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Diseases of the Nucleoskeleton

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ABSTRACT

The nucleus is separated from the cytosol by the nuclear envelope, which is a double lipid bilayer composed of the outer nuclear membrane and the inner nuclear membrane. The intermediate filament proteins lamin A, lamin B, and lamin C form a network underlying the inner nuclear membrane. This proteinaceous network provides the nucleus with its strength, rigidity, and elasticity. Positioned within the inner nuclear membrane are more than 150 inner nuclear membrane proteins, many of which interact directly with lamins and require lamins for their inner nuclear membrane localization. Inner nuclear membrane proteins and the nuclear lamins define the nuclear lamina. These inner nuclear membrane proteins have tissue‐specific expression and diverse functions including regulating cytoskeletal organization, nuclear architecture, cell cycle dynamics, and genomic organization. Loss or mutations in lamins and inner nuclear membrane proteins cause a wide spectrum of diseases. Here, I will review the functions of the well‐studied nuclear lamina proteins and the diseases associated with loss or mutations in these proteins. © 2016 American Physiological Society. Compr Physiol 6:1655‐1674, 2016.

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Figure 1. Figure 1. Map of emerin domain structure. Emerin regions that bind each emerin‐binding protein are shown below the emerin domain structure. Mutations in the residues shown block binding to one or more partners and define domain boundaries. Asterisks indicate positions of EDMD‐disease‐causing mutations. TM, transmembrane domain; RBD, repressor‐binding domain.
Figure 2. Figure 2. Emerin regulates gene expression using multiple mechanisms. Emerin regulates transcription regulators, including GCL and Lmo7, by sequestering them at the nuclear envelope to inhibit their activity. Additionally, emerin binding to transcription regulators also can effect their nuclear localization, including Lmo7 and β‐catenin, to inhibit activation of their target genes. Emerin also activates HDAC3 activity at the nuclear envelope to inhibit transcription of genes at the nuclear envelope.


Figure 1. Map of emerin domain structure. Emerin regions that bind each emerin‐binding protein are shown below the emerin domain structure. Mutations in the residues shown block binding to one or more partners and define domain boundaries. Asterisks indicate positions of EDMD‐disease‐causing mutations. TM, transmembrane domain; RBD, repressor‐binding domain.


Figure 2. Emerin regulates gene expression using multiple mechanisms. Emerin regulates transcription regulators, including GCL and Lmo7, by sequestering them at the nuclear envelope to inhibit their activity. Additionally, emerin binding to transcription regulators also can effect their nuclear localization, including Lmo7 and β‐catenin, to inhibit activation of their target genes. Emerin also activates HDAC3 activity at the nuclear envelope to inhibit transcription of genes at the nuclear envelope.
References
 1.Aebi U, Cohn J, Buhle L, Gerace L. The nuclear lamina is a meshwork of intermediate‐type filaments. Nature 323: 560‐564, 1986.
 2.Agarwal AK, Fryns JP, Auchus RJ, Garg A. Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. Hum Mol Genet 12: 1995‐2001, 2003.
 3.Ahmad Z, Zackai E, Medne L, Garg A. Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24. Am J Med Genet A 152A: 2703‐2710, 2010.
 4.Amanchy R, Kalume DE, Iwahori A, Zhong J, Pandey A. Phosphoproteome analysis of HeLa cells using stable isotope labeling with amino acids in cell culture (SILAC). J Proteome Res 4: 1661‐1671, 2005.
 5.Azibani F, Muchir A, Vignier N, Bonne G, Bertrand AT. Striated muscle laminopathies. Semin Cell Dev Biol 29: 107‐115, 2014.
 6.Bakay M, Wang Z, Melcon G, Schiltz L, Xuan J, Zhao P, Sartorelli V, Seo J, Pegoraro E, Angelini C, Shneiderman B, Escolar D, Chen YW, Winokur ST, Pachman LM, Fan C, Mandler R, Nevo Y, Gordon E, Zhu Y, Dong Y, Wang Y, Hoffman EP. Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb‐MyoD pathways in muscle regeneration. Brain 129: 996‐1013, 2006.
 7.Barton LJ, Soshnev AA, Geyer PK. Networking in the nucleus: A spotlight on LEM‐domain proteins. Curr Opin Cell Biol 34: 1‐8, 2015.
 8.Benavente R, Krohne G, Franke WW. Cell type‐specific expression of nuclear lamina proteins during development of Xenopus laevis. Cell 41: 177‐190, 1985.
 9.Bengtsson L. What MAN1 does to the Smads. TGFbeta/BMP signaling and the nuclear envelope. FEBS J 274: 1374‐1382, 2007.
 10.Bengtsson L, Wilson KL. Multiple and surprising new functions for emerin, a nuclear membrane protein. Curr Opin Cell Biol 16: 73‐79, 2004.
 11.Berk JM, Maitra S, Dawdy AW, Shabanowitz J, Hunt DF, Wilson KL. O‐GlcNAc regulates emerin binding to BAF in a chromatin‐ and lamin B‐enriched ‘niche’. J Biol Chem 288: 30192‐30209, 2013.
 12.Berk JM, Tifft KE, Wilson KL. The nuclear envelope LEM‐domain protein emerin. Nucleus 4: 298‐314, 2013.
 13.Biamonti G, Giacca M, Perini G, Contreas G, Zentilin L, Weighardt F, Guerra M, Della VG, Saccone S, Riva S, Falaschi, A. The gene for a novel human lamin maps at a highly transcribed locus of chromosome 19 which replicates at the onset of S‐phase. Mol Cell Biol 12: 3499‐3506, 1992.
 14.Bione S, Maestrini E, Rivella S, Mancini M, Regis S, Romeo G, Toniolo D. Identification of a novel X‐linked gene responsible for Emery‐Dreifuss muscular dystrophy. Nat Genet 8: 323‐327, 1994.
 15.Bione S, Small K, Aksmanovic VM, D'Urso M, Ciccodicola A, Merlini L, Morandi L, Kress W, Yates JR, Warren ST. Identification of new mutations in the Emery‐Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. Hum Mol Genet 4: 1859‐1863, 1995.
 16.Boersema PJ, Foong LY, Ding VM, Lemeer S, van Breukelen B, Philp R, Boekhorst J, Snel B, den Hertog J, Choo AB, Heck AJ. In‐depth qualitative and quantitative profiling of tyrosine phosphorylation using a combination of phosphopeptide immunoaffinity purification and stable isotope dimethyl labeling. Mol Cell Proteomics 9: 84‐99, 2010.
 17.Bonne G, Di Barletta MR, Varnous S, Becane HM, Hammouda EH, Merlini L, Muntoni F, Greenberg CR, Gary F, Urtizberea JA, Duboc D, Fardeau M, Toniolo D, Schwartz K. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery‐Dreifuss muscular dystrophy. Nat Genet 21: 285‐288, 1999.
 18.Bonne G, Mercuri E, Muchir A, Urtizberea A, Becane HM, Recan D, Merlini L, Wehnert M, Boor R, Reuner U, Vorgerd M, Wicklein EM, Eymard B, Duboc D, Penisson‐Besnier I, Cuisset JM, Ferrer X, Desguerre I, Lacombe D, Bushby K, Pollitt C, Toniolo D, Fardeau M, Schwartz K, Muntoni F. Clinical and molecular genetic spectrum of autosomal dominant Emery‐Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Ann Neurol 48: 170‐180, 2000.
 19.Bonne G, Mercuri E, Muchir A, Urtizberea A, Becane HM, Recan D, Merlini L, Wehnert M, Boor R, Reuner U, Vorgerd M, Wicklein EM, Eymard B, Duboc D, Penisson‐Besnier I, Cuisset JM, Ferrer X, Desguerre I, Lacombe D, Bushby K, Pollitt C, Toniolo D, Fardeau M, Schwartz K, Muntoni F. Clinical and molecular genetic spectrum of autosomal dominant Emery‐Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Ann Neurol 48: 170‐180, 2000.
 20.Bonne G, Yaou RB, Beroud C, Boriani G, Brown S, de Visser M, Duboc D, Ellis J, Hausmanowa‐Petrusewicz I, Lattanzi G, Merlini L, Morris G, Muntoni F, Opolski G, Pinto YM, Sangiuolo F, Toniolo D, Trembath R, van Berlo JH, van der Kooi AJ, Wehnert M. 108th ENMC International Workshop, 3rd Workshop of the MYO‐CLUSTER project: EUROMEN, 7th International Emery‐Dreifuss Muscular Dystrophy (EDMD) Workshop, 13‐15 September 2002, Naarden, The Netherlands. Neuromuscul Disord 13: 508‐515, 2003.
 21.Bose R, Molina H, Patterson AS, Bitok JK, Periaswamy B, Bader JS, Pandey A, Cole PA. Phosphoproteomic analysis of Her2/neu signaling and inhibition. Proc Natl Acad Sci U S A 103: 9773‐9778, 2006.
 22.Brachner A, Foisner R. Evolvement of LEM proteins as chromatin tethers at the nuclear periphery. Biochem Soc Trans 39: 1735‐1741, 2011.
 23.Brack AS, Conboy IM, Conboy MJ, Shen J, Rando TA. A temporal switch from notch to Wnt signaling in muscle stem cells is necessary for normal adult myogenesis. Cell Stem Cell 2: 50‐59, 2008.
 24.Brill LM, Salomon AR, Ficarro SB, Mukherji M, Stettler‐Gill M, Peters EC. Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry. Anal Chem 76: 2763‐2772, 2004.
 25.Broers JL, Kuijpers HJ, Ostlund C, Worman HJ, Endert J, Ramaekers FC. Both lamin A and lamin C mutations cause lamina instability as well as loss of internal nuclear lamin organization. Exp Cell Res 304: 582‐592, 2005.
 26.Brown CA, Lanning RW, McKinney KQ, Salvino AR, Cherniske E, Crowe CA, Darras BT, Gominak S, Greenberg CR, Grosmann C, Heydemann P, Mendell JR, Pober BR, Sasaki T, Shapiro F, Simpson DA, Suchowersky O, Spence JE. Novel and recurrent mutations in lamin A/C in patients with Emery‐Dreifuss muscular dystrophy. Am J Med Genet 102: 359‐367, 2001.
 27.Bukong TN, Hall WW, Jacque JM. Lentivirus‐associated MAPK/ERK2 phosphorylates EMD and regulates infectivity. J Gen Virol 91: 2381‐2392, 2010.
 28.Burke B, Stewart CL. The nuclear lamins: Flexibility in function. Nat Rev Mol Cell Biol 14: 13‐24, 2013.
 29.Cadot B, Gache V, Gomes ER. Moving and positioning the nucleus in skeletal muscle ‐ one step at a time. Nucleus 6: 373‐381, 2015.
 30.Cai M HY, Ghirlando R, Wilson KL, Craigie R, Clore GM. Solution structure of the constant region of nuclear envelope protein LAP2 reveals two LEM‐domain structures: One binds BAF and the other binds DNA. EMBO J 20: 4399‐4407, 2001.
 31.Cantin GT, Yi W, Lu B, Park SK, Xu T, Lee JD, Yates JR, 3rd. Combining protein‐based IMAC, peptide‐based IMAC, and MudPIT for efficient phosphoproteomic analysis. J Proteome Res 7: 1346‐1351, 2008.
 32.Cao H, Hegele RA. Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan‐type familial partial lipodystrophy. Hum Mol Genet 9: 109‐112, 2000.
 33.Cartwright S, Karakesisoglou I. Nesprins in health and disease. Semin Cell Dev Biol 29: 169‐179, 2014.
 34.Chambliss AB, Khatau SB, Erdenberger N, Robinson DK, Hodzic D, Longmore GD, Wirtz D. The LINC‐anchored actin cap connects the extracellular milieu to the nucleus for ultrafast mechanotransduction. Sci Rep 3: 1087, 2013.
 35.Chancellor TJ, Lee J, Thodeti CK, Lele T. Actomyosin tension exerted on the nucleus through nesprin‐1 connections influences endothelial cell adhesion, migration, and cyclic strain‐induced reorientation. Biophys J 99: 115‐123, 2010.
 36.Chang W, Folker ES, Worman HJ, Gundersen GG. Emerin organizes actin flow for nuclear movement and centrosome orientation in migrating fibroblasts. Mol Biol Cell 24: 3869‐3880, 2013.
 37.Chen L, Lee L, Kudlow BA, Dos Santos HG, Sletvold O, Shafeghati Y, Botha EG, Garg A, Hanson NB, Martin GM, Mian IS, Kennedy BK, Oshima J. LMNA mutations in atypical Werner's syndrome. Lancet 362: 440‐445, 2003.
 38.Chen M, Kuo HH, Huang YC, Ke YY, Chang SP, Chen CP, Lee DJ, Lee ML, Lee MH, Chen TH, Chen CH, Lin HM, Liu CS, Ma GC. A case of restrictive dermopathy with complete chorioamniotic membrane separation caused by a novel homozygous nonsense mutation in the ZMPSTE24 gene. Am J Med Genet A 149A: 1550‐1554, 2009.
 39.Conboy IM, Rando TA. The regulation of Notch signaling controls satellite cell activation and cell fate determination in postnatal myogenesis. Dev Cell 3: 397‐409, 2002.
 40.Crisp M, Liu Q, Roux K, Rattner JB, Shanahan C, Burke B, Stahl PD, Hodzic D. Coupling of the nucleus and cytoplasm: Role of the LINC complex. J Cell Biol 172: 41‐53, 2006.
 41.Dabauvalle MC, Muller E, Ewald A, Kress W, Krohne G, Muller CR. Distribution of emerin during the cell cycle. Eur J of Cell Biol 78: 749‐756, 1999.
 42.Dahl KN, Kalinowski A. Nucleoskeleton mechanics at a glance. J Cell Sci 124: 675‐678, 2011.
 43.Dahl KN, Scaffidi P, Islam MF, Yodh AG, Wilson KL, Misteli T. Distinct structural and mechanical properties of the nuclear lamina in Hutchinson‐Gilford progeria syndrome. Proc Natl Acad Sci U S A 103: 10271‐10276, 2006.
 44.Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M. Kinase‐selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. Mol Cell 31: 438‐448, 2008.
 45.de la Luna S, Allen KE, Mason SL, La Thangue NB. Integration of a growth‐suppressing BTB/POZ domain protein with the DP component of the E2F transcription factor. EMBO J 18: 212‐228, 1999.
 46.de Lanerolle P. Nuclear actin and myosins at a glance. J Cell Sci 125: 4945‐4949, 2012.
 47.De Sandre‐Giovannoli A, Bernard R, Cau P, Navarro C, Amiel J, Boccaccio I, Lyonnet S, Stewart CL, Munnich A, Le Merrer M, Levy N. Lamin a truncation in Hutchinson‐Gilford progeria. Science 300: 2055, 2003.
 48.De Sandre‐Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N, Szepetowski P, Hammadouche T, Vandenberghe A, Stewart CL, Grid D, Levy N. Homozygous defects in LMNA, encoding lamin A/C nuclear‐envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot‐Marie‐Tooth disorder type 2) and mouse. Am J Hum Genet 70: 726‐736, 2002.
 49.Dechat T, Adam SA, Taimen P, Shimi T, Goldman RD. Nuclear lamins. Cold Spring Harb Perspect Biol 2: a000547, 2010.
 50.Dedeic Z, Cetera M, Cohen TV, Holaska JM. Emerin inhibits Lmo7 binding to the Pax3 and MyoD promoters and expression of myoblast proliferation genes. J Cell Sci 124: 1691‐1702, 2011.
 51.Demmerle J, Koch AJ, Holaska JM. Emerin and histone deacetylase 3 (HDAC3) cooperatively regulate expression and nuclear positions of MyoD, Myf5, and Pax7 genes during myogenesis. Chromosome Res 21: 765‐779, 2013.
 52.Demmerle J, Koch AJ, Holaska JM. The nuclear envelope protein Emerin binds directly to histone deacetylase 3 (HDAC3) and activates HDAC3 activity. J Biol Chem 287: 22080‐22088, 2012.
 53.Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP. A quantitative atlas of mitotic phosphorylation. Proc Natl Acad Sci U S A 105: 10762‐10767, 2008.
 54.Depreux FF, Puckelwartz MJ, Augustynowicz A, Wolfgeher D, Labno CM, Pierre‐Louis D, Cicka D, Kron SJ, Holaska J, McNally EM. Disruption of the lamin A and matrin‐3 interaction by myopathic LMNA mutations. Hum Mol Genet 24: 4284‐4295, 2015.
 55.Dittmer TA, Misteli T. The lamin protein family. Genome Biol 12: 222, 2011.
 56.Dittrich CM, Kratz K, Sendoel A, Gruenbaum Y, Jiricny J, Hengartner MO. LEM‐3 ‐ A LEM domain containing nuclease involved in the DNA damage response in C. elegans. PLoS One 7: e24555, 2012.
 57.Doh YJ, Kim HK, Jung ED, Choi SH, Kim JG, Kim BW, Lee IK. Novel LMNA gene mutation in a patient with Atypical Werner's Syndrome. Korean J Intern Med 24: 68‐72, 2009.
 58.Doring V, Stick R. Gene structure of nuclear lamin LIII of Xenopus laevis; a model for the evolution of IF proteins from a lamin‐like ancestor. Embo J 9: 4073‐4081, 1990.
 59.Dreifuss FH, Hogan GR. Survival in X‐chromosomal muscular dystrophy. Neurology 11: 734‐737, 1961.
 60.Dunnigan MG, Cochrane MA, Kelly A, Scott JW. Familial lipoatrophic diabetes with dominant transmission. A new syndrome. Q J Med 43: 33‐48, 1974.
 61.Dupre N, Gros‐Louis F, Bouchard JP, Noreau A, Rouleau GA. SYNE1‐related autosomal recessive cerebellar ataxia. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews(R). University of Washington, Seattle: Seattle (WA), 1993.
 62.Dupre N, Gros‐Louis F, Chrestian N, Verreault S, Brunet D, de Verteuil D, Brais B, Bouchard JP, Rouleau GA. Clinical and genetic study of autosomal recessive cerebellar ataxia type 1. Ann Neurol 62: 93‐98, 2007.
 63.Dwyer N, Blobel G. A modified procedure for the isolation of a pore complex‐lamina fraction from rat liver nuclei. J Cell Biol 70: 581‐591, 1976.
 64.Edwall D, Schalling M, Jennische E, Norstedt G. Induction of insulin‐like growth factor I messenger ribonucleic acid during regeneration of rat skeletal muscle. Endocrinology 124: 820‐825, 1989.
 65.Emery AE. Emery‐Dreifuss muscular dystrophy‐a 40 year retrospective. Neuromuscul Disord 10: 228‐232, 2000.
 66.Emery AE. Emery‐Dreifuss syndrome. J Med Genet 26: 637‐641, 1989.
 67.Emery AEH, Dreifuss FE. Unusual type of benign X‐linked muscular dystrophy. J Neurol Neurosurg Psychiat 29: 338‐342, 1955.
 68.Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS. Recurrent de novo point mutations in lamin A cause Hutchinson‐Gilford progeria syndrome. Nature 423: 293‐298, 2003.
 69.Fatkin D, MacRae C, Sasaki T, Wolff MR, Porcu M, Frenneaux M, Atherton J, Vidaillet HJ, Jr., Spudich S, De Girolami U, Seidman JG, Seidman CE, Muntoni F, Muehle G, Johnson W, McDonough B. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction‐system disease. N Engl J Med 341: 1715‐1724, 1999.
 70.Favreau C, Delbarre E, Courvalin JC, Buendia B. Differentiation of C2C12 myoblasts expressing lamin A mutated at a site responsible for Emery‐Dreifuss muscular dystrophy is improved by inhibition of the MEK‐ERK pathway and stimulation of the PI3‐kinase pathway. Exp Cell Res 314: 1392‐1405, 2008.
 71.Fidzianska A, Glinka Z. Nuclear architecture remodelling in envelopathies. Folia Neuropathol 45: 47‐55, 2007.
 72.Fidzianska A, Hausmanowa‐Petrusewicz I. Architectural abnormalities in muscle nuclei. Ultrastructural differences between X‐linked and autosomal dominant forms of EDMD. J Neurol Sci 210: 47‐51, 2003.
 73.Fidzianska A, Toniolo D, Hausmanowa‐Petrusewicz I. Ultrastructural abnormality of sarcolemmal nuclei in Emery‐Dreifuss muscular dystrophy (EDMD). J Neurol Sci 159: 88‐93, 1998.
 74.Finlan LE, Sproul D, Thomson I, Boyle S, Kerr E, Perry P, Ylstra B, Chubb JR, Bickmore WA. Recruitment to the nuclear periphery can alter expression of genes in human cells. PLoS Genet 4: e1000039, 2008.
 75.Fisher DZ, Chaudhary N, Blobel G. cDNA sequencing of nuclear lamins A and C reveals primary and secondary structural homology to intermediate filament proteins. Proc Natl Acad Sci U S A 83: 6450‐6454, 1986.
 76.Folker ES, Ostlund C, Luxton GW, Worman HJ, Gundersen GG. Lamin A variants that cause striated muscle disease are defective in anchoring transmembrane actin‐associated nuclear lines for nuclear movement. Proc Natl Acad Sci U S A 108: 131‐136, 2011.
 77.Frock RL, Kudlow BA, Evans AM, Jameson SA, Hauschka SD, Kennedy BK. Lamin A/C and emerin are critical for skeletal muscle satellite cell differentiation. Genes Dev 20: 486‐500, 2006.
 78.Furukawa K, Hotta Y. cDNA cloning of a germ cell specific lamin B3 from mouse spermatocytes and analysis of its function by ectopic expression in somatic cells. EMBO J 12: 97‐106, 1993.
 79.Furukawa K, Sugiyama S, Osouda S, Goto H, Inagaki M, Horigome T, Omata S, McConnell M, Fisher PA, Nishida Y. Barrier‐to‐autointegration factor plays crucial roles in cell cycle progression and nuclear organization in Drosophila. J Cell Sci 116: 3811‐3823, 2003.
 80.Garg A. Acquired and inherited lipodystrophies. N Engl J Med 350: 1220‐1234, 2004.
 81.Ge F, Xiao CL, Yin XF, Lu CH, Zeng HL, He QY. Phosphoproteomic analysis of primary human multiple myeloma cells. J Proteomics 73: 1381‐1390, 2010.
 82.Gerace L, Blobel G. The nuclear envelope lamina is reversibly depolymerized during mitosis. Cell 19: 277‐287, 1980.
 83.Gjerstorff MF, Ditzel HJ. An overview of the GAGE cancer/testis antigen family with the inclusion of newly identified members. Tissue Antigens 71: 187‐192, 2008.
 84.Gjerstorff MF, Harkness L, Kassem M, Frandsen U, Nielsen O, Lutterodt M, Mollgard K, Ditzel HJ. Distinct GAGE and MAGE‐A expression during early human development indicate specific roles in lineage differentiation. Hum Reprod 23: 2194‐2201, 2008.
 85.Gjerstorff MF, Rosner HI, Pedersen CB, Greve KB, Schmidt S, Wilson KL, Mollenhauer J, Besir H, Poulsen FM, Mollegaard NE, Ditzel HJ. GAGE cancer‐germline antigens are recruited to the nuclear envelope by germ cell‐less (GCL). PLoS One 7: e45819, 2012.
 86.Gonzalez‐Alegre P, Paulson HL. Aberrant cellular behavior of mutant torsinA implicates nuclear envelope dysfunction in DYT1 dystonia. J Neurosci 24: 2593‐2601, 2004.
 87.Gonzalez‐Sandoval A, Towbin BD, Kalck V, Cabianca DS, Gaidatzis D, Hauer MH, Geng L, Wang L, Yang T, Wang X, Zhao K, Gasser SM. Perinuclear anchoring of H3K9‐methylated chromatin stabilizes induced cell fate in C. elegans embryos. Cell 163: 1333‐1347, 2015.
 88.Goodchild RE, Dauer WT. Mislocalization to the nuclear envelope: An effect of the dystonia‐causing torsinA mutation. Proc Natl Acad Sci U S A 101: 847‐852, 2004.
 89.Goodchild RE, Dauer WT. The AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein. J Cell Biol 168: 855‐862, 2005.
 90.Grady RM, Starr DA, Ackerman GL, Sanes JR, Han M. Syne proteins anchor muscle nuclei at the neuromuscular junction. Proc Natl Acad Sci U S A 102: 4359‐4364, 2005.
 91.Greenberg CR, Rimoin DL, Gruber HE, DeSa DJ, Reed M, Lachman RS. A new autosomal recessive lethal chondrodystrophy with congenital hydrops. Am J Med Genet 29: 623‐632, 1988.
 92.Gros‐Louis F, Dupre N, Dion P, Fox MA, Laurent S, Verreault S, Sanes JR, Bouchard JP, Rouleau GA. Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. Nat Genet 39: 80‐85, 2007.
 93.Grundmann K, Laubis‐Herrmann U, Bauer I, Dressler D, Vollmer‐Haase J, Bauer P, Stuhrmann M, Schulte T, Schols L, Topka H, Riess O. Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia. Arch Neurol 60: 1266‐1270, 2003.
 94.Guelen L, Pagie L, Brasset E, Meuleman W, Faza MB, Talhout W, Eussen BH, de Klein A, Wessels L, de Laat W, van Steensel B. Domain organization of human chromosomes revealed by mapping of nuclear lamina interactions. Nature 453: 948‐951, 2008.
 95.Gueneau L, Bertrand AT, Jais JP, Salih MA, Stojkovic T, Wehnert M, Hoeltzenbein M, Spuler S, Saitoh S, Verschueren A, Tranchant C, Beuvin M, Lacene E, Romero NB, Heath S, Zelenika D, Voit T, Eymard B, Ben Yaou R, Bonne G. Mutations of the FHL1 gene cause Emery‐Dreifuss muscular dystrophy. Am J Hum Genet 85: 338‐353, 2009.
 96.Gundersen GG, Worman HJ. Nuclear positioning. Cell 152: 1376‐1389, 2013.
 97.Hakelien AM, Delbarre E, Gaustad KG, Buendia B, Collas P. Expression of the myodystrophic R453W mutation of lamin A in C2C12 myoblasts causes promoter‐specific and global epigenetic defects. Exp Cell Res 314: 1869‐1880, 2008.
 98.Hamel BC, Happle R, Steylen PM, Kollee LA, Stekhoven JH, Nijhuis JG, Rauskolb R, Anton‐Lamprecht I. False‐negative prenatal diagnosis of restrictive dermopathy. Am J Med Genet 44: 824‐826, 1992.
 99.Han G, Ye M, Liu H, Song C, Sun D, Wu Y, Jiang X, Chen R, Wang C, Wang L, Zou H. Phosphoproteome analysis of human liver tissue by long‐gradient nanoflow LC coupled with multiple stage MS analysis. Electrophoresis 31: 1080‐1089, 2010.
 100.Happle R, Stekhoven JH, Hamel BC, Kollee LA, Nijhuis JG, Anton‐Lamprecht I, Steijlen PM. Restrictive dermopathy in two brothers. Arch Dermatol 128: 232‐235, 1992.
 101.Haque F, Lloyd DJ, Smallwood DT, Dent CL, Shanahan CM, Fry AM, Trembath RC, Shackleton S. SUN1 interacts with nuclear lamin A and cytoplasmic nesprins to provide a physical connection between the nuclear lamina and the cytoskeleton. Mol Cell Biol 26: 3738‐3751, 2006.
 102.Haraguchi T, Holaska JM, Yamane M, Wilson KL, Hiraoka Y. Emerin binding to Btf, a death‐promoting transcriptional repressor, is disrupted by a missense mutation that causes Emery‐Dreifuss muscular dystrophy. Eur J Biochem 271: 1035‐1045, 2004.
 103.Haraguchi T, Kojidani T, Koujin T, Shimi T, Osakada H, Mori C, Yamamoto A, Hiraoka Y. Live cell imaging and electron microscopy reveal dynamic processes of BAF‐directed nuclear envelope assembly. J Cell Sci 121: 2540‐2554, 2008.
 104.Haraguchi T, Koujin T, Osakada H, Kojidani T, Mori C, Masuda H, Hiraoka Y. Nuclear localization of barrier‐to‐autointegration factor is correlated with progression of S phase in human cells. J Cell Sci 120: 1967‐1977, 2007.
 105.Haraguchi T, Koujin T, Segura‐Totten M, Lee KK, Matsuoka Y, Yoneda Y, Wilson KL, Hiraoka Y. BAF is required for emerin assembly into the reforming nuclear envelope. J Cell Sci 114: 4575‐4585, 2001.
 106.Harr JC, Luperchio TR, Wong X, Cohen E, Wheelan SJ, Reddy KL. Directed targeting of chromatin to the nuclear lamina is mediated by chromatin state and A‐type lamins. J Cell Biol 208: 33‐52, 2015.
 107.Hart GW, Slawson C, Ramirez‐Correa G, Lagerlof O. Cross talk between O‐GlcNAcylation and phosphorylation: Roles in signaling, transcription, and chronic disease. Annu Rev Biochem 80: 825‐858, 2011.
 108.Helbling‐Leclerc A, Bonne G, Schwartz K. Emery‐Dreifuss muscular dystrophy. Eur J Hum Genet 10: 157‐161, 2002.
 109.Hellemans J, Preobrazhenska O, Willaert A, Debeer P, Verdonk PC, Costa T, Janssens K, Menten B, Van Roy N, Vermeulen SJ, Savarirayan R, Van Hul W, Vanhoenacker F, Huylebroeck D, De Paepe A, Naeyaert JM, Vandesompele J, Speleman F, Verschueren K, Coucke PJ, Mortier GR. Loss‐of‐function mutations in LEMD3 result in osteopoikilosis, Buschke‐Ollendorff syndrome and melorheostosis. Nat Genet 36: 1213‐1218, 2004.
 110.Hennekam RC. Hutchinson‐Gilford progeria syndrome: Review of the phenotype. Am J Med Genet A 140: 2603‐2624, 2006.
 111.Heydemann A, Ceco E, Lim JE, Hadhazy M, Ryder P, Moran JL, Beier DR, Palmer AA, McNally EM. Latent TGF‐beta‐binding protein 4 modifies muscular dystrophy in mice. J Clin Invest 119: 3703‐3712, 2009.
 112.Heydemann A, Swaggart KA, Kim GH, Holley‐Cuthrell J, Hadhazy M, McNally EM. The superhealing MRL background improves muscular dystrophy. Skelet Muscle 2: 26, 2012.
 113.Hirano Y, Segawa M, Ouchi FS, Yamakawa Y, Furukawa K, Takeyasu K, Horigome T. Dissociation of emerin from barrier‐to‐autointegration factor is regulated through mitotic phosphorylation of emerin in a Xenopus egg cell‐free system. J Biol Chem 280: 39925‐39933, 2005.
 114.Hoffmann K, Dreger CK, Olins AL, Olins DE, Shultz LD, Lucke B, Karl H, Kaps R, Muller D, Vaya A, Aznar J, Ware RE, Sotelo Cruz N, Lindner TH, Herrmann H, Reis A, Sperling K. Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger‐Huet anomaly). Nat Genet 31: 410‐414, 2002.
 115.Hoffmann R, Lohner M, Bohm N, Leititis J, Helwig H. Restrictive dermopathy: A lethal congenital skin disorder. Eur J Pediatr 152: 95‐98, 1993.
 116.Holaska J, Lee K, Kowalski A, Wilson K. Transcriptional repressor germ cell‐less (GCL) and barrier‐to‐autointegration factor (BAF) compete for binding to emerin in vitro. J Biol Chem 278: 6969‐6975, 2003.
 117.Holaska JM, Kowalski AM, Wilson KL. Emerin caps the pointed end of actin filaments: Evidence for an actin cortical network at the nuclear inner membrane. PLoS Biol 2: 1354‐1362, 2004.
 118.Holaska JM, Rais‐Bahrami S, Wilson KL. Lmo7 is an emerin‐binding protein that regulates the transcription of emerin and many other muscle‐relevant genes. Hum Mol Genet 15: 3459‐3472, 2006.
 119.Holaska JM, Wilson KL. An emerin “proteome”: Purification of distinct emerin‐containing complexes from HeLa cells suggests molecular basis for diverse roles including gene regulation, mRNA splicing, signaling, mechanosensing, and nuclear architecture. Biochemistry 46: 8897‐8908, 2007.
 120.Holaska JM, Wilson KL. Multiple roles for emerin: Implications for Emery‐Dreifuss muscular dystrophy. Anat Rec A Discov Mol Cell Evol Biol 288: 676‐680, 2006.
 121.Huber MD, Guan T, Gerace L. Overlapping functions of nuclear envelope proteins NET25 (Lem2) and emerin in regulation of extracellular signal‐regulated kinase signaling in myoblast differentiation. Mol Cell Biol 29: 5718‐5728, 2009.
 122.Hutchison CJ. B‐type lamins in health and disease. Semin Cell Dev Biol 29: 158‐163, 2014.
 123.Ikegami K, Egelhofer T, Strome S, Lieb JD. Caenorhabditis elegans chromosome arms are anchored to the nuclear membrane via discontinuous association with LEM‐2. Genome Biol 11: R120, 2010.
 124.Izumi Y, Miyamoto R, Morino H, Yoshizawa A, Nishinaka K, Udaka F, Kameyama M, Maruyama H, Kawakami H. Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease. Neurology 80: 600‐601, 2013.
 125.Jahn D, Schramm S, Benavente R, Alsheimer M. Dynamic properties of meiosis‐specific lamin C2 and its impact on nuclear envelope integrity. Nucleus 1: 273‐283, 2010.
 126.Jennische E, Hansson HA. Regenerating skeletal muscle cells express insulin‐like growth factor I. Acta Physiol Scand 130: 327‐332, 1987.
 127.Jennische E, Skottner A, Hansson HA. Satellite cells express the trophic factor IGF‐I in regenerating skeletal muscle. Acta Physiol Scand 129: 9‐15, 1987.
 128.Jimenez‐Escrig A, Gobernado I, Garcia‐Villanueva M, Sanchez‐Herranz A. Autosomal recessive Emery‐Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing. Muscle Nerve 45: 605‐610, 2012.
 129.Karabinos A, Schunemann J, Meyer M, Aebi U, Weber K. The single nuclear lamin of Caenorhabditis elegans forms in vitro stable intermediate filaments and paracrystals with a reduced axial periodicity. J Mol Biol 325: 241‐247, 2003.
 130.Kasof GM, Goyal L, White E. Btf, a novel death‐promoting transcriptional repressor that interacts with Bcl‐2 related proteins. Mol Cell Biol 19: 4390‐4404, 1999.
 131.Kim CE, Perez A, Perkins G, Ellisman MH, Dauer WT. A molecular mechanism underlying the neural‐specific defect in torsinA mutant mice. Proc Natl Acad Sci U S A 107: 9861‐9866, 2010.
 132.Kimura A. Molecular genetics and pathogenesis of cardiomyopathy. J Hum Genet 61: 41‐50, 2016.
 133.Kind J, Pagie L, Ortabozkoyun H, Boyle S, de Vries SS, Janssen H, Amendola M, Nolen LD, Bickmore WA, van Steensel B. Single‐cell dynamics of genome‐nuclear lamina interactions. Cell 153: 178‐192, 2013.
 134.King MC, Drivas TG, Blobel G. A network of nuclear envelope membrane proteins linking centromeres to microtubules. Cell 134: 427‐438, 2008.
 135.Kiseleva E, Drummond SP, Goldberg MW, Rutherford SA, Allen TD, Wilson KL. Actin‐ and protein‐4.1‐containing filaments link nuclear pore complexes to subnuclear organelles in Xenopus oocyte nuclei. J Cell Sci 117: 2481‐2490, 2004.
 136.Kobberling J, Dunnigan MG. Familial partial lipodystrophy: Two types of an X linked dominant syndrome, lethal in the hemizygous state. J Med Genet 23: 120‐127, 1986.
 137.Koch AJ, Holaska JM. Emerin in health and disease. Semin Cell Dev Biol 29: 95‐106, 2014.
 138.Koch AJ, Holaska JM. Loss of Emerin alters myogenic signaling and miRNA expression in mouse myogenic progenitors. PLoS One 7: e37262, 2012.
 139.Konstantinidou A, Karadimas C, Waterham HR, Superti‐Furga A, Kaminopetros P, Grigoriadou M, Kokotas H, Agrogiannis G, Giannoulia‐Karantana A, Patsouris E, Petersen MB. Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia. Prenat Diagn 28: 309‐312, 2008.
 140.Korfali N, Srsen V, Waterfall M, Batrakou DG, Pekovic V, Hutchison CJ, Schirmer EC. A flow cytometry‐based screen of nuclear envelope transmembrane proteins identifies NET4/Tmem53 as involved in stress‐dependent cell cycle withdrawal. PLoS One 6: e18762, 2011.
 141.Korfali N, Wilkie GS, Swanson SK, Srsen V, Batrakou DG, Fairley EA, Malik P, Zuleger N, Goncharevich A, de Las Heras J, Kelly DA, Kerr AR, Florens L, Schirmer EC. The leukocyte nuclear envelope proteome varies with cell activation and contains novel transmembrane proteins that affect genome architecture. Mol Cell Proteomics 9: 2571‐2585, 2010.
 142.Krauss SW, Chen C, Penman S, Heald R. Nuclear actin and protein 4.1: Essential interactions during nuclear assembly in vitro. Proc Natl Acad Sci U S A 100: 10752‐10757, 2003.
 143.Krauss SW, Spence JR, Bahmanyar S, Barth AI, Go MM, Czerwinski D, Meyer AJ. Downregulation of protein 4.1R, a mature centriole protein, disrupts centrosomes, alters cell cycle progression, and perturbs mitotic spindles and anaphase. Mol Cell Biol 28: 2283‐2294, 2008.
 144.Kumaran RI, Spector DL. A genetic locus targeted to the nuclear periphery in living cells maintains its transcriptional competence. J Cell Biol 180: 51‐65, 2008.
 145.Kurihara LJ, Semenova E, Miller W, Ingram RS, Guan XJ, Tilghman SM. Candidate genes required for embryonic development: A comparative analysis of distal mouse chromosome 14 and human chromosome 13q22. Genomics 79: 154‐161, 2002.
 146.Lammerding J, Fong LG, Ji JY, Reue K, Stewart CL, Young SG, Lee RT. Lamins A and C but not lamin B1 regulate nuclear mechanics. J Biol Chem 281: 25768‐25780, 2006.
 147.Lammerding J, Hsiao J, Schulze PC, Kozlov S, Stewart CL, Lee RT. Abnormal nuclear shape and impaired mechanotransduction in emerin‐deficient cells. J Cell Biol 170: 781‐791, 2005.
 148.Lammerding J, Lee RT. The nuclear membrane and mechanotransduction: Impaired nuclear mechanics and mechanotransduction in lamin A/C deficient cells. Novartis Found Symp 264: 264‐273; discussion 273‐268, 2005.
 149.Lammerding J, Schulze PC, Takahashi T, Kozlov S, Sullivan T, Kamm RD, Stewart CL, Lee RT. Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction. J Clin Invest 113: 370‐378, 2004.
 150.Lanktree M, Cao H, Rabkin SW, Hanna A, Hegele RA. Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660). Clin Genet 71: 183‐186, 2007.
 151.Lao DH, Esparza MC, Bremner SN, Banerjee I, Zhang J, Veevers J, Bradford WH, Gu Y, Dalton ND, Knowlton KU, Peterson KL, Lieber RL, Chen J. Lmo7 is dispensable for skeletal muscle and cardiac function. Am J Physiol Cell Physiol: ajpcell 00177 02015, 2015.
 152.Lattanzi G, Cenni V, Marmiroli S, Capanni C, Mattioli E, Merlini L, Squarzoni S, Maraldi NM. Association of emerin with nuclear and cytoplasmic actin is regulated in differentiating myoblasts. Biochem Biophys Res Commun 303: 764‐770, 2003.
 153.Leach N, Bjerke SL, Christensen DK, Bouchard JM, Mou F, Park R, Baines J, Haraguchi T, Roller RJ. Emerin is hyperphosphorylated and redistributed in herpes simplex virus type 1‐infected cells in a manner dependent on both UL34 and US3. J Virol 81: 10792‐10803, 2007.
 154.Lee KK, Haraguchi T, Lee RS, Koujin T, Hiraoka Y, Wilson KL. Distinct functional domains in emerin bind lamin A and DNA‐bridging protein BAF. J Cell Sci 114: 4567‐4573, 2001.
 155.Lee YY, Yu YB, Gunawardena HP, Xie L, Chen X. BCLAF1 is a radiation‐induced H2AX‐interacting partner involved in gammaH2AX‐mediated regulation of apoptosis and DNA repair. Cell Death Dis 3: e359, 2012.
 156.Lehner CF, Stick R, Eppenberger HM, Nigg EA. Differential expression of nuclear lamin proteins during chicken development. J Cell Biol 105: 577‐587, 1987.
 157.Lei K, Zhang X, Ding X, Guo X, Chen M, Zhu B, Xu T, Zhuang Y, Xu R, Han M. SUN1 and SUN2 play critical but partially redundant roles in anchoring nuclei in skeletal muscle cells in mice. Proc Natl Acad Sci U S A 106: 10207‐10212, 2009.
 158.Liang WC, Mitsuhashi H, Keduka E, Nonaka I, Noguchi S, Nishino I, Hayashi YK. TMEM43 mutations in Emery‐Dreifuss muscular dystrophy‐related myopathy. Ann Neurol 69: 1005‐1013, 2011.
 159.Lin F, Blake DL, Callebaut I, Skerjanc IS, Holmer L, McBurney MW, Paulin‐Levasseur M, Worman HJ. MAN1, an inner nuclear membrane protein that shares the LEM domain with lamina‐associated polypeptide 2 and emerin. J Biol Chem 275: 4840‐4847, 2000.
 160.Lin F, Worman HJ. Structural organization of the human gene (LMNB1) encoding nuclear lamin B1. Genomics 27: 230‐236, 1995.
 161.Lin F, Worman HJ. Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C. J Biol Chem 268: 16321‐16326, 1993.
 162.Liu H, Lu ZG, Miki Y, Yoshida K. Protein kinase C delta induces transcription of the TP53 tumor suppressor gene by controlling death‐promoting factor Btf in the apoptotic response to DNA damage. Mol Cell Biol 27: 8480‐8491, 2007.
 163.Lombardi F, Fasciglione GF, D'Apice MR, Vielle A, D'Adamo M, Sbraccia P, Marini S, Borgiani P, Coletta M, Novelli G. Increased release and activity of matrix metalloproteinase‐9 in patients with mandibuloacral dysplasia type A, a rare premature ageing syndrome. Clin Genet 74: 374‐383, 2008.
 164.Lombardi ML, Lammerding J. Keeping the LINC: The importance of nucleocytoskeletal coupling in intracellular force transmission and cellular function. Biochem Soc Trans 39: 1729‐1734, 2011.
 165.Lu JT, Muchir A, Nagy PL, Worman HJ. LMNA cardiomyopathy: Cell biology and genetics meet clinical medicine. Dis Model Mech 4: 562‐568, 2011.
 166.Luke Y, Zaim H, Karakesisoglou I, Jaeger VM, Sellin L, Lu W, Schneider M, Neumann S, Beijer A, Munck M, Padmakumar VC, Gloy J, Walz G, Noegel AA. Nesprin‐2 Giant (NUANCE) maintains nuclear envelope architecture and composition in skin. J Cell Sci 121: 1887‐1898, 2008.
 167.Luxton GW, Gomes ER, Folker ES, Vintinner E, Gundersen GG. Linear arrays of nuclear envelope proteins harness retrograde actin flow for nuclear movement. Science 329: 956‐959, 2010.
 168.Machiels BM, Zorenc AH, Endert JM, Kuijpers HJ, van Eys GJ, Ramaekers FC, Broers JL. An alternative splicing product of the lamin A/C gene lacks exon 10. J Biol Chem 271: 9249‐9253, 1996.
 169.Malik R, Lenobel R, Santamaria A, Ries A, Nigg EA, Korner R. Quantitative analysis of the human spindle phosphoproteome at distinct mitotic stages. J Proteome Res 8: 4553‐4563, 2009.
 170.Malone CJ, Misner L, Le Bot N, Tsai MC, Campbell JM, Ahringer J, White JG. The C. elegans hook protein, ZYG‐12, mediates the essential attachment between the centrosome and nucleus. Cell 115: 825‐836, 2003.
 171.Manilal S, Nguyen TM, Sewry CA, Morris GE. The Emery‐Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein. Hum Mol Genet 5: 801‐808, 1996.
 172.Manju K, Muralikrishna B, Parnaik VK. Expression of disease‐causing lamin A mutants impairs the formation of DNA repair foci. J Cell Sci 119: 2704‐2714, 2006.
 173.Mans BJ, Anantharaman V, Aravind L, Koonin EV. Comparative genomics, evolution and origins of the nuclear envelope and nuclear pore complex. Cell Cycle 3: 1612‐1637, 2004.
 174.Mansharamani M, Wilson KL. Direct binding of nuclear membrane protein MAN1 to emerin in vitro and two modes of binding to barrier‐to‐autointegration factor. J Biol Chem 280: 13863‐13870, 2005.
 175.Margalit A, Brachner A, Gotzmann J, Foisner R, Gruenbaum Y. Barrier‐to‐autointegration factor–a BAFfling little protein. Trends Cell Biol 17: 202‐208, 2007.
 176.Markiewicz E, Tilgner K, Barker N, van de Wetering M, Clevers H, Dorobek M, Hausmanowa‐Petrusewicz I, Ramaekers FC, Broers JL, Blankesteijn WM, Salpingidou G, Wilson RG, Ellis JA, Hutchison CJ. The inner nuclear membrane protein emerin regulates beta‐catenin activity by restricting its accumulation in the nucleus. EMBO J 25: 3275‐3285, 2006.
 177.Marsden CD. The problem of adult‐onset idiopathic torsion dystonia and other isolated dyskinesias in adult life (including blepharospasm, oromandibular dystonia, dystonic writer's cramp, and torticollis, or axial dystonia). Adv Neurol 14: 259‐276, 1976.
 178.Marsden CD, Harrison MJ, Bundey S. Natural history of idiopathic torsion dystonia. Adv Neurol 14: 177‐187, 1976.
 179.Massague J, Cheifetz S, Endo T, Nadal‐Ginard B. Type beta transforming growth factor is an inhibitor of myogenic differentiation. Proc Natl Acad Sci U S A 83: 8206‐8210, 1986.
 180.McGee MD, Rillo R, Anderson AS, Starr DA. UNC‐83 IS a KASH protein required for nuclear migration and is recruited to the outer nuclear membrane by a physical interaction with the SUN protein UNC‐84. Mol Biol Cell 17: 1790‐1801, 2006.
 181.McGee MD, Stagljar I, Starr DA. KDP‐1 is a nuclear envelope KASH protein required for cell‐cycle progression. J Cell Sci 122: 2895‐2905, 2009.
 182.McKeon FD, Kirschner MW, Caput D. Homologies in both primary and secondary structure between nuclear envelope and intermediate filament proteins. Nature 319: 463‐468, 1986.
 183.McPherson JP, Sarras H, Lemmers B, Tamblyn L, Migon E, Matysiak‐Zablocki E, Hakem A, Azami SA, Cardoso R, Fish J, Sanchez O, Post M, Hakem R. Essential role for Bclaf1 in lung development and immune system function. Cell Death Differ 16: 331‐339, 2009.
 184.Meaburn KJ, Cabuy E, Bonne G, Levy N, Morris GE, Novelli G, Kill IR, Bridger JM. Primary laminopathy fibroblasts display altered genome organization and apoptosis. Aging Cell 6: 139‐153, 2007.
 185.Mejat A, Misteli T. LINC complexes in health and disease. Nucleus 1: 40‐52, 2010.
 186.Melcon G, Kozlov S, Cutler DA, Sullivan T, Hernandez L, Zhao P, Mitchell S, Nader G, Bakay M, Rottman JN, Hoffman EP, Stewart CL. Loss of emerin at the nuclear envelope disrupts the Rb1/E2F and MyoD pathways during muscle regeneration. Hum Mol Genet 15: 637‐651, 2006.
 187.Mendez‐Lopez I, Worman HJ. Inner nuclear membrane proteins: Impact on human disease. Chromosoma 121: 153‐167, 2012.
 188.Menezes MP, Waddell LB, Evesson FJ, Cooper S, Webster R, Jones K, Mowat D, Kiernan MC, Johnston HM, Corbett A, Harbord M, North KN, Clarke NF. Importance and challenge of making an early diagnosis in LMNA‐related muscular dystrophy. Neurology 78: 1258‐1263, 2012.
 189.Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith AC, Perry MB, Brewer CC, Zalewski C, Kim HJ, Solomon B, Brooks BP, Gerber LH, Turner ML, Domingo DL, Hart TC, Graf J, Reynolds JC, Gropman A, Yanovski JA, Gerhard‐Herman M, Collins FS, Nabel EG, Cannon RO, III, Gahl WA, Introne WJ. Phenotype and course of Hutchinson‐Gilford progeria syndrome. N Engl J Med 358: 592‐604, 2008.
 190.Merz C, Urlaub H, Will CL, Luhrmann R. Protein composition of human mRNPs spliced in vitro and differential requirements for mRNP protein recruitment. RNA 13: 116‐128, 2007.
 191.Meuleman W, Peric‐Hupkes D, Kind J, Beaudry JB, Pagie L, Kellis M, Reinders M, Wessels L, van Steensel B. Constitutive nuclear lamina‐genome interactions are highly conserved and associated with A/T‐rich sequence. Genome Res 23: 270‐280, 2013.
 192.Meune C, Van Berlo JH, Anselme F, Bonne G, Pinto YM, Duboc D. Primary prevention of sudden death in patients with lamin A/C gene mutations. N Engl J Med 354: 209‐210, 2006.
 193.Mewborn SK, Puckelwartz MJ, Abuisneineh F, Fahrenbach JP, Zhang Y, MacLeod H, Dellefave L, Pytel P, Selig S, Labno CM, Reddy K, Singh H, McNally E. Altered chromosomal positioning, compaction, and gene expression with a lamin A/C gene mutation. PLoS One 5: e14342, 2010.
 194.Meyer AJ, Almendrala DK, Go MM, Krauss SW. Structural protein 4.1R is integrally involved in nuclear envelope protein localization, centrosome‐nucleus association and transcriptional signaling. J Cell Sci 124: 1433‐1444, 2011.
 195.Milon BC, Cheng H, Tselebrovsky MV, Lavrov SA, Nenasheva VV, Mikhaleva EA, Shevelyov YY, Nurminsky DI. Role of histone deacetylases in gene regulation at nuclear lamina. PLoS One 7: e49692, 2012.
 196.Mislow JMK, Holaska JM, Kim MS, Lee KK, Segura‐Totten M, Wilson KL, McNally EM. Nesprin‐1a self‐associates and binds directly to emerin and lamin A in vitro. FEBS Lett 525: 135‐140, 2002.
 197.Miyoshi Y, Akagi M, Agarwal AK, Namba N, Kato‐Nishimura K, Mohri I, Yamagata M, Nakajima S, Mushiake S, Shima M, Auchus RJ, Taniike M, Garg A, Ozono K. Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings. Clin Genet 73: 535‐544, 2008.
 198.Montes de Oca R, Andreassen PR, Wilson KL. Barrier‐to‐autointegration factor influences specific histone modifications. Nucleus 2: 580‐590, 2011.
 199.Montes de Oca R, Lee KK, Wilson KL. Binding of barrier to autointegration factor (BAF) to histone H3 and selected linker histones including H1.1. J Biol Chem 280: 42252‐42262, 2005.
 200.Morris GE, Manilal S. Heart to heart: From nuclear proteins to Emery‐Dreifuss muscular dystrophy. Hum Mol Genet 8: 1847‐1851, 1999.
 201.Moulson CL, Go G, Gardner JM, van der Wal AC, Smitt JH, van Hagen JM, Miner JH. Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy. J Invest Dermatol 125: 913‐919, 2005.
 202.Muchir A, Bonne G, van der Kooi AJ, van Meegen M, Baas F, Bolhuis PA, de Visser M, Schwartz K. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet 9: 1453‐1459 [Record as supplied by publisher], 2000.
 203.Muchir A, Pavlidis P, Bonne G, Hayashi YK, Worman HJ. Activation of MAPK in hearts of EMD null mice: Similarities between mouse models of X‐linked and autosomal dominant Emery Dreifuss muscular dystrophy. Hum Mol Genet 16: 1884‐1895, 2007.
 204.Muchir A, Shan J, Bonne G, Lehnart SE, Worman HJ. Inhibition of extracellular signal‐regulated kinase signaling to prevent cardiomyopathy caused by mutation in the gene encoding A‐type lamins. Hum Mol Genet 18: 241‐247, 2009.
 205.Muchir A, Worman HJ. Emery‐Dreifuss muscular dystrophy. Curr Neurol Neurosci Rep 7: 78‐83, 2007.
 206.Muchir A, Wu W, Worman HJ. Reduced expression of A‐type lamins and emerin activates extracellular signal‐regulated kinase in cultured cells. Biochim Biophys Acta 1792: 75‐81, 2009.
 207.Muchir A, Wu W, Worman HJ. Reduced expression of A‐type lamins and emerin activates extracellular signal‐regulated kinase in cultured cells. Biochim Biophys Acta 1792: 75‐81, 2009.
 208.Mull A, Kim G, Holaska JM. LMO7‐null mice exhibit phenotypes consistent with Emery‐Dreifuss muscular dystrophy. Muscle Nerve 51: 222‐228, 2015.
 209.Muntoni F, Bonne G, Goldfarb LG, Mercuri E, Piercy RJ, Burke M, Yaou RB, Richard P, Recan D, Shatunov A, Sewry CA, Brown SC. Disease severity in dominant Emery‐Dreifuss is increased by mutations in both emerin and desmin proteins. Brain 129: 1260‐1268, 2006.
 210.Nagano A, Koga R, Ogawa M, Kurano Y, Kawada J, Okada R, Hayashi YK, Tsukahara T, Arahata K. Emerin deficiency at the nuclear membrane in patients with Emery‐Dreifuss muscular dystrophy. Nat Genet 12: 254‐259, 1996.
 211.Naismith TV, Dalal S, Hanson PI. Interaction of torsinA with its major binding partners is impaired by the dystonia‐associated DeltaGAG deletion. J Biol Chem 284: 27866‐27874, 2009.
 212.Navarro CL, Cadinanos J, De Sandre‐Giovannoli A, Bernard R, Courrier S, Boccaccio I, Boyer A, Kleijer WJ, Wagner A, Giuliano F, Beemer FA, Freije JM, Cau P, Hennekam RC, Lopez‐Otin C, Badens C, Levy N. Loss of ZMPSTE24 (FACE‐1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors. Hum Mol Genet 14: 1503‐1513, 2005.
 213.Navarro CL, De Sandre‐Giovannoli A, Bernard R, Boccaccio I, Boyer A, Genevieve D, Hadj‐Rabia S, Gaudy‐Marqueste C, Smitt HS, Vabres P, Faivre L, Verloes A, Van Essen T, Flori E, Hennekam R, Beemer FA, Laurent N, Le Merrer M, Cau P, Levy N. Lamin A and ZMPSTE24 (FACE‐1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum Mol Genet 13: 2493‐2503, 2004.
 214.Nemeth AH. The genetics of primary dystonias and related disorders. Brain 125: 695‐721, 2002.
 215.Neumann S, Schneider M, Daugherty RL, Gottardi CJ, Eming SA, Beijer A, Noegel AA, Karakesisoglou I. Nesprin‐2 interacts with {alpha}‐catenin and regulates Wnt signaling at the nuclear envelope. J Biol Chem 285: 34932‐34938, 2010.
 216.Novelli G, Muchir A, Sangiuolo F, Helbling‐Leclerc A, D'Apice MR, Massart C, Capon F, Sbraccia P, Federici M, Lauro R, Tudisco C, Pallotta R, Scarano G, Dallapiccola B, Merlini L, Bonne G. Mandibuloacral dysplasia is caused by a mutation in LMNA‐encoding lamin A/C. Am J Hum Genet 71: 426‐431, 2002.
 217.Ognibene A, Sabatelli P, Petrini S, Squarzoni S, Riccio M, Santi S, Villanova M, Palmeri S, Merlini L, Maraldi NM. Nuclear changes in a case of X‐linked Emery‐Dreifuss muscular dystrophy. Muscle Nerve 22: 864‐869, 1999.
 218.Ohanian V, Gratzer W. Preparation of red‐cell‐membrane cytoskeletal constituents and characterisation of protein 4.1. Eur J Biochem 144: 375‐379, 1984.
 219.Ohanian V, Wolfe LC, John KM, Pinder JC, Lux SE, Gratzer WB. Analysis of the ternary interaction of the red cell membrane skeletal proteins spectrin, actin, and 4.1. Biochemistry 23: 4416‐4420, 1984.
 220.Olins AL, Rhodes G, Welch DB, Zwerger M, Olins DE. Lamin B receptor: Multi‐tasking at the nuclear envelope. Nucleus 1: 53‐70, 2010.
 221.Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M. Global, in vivo, and site‐specific phosphorylation dynamics in signaling networks. Cell 127: 635‐648, 2006.
 222.Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. Sci Signal 3: ra3, 2010.
 223.Ooshio T, Irie K, Morimoto K, Fukuhara A, Imai T, Takai Y. Involvement of LMO7 in the association of two cell‐cell adhesion molecules, nectin and E‐cadherin, through afadin and alpha‐actinin in epithelial cells. J Biol Chem 279: 31365‐31373, 2004.
 224.Oosterwijk JC, Mansour S, van Noort G, Waterham HR, Hall CM, Hennekam RC. Congenital abnormalities reported in Pelger‐Huet homozygosity as compared to Greenberg/HEM dysplasia: Highly variable expression of allelic phenotypes. J Med Genet 40: 937‐941, 2003.
 225.Osada S, Ohmori SY, Taira M. XMAN1, an inner nuclear membrane protein, antagonizes BMP signaling by interacting with Smad1 in Xenopus embryos. Development 130: 1783‐1794, 2003.
 226.Ostlund C EJ, Hallberg E, Lippincott‐Schwartz J, Worman HJ. Intracellular trafficking of emerin, the Emery‐Dreifuss muscular dystrophy protein. J Cell Sci 112: 1709‐1719, 1999.
 227.Ostlund C, Sullivan T, Stewart CL, Worman HJ. Dependence of diffusional mobility of integral inner nuclear membrane proteins on A‐type lamins. Biochemistry 45: 1374‐1382, 2006.
 228.Otto A, Schmidt C, Luke G, Allen S, Valasek P, Muntoni F, Lawrence‐Watt D, Patel K. Canonical Wnt signalling induces satellite‐cell proliferation during adult skeletal muscle regeneration. J Cell Sci 121: 2939‐2950, 2008.
 229.Ozawa R, Hayashi YK, Ogawa M, Kurokawa R, Matsumoto H, Noguchi S, Nonaka I, Nishino I. Emerin‐lacking mice show minimal motor and cardiac dysfunctions with nuclear‐associated vacuoles. Am J Pathol 168: 907‐917, 2006.
 230.Ozelius LJ, Hewett JW, Page CE, Bressman SB, Kramer PL, Shalish C, de Leon D, Brin MF, Raymond D, Corey DP, Fahn S, Risch NJ, Buckler AJ, Gusella JF, Breakefield XO. The early‐onset torsion dystonia gene (DYT1) encodes an ATP‐binding protein. Nat Genet 17: 40‐48, 1997.
 231.Padiath QS, Saigoh K, Schiffmann R, Asahara H, Yamada T, Koeppen A, Hogan K, Ptacek LJ, Fu YH. Lamin B1 duplications cause autosomal dominant leukodystrophy. Nat Genet 38: 1114‐1123, 2006.
 232.Padmakumar VC, Libotte T, Lu W, Zaim H, Abraham S, Noegel AA, Gotzmann J, Foisner R, Karakesisoglou I. The inner nuclear membrane protein Sun1 mediates the anchorage of Nesprin‐2 to the nuclear envelope. J Cell Sci 118: 3419‐3430, 2005.
 233.Pan C, Olsen JV, Daub H, Mann M. Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics. Mol Cell Proteomics 8: 2796‐2808, 2009.
 234.Pan D, Estevez‐Salmeron LD, Stroschein SL, Zhu X, He J, Zhou S, Luo K. The integral inner nuclear membrane protein MAN1 physically interacts with the R‐Smad proteins to repress signaling by the transforming growth factor‐{beta} superfamily of cytokines. J Biol Chem 280: 15992‐16001, 2005.
 235.Parfenov VN, Davis DS, Pochukalina GN, Sample CE, Bugaeva EA, Murti KG. Nuclear actin filaments and their topological changes in frog oocytes. Exp Cell Res 217: 385‐394, 1995.
 236.Pederson T, Aebi U. Actin in the nucleus: What form and what for? J Struct Biol 140: 3‐9, 2002.
 237.Peric‐Hupkes D, Meuleman W, Pagie L, Bruggeman SW, Solovei I, Brugman W, Graf S, Flicek P, Kerkhoven RM, van Lohuizen M, Reinders M, Wessels L, van Steensel B. Molecular maps of the reorganization of genome‐nuclear lamina interactions during differentiation. Mol Cell 38: 603‐613, 2010.
 238.Pickersgill H, Kalverda B, de Wit E, Talhout W, Fornerod M, van Steensel B. Characterization of the Drosophila melanogaster genome at the nuclear lamina. Nat Genet 38: 1005‐1014, 2006.
 239.Pinder JC, Ohanian V, Gratzer WB. Spectrin and protein 4.1 as an actin filament capping complex. FEBS Lett 169: 161‐164, 1984.
 240.Pinheiro I, Margueron R, Shukeir N, Eisold M, Fritzsch C, Richter FM, Mittler G, Genoud C, Goyama S, Kurokawa M, Son J, Reinberg D, Lachner M, Jenuwein T. Prdm3 and Prdm16 are H3K9me1 methyltransferases required for mammalian heterochromatin integrity. Cell 150: 948‐960, 2012.
 241.Polesskaya A, Seale P, Rudnicki MA. Wnt signaling induces the myogenic specification of resident CD45+ adult stem cells during muscle regeneration. Cell 113: 841‐852, 2003.
 242.Prokocimer M, Davidovich M, Nissim‐Rafinia M, Wiesel‐Motiuk N, Bar DZ, Barkan R, Meshorer E, Gruenbaum Y. Nuclear lamins: Key regulators of nuclear structure and activities. J Cell Mol Med 13: 1059‐1085, 2009.
 243.Puckelwartz M, McNally EM. Emery‐Dreifuss muscular dystrophy. Handb Clin Neurol 101: 155‐166, 2011.
 244.Puckelwartz MJ, Depreux FF, McNally EM. Gene expression, chromosome position and lamin A/C mutations. Nucleus 2: 162‐167, 2011.
 245.Puente XS, Quesada V, Osorio FG, Cabanillas R, Cadinanos J, Fraile JM, Ordonez GR, Puente DA, Gutierrez‐Fernandez A, Fanjul‐Fernandez M, Levy N, Freije JM, Lopez‐Otin C. Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome. Am J Hum Genet 88: 650‐656, 2011.
 246.Putilina T, Jaworski C, Gentleman S, McDonald B, Kadiri M, Wong P. Analysis of a human cDNA containing a tissue‐specific alternatively spliced LIM domain. Biochem Biophys Res Commun 252: 433‐439, 1998.
 247.Raffaele Di Barletta M, Ricci E, Galluzzi G, Tonali P, Mora M, Morandi L, Romorini A, Voit T, Orstavik KH, Merlini L, Trevisan C, Biancalana V, Housmanowa‐Petrusewicz I, Bione S, Ricotti R, Schwartz K, Bonne G, Toniolo D. Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery‐Dreifuss muscular dystrophy. Am J Hum Genet 66: 1407‐1412, 2000.
 248.Rajgor D, Shanahan CM. Nesprins: From the nuclear envelope and beyond. Expert Rev Mol Med 15: e5, 2013.
 249.Raju GP, Dimova N, Klein PS, Huang HC. SANE, a novel LEM domain protein, regulates BMP signaling through interaction with Smad1. J Biol Chem 278: 428‐437, 2003.
 250.Ranuncolo SM, Ghosh S, Hanover JA, Hart GW, Lewis BA. Evidence of the involvement of O‐GlcNAc‐modified human RNA polymerase II CTD in transcription in vitro and in vivo. J Biol Chem 287: 23549‐23561, 2012.
 251.Rashmi RN, Eckes B, Glockner G, Groth M, Neumann S, Gloy J, Sellin L, Walz G, Schneider M, Karakesisoglou I, Eichinger L, Noegel AA. The nuclear envelope protein Nesprin‐2 has roles in cell proliferation and differentiation during wound healing. Nucleus 3: 172‐186, 2012.
 252.Reddy KL, Zullo JM, Bertolino E, Singh H. Transcriptional repression mediated by repositioning of genes to the nuclear lamina. Nature 452: 243‐247, 2008.
 253.Renard D, Fourcade G, Milhaud D, Bessis D, Esteves‐Vieira V, Boyer A, Roll P, Bourgeois P, Levy N, De Sandre‐Giovannoli A. Novel LMNA mutation in atypical Werner syndrome presenting with ischemic disease. Stroke 40: e11‐14, 2009.
 254.Renert AF, Leprince P, Dieu M, Renaut J, Raes M, Bours V, Chapelle JP, Piette J, Merville MP, Fillet M. The proapoptotic C16‐ceramide‐dependent pathway requires the death‐promoting factor Btf in colon adenocarcinoma cells. J Proteome Res 8: 4810‐4822, 2009.
 255.Renou L, Stora S, Yaou RB, Volk M, Sinkovec M, Demay L, Richard P, Peterlin B, Bonne G. Heart‐hand syndrome of Slovenian type: A new kind of laminopathy. J Med Genet 45: 666‐671, 2008.
 256.Ridgeway AG, Petropoulos H, Wilton S, Skerjanc IS. Wnt signaling regulates the function of MyoD and myogenin. J Biol Chem 275: 32398‐32405, 2000.
 257.Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B. System‐wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. Sci Signal 4: rs3, 2011.
 258.Roberts RC, Sutherland‐Smith AJ, Wheeler MA, Jensen ON, Emerson LJ, Spiliotis, II, Tate CG, Kendrick‐Jones J, Ellis JA. The Emery‐Dreifuss muscular dystrophy associated‐protein emerin is phosphorylated on serine 49 by protein kinase A. Febs J 273: 4562‐4575, 2006.
 259.Rowat AC, Lammerding J, Ipsen JH. Mechanical properties of the cell nucleus and the effect of emerin deficiency. Biophys J 91: 4649‐4664, 2006.
 260.Rozenblum E, Vahteristo P, Sandberg T, Bergthorsson JT, Syrjakoski K, Weaver D, Haraldsson K, Johannsdottir HK, Vehmanen P, Nigam S, Golberger N, Robbins C, Pak E, Dutra A, Gillander E, Stephan DA, Bailey‐Wilson J, Juo SH, Kainu T, Arason A, Barkardottir RB, Nevanlinna H, Borg A, Kallioniemi OP. A genomic map of a 6‐Mb region at 13q21‐q22 implicated in cancer development: Identification and characterization of candidate genes. Hum Genet 110: 111‐121, 2002.
 261.Rush J, Moritz A, Lee KA, Guo A, Goss VL, Spek EJ, Zhang H, Zha XM, Polakiewicz RD, Comb MJ. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. Nat Biotechnol 23: 94‐101, 2005.
 262.Saitoh N, Spahr CS, Patterson SD, Bubulya P, Neuwald AF, Spector DL. Proteomic analysis of interchromatin granule clusters. Mol Biol Cell 15: 3876‐3890, 2004.
 263.Sakabe K, Wang Z, Hart GW. Beta‐N‐acetylglucosamine (O‐GlcNAc) is part of the histone code. Proc Natl Acad Sci U S A 107: 19915‐19920, 2010.
 264.Sakaki M, Koike H, Takahashi N, Sasagawa N, Tomioka S, Arahata K, Ishiura S. Interaction between emerin and nuclear lamins. J Biochem (Tokyo) 129: 321‐327, 2001.
 265.Samwer M, Dehne HJ, Spira F, Kollmar M, Gerlich DW, Urlaub H, Gorlich D. The nuclear F‐actin interactome of Xenopus oocytes reveals an actin‐bundling kinesin that is essential for meiotic cytokinesis. EMBO J 32: 1886‐1902, 2013.
 266.Sarras H, Alizadeh Azami S, McPherson JP. In search of a function for BCLAF1. ScientificWorldJournal 10: 1450‐1461, 2010.
 267.Scaffidi P, Misteli T. Lamin A‐dependent misregulation of adult stem cells associated with accelerated ageing. Nat Cell Biol 10: 452‐459, 2008.
 268.Scaffidi P, Misteli T. Lamin A‐dependent nuclear defects in human aging. Science 312: 1059‐1063, 2006.
 269.Schirmer EC, Florens L, Guan T, Yates JR, III, Gerace L. Nuclear membrane proteins with potential disease links found by subtractive proteomics. Science 301: 1380‐1382, 2003.
 270.Schirmer EC, Guan T, Gerace L. Involvement of the lamin rod domain in heterotypic lamin interactions important for nuclear organization. J Cell Biol 153: 479‐489, 2001.
 271.Schmidt HH, Genschel J, Baier P, Schmidt M, Ockenga J, Tietge UJ, Propsting M, Buttner C, Manns MP, Lochs H, Brabant G. Dyslipemia in familial partial lipodystrophy caused by an R482W mutation in the LMNA gene. J Clin Endocrinol Metab 86: 2289‐2295, 2001.
 272.Schneider M, Lu W, Neumann S, Brachner A, Gotzmann J, Noegel AA, Karakesisoglou I. Molecular mechanisms of centrosome and cytoskeleton anchorage at the nuclear envelope. Cell Mol Life Sci 68: 1593‐1610, 2011.
 273.Schuster J, Sundblom J, Thuresson AC, Hassin‐Baer S, Klopstock T, Dichgans M, Cohen OS, Raininko R, Melberg A, Dahl N. Genomic duplications mediate overexpression of lamin B1 in adult‐onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms. Neurogenetics 12: 65‐72, 2011.
 274.Segura‐Totten M, Kowalski AM, Craigie R, Wilson KL. Barrier‐to‐autointegration factor: Major roles in chromatin decondensation and nuclear assembly. J Cell Biol 158: 475‐485, 2002.
 275.Segura‐Totten M, Wilson K. BAF: Roles in chromatin, nuclear structure and retrovirus integration. Trends Cell Biol 14: 261‐266, 2004.
 276.Semenova E, Wang X, Jablonski MM, Levorse J, Tilghman SM. An engineered 800 kilobase deletion of Uchl3 and Lmo7 on mouse chromosome 14 causes defects in viability, postnatal growth and degeneration of muscle and retina. Hum Mol Genet 12: 1301‐1312, 2003.
 277.Sewry CA, Brown SC, Mercuri E, Bonne G, Feng L, Camici G, Morris GE, Muntoni F. Skeletal muscle pathology in autosomal dominant Emery‐Dreifuss muscular dystrophy with lamin A/C mutations. Neuropathol Appl Neurobiol 27: 281‐290, 2001.
 278.Shackleton S, Lloyd DJ, Jackson SN, Evans R, Niermeijer MF, Singh BM, Schmidt H, Brabant G, Kumar S, Durrington PN, Gregory S, O'Rahilly S, Trembath RC. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy [see comments]. Nat Genet 24: 153‐156, 2000.
 279.Shen JJ, Brown CA, Lupski JR, Potocki L. Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C. J Med Genet 40: 854‐857, 2003.
 280.Shevelyov YY, Nurminsky DI. The nuclear lamina as a gene‐silencing hub. Curr Issues Mol Biol 14: 27‐38, 2012.
 281.Shimi T, Butin‐Israeli V, Adam SA, Goldman RD. Nuclear lamins in cell regulation and disease. Cold Spring Harb Symp Quant Biol 75: 525‐531, 2010.
 282.Shimi T, Butin‐Israeli V, Goldman RD. The functions of the nuclear envelope in mediating the molecular crosstalk between the nucleus and the cytoplasm. Curr Opin Cell Biol 24: 71‐78, 2012.
 283.Shumaker DK, Solimando L, Sengupta K, Shimi T, Adam SA, Grunwald A, Strelkov SV, Aebi U, Cardoso MC, Goldman RD. The highly conserved nuclear lamin Ig‐fold binds to PCNA: Its role in DNA replication. J Cell Biol 181: 269‐280, 2008.
 284.Simha V, Agarwal AK, Oral EA, Fryns JP, Garg A. Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia‐associated lipodystrophy. J Clin Endocrinol Metab 88: 2821‐2824, 2003.
 285.Simon DN, Wilson KL. The nucleoskeleton as a genome‐associated dynamic ‘network of networks’. Nat Rev Mol Cell Biol 12: 695‐708, 2011.
 286.Simon DN, Zastrow MS, Wilson KL. Direct actin binding to A‐ and B‐type lamin tails and actin filament bundling by the lamin A tail. Nucleus 1: 264‐272, 2010.
 287.Sinkovec M, Petrovic D, Volk M, Peterlin B. Familial progressive sinoatrial and atrioventricular conduction disease of adult onset with sudden death, dilated cardiomyopathy, and brachydactyly. A new type of heart‐hand syndrome? Clin Genet 68: 155‐160, 2005.
 288.Skoko D, Li M, Huang Y, Mizuuchi M, Cai M, Bradley CM, Pease PJ, Xiao B, Marko JF, Craigie R, Mizuuchi K. Barrier‐to‐autointegration factor (BAF) condenses DNA by looping. Proc Natl Acad Sci U S A 106: 16610‐16615, 2009.
 289.Smigiel R, Jakubiak A, Esteves‐Vieira V, Szela K, Halon A, Jurek T, Levy N, De Sandre‐Giovannoli A. Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature. Am J Med Genet A 152A: 447‐452, 2010.
 290.Smitt JH, van Asperen CJ, Niessen CM, Beemer FA, van Essen AJ, Hulsmans RF, Oranje AP, Steijlen PM, Wesby‐van Swaay E, Tamminga P, Breslau‐Siderius EJ. Restrictive dermopathy. Report of 12 cases. Dutch Task Force on Genodermatology. Arch Dermatol 134: 577‐579, 1998.
 291.Somech R, Shaklai S, Geller O, Amariglio N, Simon AJ, Rechavi G, Gal‐Yam EN. The nuclear‐envelope protein and transcriptional repressor LAP2beta interacts with HDAC3 at the nuclear periphery, and induces histone H4 deacetylation. J Cell Sci 118: 4017‐4025, 2005.
 292.Speckman RA, Garg A, Du F, Bennett L, Veile R, Arioglu E, Taylor SI, Lovett M, Bowcock AM. Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C‐terminal domain of lamin A/C. Am J Hum Genet 66: 1192‐1198, 2000.
 293.Sui S, Wang J, Yang B, Song L, Zhang J, Chen M, Liu J, Lu Z, Cai Y, Chen S, Bi W, Zhu Y, He F, Qian X. Phosphoproteome analysis of the human Chang liver cells using SCX and a complementary mass spectrometric strategy. Proteomics 8: 2024‐2034, 2008.
 294.Sullivan T, Escalante‐Alcalde D, Bhatt H, Anver M, Bhat N, Nagashima K, Stewart CL, Burke B. Loss of A‐type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy. J Cell Biol 147: 913‐920, 1999.
 295.Tao WA, Wollscheid B, O'Brien R, Eng JK, Li XJ, Bodenmiller B, Watts JD, Hood L, Aebersold R. Quantitative phosphoproteome analysis using a dendrimer conjugation chemistry and tandem mass spectrometry. Nat Methods 2: 591‐598, 2005.
 296.Tazir M, Azzedine H, Assami S, Sindou P, Nouioua S, Zemmouri R, Hamadouche T, Chaouch M, Feingold J, Vallat JM, Leguern E, Grid D. Phenotypic variability in autosomal recessive axonal Charcot‐Marie‐Tooth disease due to the R298C mutation in lamin A/C. Brain 127: 154‐163, 2004.
 297.Tifft KE, Bradbury KA, Wilson KL. Tyrosine phosphorylation of nuclear‐membrane protein emerin by Src, Abl and other kinases. J Cell Sci 122: 3780‐3790, 2009.
 298.Tilgner K, Wojciechowicz K, Jahoda C, Hutchison C, Markiewicz E. Dynamic complexes of A‐type lamins and emerin influence adipogenic capacity of the cell via nucleocytoplasmic distribution of beta‐catenin. J Cell Sci 122: 401‐413, 2009.
 299.Towbin BD, Gonzalez‐Aguilera C, Sack R, Gaidatzis D, Kalck V, Meister P, Askjaer P, Gasser SM. Step‐wise methylation of histone H3K9 positions heterochromatin at the nuclear periphery. Cell 150: 934‐947, 2012.
 300.Tsai CF, Wang YT, Chen YR, Lai CY, Lin PY, Pan KT, Chen JY, Khoo KH, Chen YJ. Immobilized metal affinity chromatography revisited: pH/acid control toward high selectivity in phosphoproteomics. J Proteome Res 7: 4058‐4069, 2008.
 301.Tsuchiya Y, Hase A, Ogawa M, Yorifuji H, Arahata K. Distinct regions specify the nuclear membrane targeting of emerin, the responsible protein for Emery‐Dreifuss muscular dystrophy. Eur J Biochem 259: 859‐865, 1999.
 302.Tunnah D, Sewry CA, Vaux D, Schirmer EC, Morris GE. The apparent absence of lamin B1 and emerin in many tissue nuclei is due to epitope masking. J Mol Histol 36: 337‐344, 2005.
 303.Vadrot N, Duband‐Goulet I, Cabet E, Attanda W, Barateau A, Vicart P, Gerbal F, Briand N, Vigouroux C, Oldenburg AR, Lund EG, Collas P, Buendia B. The p.R482W substitution in A‐type lamins deregulates SREBP1 activity in Dunnigan‐type familial partial lipodystrophy. Hum Mol Genet 24: 2096‐2109, 2015.
 304.van der Kooi AJ, Barth PG, Busch HF, de Haan R, Ginjaar HB, van Essen AJ, van Hooff LJ, Howeler CJ, Jennekens FG, Jongen P, Oosterhuis HJ, Padberg GW, Spaans F, Wintzen AR, Wokke JH, Bakker E, van Ommen GJ, Bolhuis PA, de Visser M. The clinical spectrum of limb girdle muscular dystrophy. A survey in The Netherlands. Brain 119(Pt 5): 1471‐1480, 1996.
 305.van der Kooi AJ, Ledderhof TM, de Voogt WG, Res CJ, Bouwsma G, Troost D, Busch HF, Becker AE, de Visser M. A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement. Ann Neurol 39: 636‐642, 1996.
 306.van Engelen BG, Muchir A, Hutchison CJ, van der Kooi AJ, Bonne G, Lammens M. The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene. Neurology 64: 374‐376, 2005.
 307.Vander Heyden AB, Naismith TV, Snapp EL, Hodzic D, Hanson PI. LULL1 retargets TorsinA to the nuclear envelope revealing an activity that is impaired by the DYT1 dystonia mutation. Mol Biol Cell 20: 2661‐2672, 2009.
 308.Vigouroux C, Auclair M, Dubosclard E, Pouchelet M, Capeau J, Courvalin JC, Buendia B. Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene. J Cell Sci 114: 4459‐4468, 2001.
 309.Vlcek S, Foisner R. Lamins and lamin‐associated proteins in aging and disease. Curr Opin Cell Biol 19: 298‐304, 2007.
 310.Vytopil M, Benedetti S, Ricci E, Galluzzi G, Dello Russo A, Merlini L, Boriani G, Gallina M, Morandi L, Politano L, Moggio M, Chiveri L, Hausmanova‐Petrusewicz I, Ricotti R, Vohanka S, Toman J, Toniolo D. Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. J Med Genet 40: e132, 2003.
 311.Wang X, Xu S, Rivolta C, Li LY, Peng GH, Swain PK, Sung CH, Swaroop A, Berson EL, Dryja TP, Chen S. Barrier to autointegration factor interacts with the cone‐rod homeobox and represses its transactivation function. J Biol Chem 277: 43288‐43300, 2002.
 312.Warren DT, Tajsic T, Mellad JA, Searles R, Zhang Q, Shanahan CM. Novel nuclear nesprin‐2 variants tether active extracellular signal‐regulated MAPK1 and MAPK2 at promyelocytic leukemia protein nuclear bodies and act to regulate smooth muscle cell proliferation. J Biol Chem 285: 1311‐1320, 2010.
 313.Warren DT, Zhang Q, Weissberg PL, Shanahan CM. Nesprins: Intracellular scaffolds that maintain cell architecture and coordinate cell function? Expert Rev Mol Med 7: 1‐15, 2005.
 314.Waterham HR, Koster J, Mooyer P, Noort Gv G, Kelley RI, Wilcox WR, Wanders RJ, Hennekam RC, Oosterwijk JC. Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta‐hydroxysterol delta 14‐reductase deficiency due to mutations in the lamin B receptor gene. Am J Hum Genet 72: 1013‐1017, 2003.
 315.Wheeler MA, Warley A, Roberts RG, Ehler E, Ellis JA. Identification of an emerin‐beta‐catenin complex in the heart important for intercalated disc architecture and beta‐catenin localisation. Cell Mol Life Sci 67: 781‐796, 2010.
 316.Wiesel N, Mattout A, Melcer S, Melamed‐Book N, Herrmann H, Medalia O, Aebi U, Gruenbaum Y. Laminopathic mutations interfere with the assembly, localization, and dynamics of nuclear lamins. Proc Natl Acad Sci U S A 105: 180‐185, 2008.
 317.Wilkie GS, Korfali N, Swanson SK, Malik P, Srsen V, Batrakou DG, de las Heras J, Zuleger N, Kerr AR, Florens L, Schirmer EC. Several novel nuclear envelope transmembrane proteins identified in skeletal muscle have cytoskeletal associations. Mol Cell Proteomics 10: M110 003129, 2011.
 318.Wilkinson FL, Holaska JM, Zhang Z, Sharma A, Manilal S, Holt I, Stamm S, Wilson KL, Morris GE. Emerin interacts in vitro with the splicing‐associated factor, YT521‐B. Eur J Biochem 270: 2459‐2466, 2003.
 319.Witt DR, Hayden MR, Holbrook KA, Dale BA, Baldwin VJ, Taylor GP. Restrictive dermopathy: A newly recognized autosomal recessive skin dysplasia. Am J Med Genet 24: 631‐648, 1986.
 320.Wolff N, Gilquin B, Courchay K, Callebaut I, Worman HJ, Zinn‐Justin S. Structural analysis of emerin, an inner nuclear membrane protein mutated in X‐linked Emery‐Dreifuss muscular dystrophy. FEBS Lett 501: 171‐176, 2001.
 321.Worman HJ. Nuclear lamins and laminopathies. J Pathol 226: 316‐325, 2012.
 322.Worman HJ, Fong LG, Muchir A, Young SG. Laminopathies and the long strange trip from basic cell biology to therapy. J Clin Invest 119: 1825‐1836, 2009.
 323.Wozniak MA, Baker BM, Chen CS, Wilson KL. The emerin‐binding transcription factor Lmo7 is regulated by association with p130Cas at focal adhesions. PeerJ 1: e134, 2013.
 324.Yates JR, Bagshaw J, Aksmanovic VM, Coomber E, McMahon R, Whittaker JL, Morrison PJ, Kendrick‐Jones J, Ellis JA. Genotype‐phenotype analysis in X‐linked Emery‐Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype. Neuromuscul Disord 9: 159‐165, 1999.
 325.Zachara NE, Hart GW. O‐GlcNAc a sensor of cellular state: The role of nucleocytoplasmic glycosylation in modulating cellular function in response to nutrition and stress. Biochim Biophys Acta 1673: 13‐28, 2004.
 326.Zachara NE, Molina H, Wong KY, Pandey A, Hart GW. The dynamic stress‐induced “O‐GlcNAc‐ome” highlights functions for O‐GlcNAc in regulating DNA damage/repair and other cellular pathways. Amino Acids 40: 793‐808, 2011.
 327.Zhang Q, Bethmann C, Worth NF, Davies JD, Wasner C, Feuer A, Ragnauth CD, Yi Q, Mellad JA, Warren DT, Wheeler MA, Ellis JA, Skepper JN, Vorgerd M, Schlotter‐Weigel B, Weissberg PL, Roberts RG, Wehnert M, Shanahan CM. Nesprin‐1 and ‐2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. Hum Mol Genet 16: 2816‐2833, 2007.
 328.Zhang Q, Ragnauth C, Greener MJ, Shanahan CM, Roberts RG. The nesprins are giant actin‐binding proteins, orthologous to Drosophila melanogaster muscle protein MSP‐300. Genomics 80: 473‐481, 2002.
 329.Zhang X, Lei K, Yuan X, Wu X, Zhuang Y, Xu T, Xu R, Han M. SUN1/2 and Syne/Nesprin‐1/2 complexes connect centrosome to the nucleus during neurogenesis and neuronal migration in mice. Neuron 64: 173‐187, 2009.
 330.Zhang X, Xu R, Zhu B, Yang X, Ding X, Duan S, Xu T, Zhuang Y, Han M. Syne‐1 and Syne‐2 play crucial roles in myonuclear anchorage and motor neuron innervation. Development 134: 901‐908, 2007.
 331.Zhen YY, Libotte T, Munck M, Noegel AA, Korenbaum E. NUANCE, a giant protein connecting the nucleus and actin cytoskeleton. J Cell Sci 115: 3207‐3222, 2002.
 332.Zuleger N, Boyle S, Kelly DA, de las Heras JI, Lazou V, Korfali N, Batrakou DG, Randles KN, Morris GE, Harrison DJ, Bickmore WA, Schirmer EC. Specific nuclear envelope transmembrane proteins can promote the location of chromosomes to and from the nuclear periphery. Genome Biol 14: R14, 2013.
 333.Zullo JM, Demarco IA, Pique‐Regi R, Gaffney DJ, Epstein CB, Spooner CJ, Luperchio TR, Bernstein BE, Pritchard JK, Reddy KL, Singh H. DNA sequence‐dependent compartmentalization and silencing of chromatin at the nuclear lamina. Cell 149: 1474‐1487, 2012.
 334.Zuo B, Yang J, Wang F, Wang L, Yin Y, Dan J, Liu N, Liu L. Influences of lamin A levels on induction of pluripotent stem cells. Biol Open 1: 1118‐1127, 2012.

CORRIGENDUM

 

James M. Holaska. Diseases of the Nucleoskeleton. Compr Physiol 2016, 6: 1655-1674. doi: 10.1002/cphy.c150039

 

It has come to my attention that I failed to acknowledge one of the funding sources in this publication. The author wishes to acknowledge that research reported in this publication was supported by the National Institute of Arthritis and Musculoskeletal and Skin Diseases of the National Institutes of Health under award number R15AR069935. The content of this manuscript is solely the responsibility of the author and does not necessarily represent the official views of the National Institutes of Health. The author apologizes for the omission of this acknowledgement in the original publication.

 


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James M. Holaska. Diseases of the Nucleoskeleton. Compr Physiol 2016, 6: 1655-1674. doi: 10.1002/cphy.c150039