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Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity.

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. Zhang Q, et al. Hum Mol Genet. 2007 Dec 1;16(23):2816-33. doi: 10.1093/hmg/ddm238. Epub 2007 Aug 29. Hum Mol Genet. 2007. PMID: 17761684

Nesprin-2 is a multi-isomeric protein that binds lamin and emerin at the nuclear envelope and forms a subcellular network in skeletal muscle.

Zhang Q, Ragnauth CD, Skepper JN, Worth NF, Warren DT, Roberts RG, Weissberg PL, Ellis JA, Shanahan CM. Zhang Q, et al. J Cell Sci. 2005 Feb 15;118(Pt 4):673-87. doi: 10.1242/jcs.01642. Epub 2005 Jan 25. J Cell Sci. 2005. PMID: 15671068

Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration.

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. Bakay M, et al. Brain. 2006 Apr;129(Pt 4):996-1013. doi: 10.1093/brain/awl023. Epub 2006 Feb 14. Brain. 2006. PMID: 16478798

Emery-Dreifuss muscular dystrophy at the nuclear envelope: 10 years on.

Ellis JA. Ellis JA. Cell Mol Life Sci. 2006 Dec;63(23):2702-9. doi: 10.1007/s00018-006-6247-8. Cell Mol Life Sci. 2006. PMID: 17013557 Free PMC article. Review.

Lmo7 is an emerin-binding protein that regulates the transcription of emerin and many other muscle-relevant genes.

Holaska JM, Rais-Bahrami S, Wilson KL. Holaska JM, et al. Hum Mol Genet. 2006 Dec 1;15(23):3459-72. doi: 10.1093/hmg/ddl423. Epub 2006 Oct 26. Hum Mol Genet. 2006. PMID: 17067998

Distinct functional domains in nesprin-1alpha and nesprin-2beta bind directly to emerin and both interactions are disrupted in X-linked Emery-Dreifuss muscular dystrophy.

Wheeler MA, Davies JD, Zhang Q, Emerson LJ, Hunt J, Shanahan CM, Ellis JA. Wheeler MA, et al. Exp Cell Res. 2007 Aug 1;313(13):2845-57. doi: 10.1016/j.yexcr.2007.03.025. Epub 2007 Mar 30. Exp Cell Res. 2007. PMID: 17462627

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.

Bonne G, Mercuri E, Muchir A, Urtizberea A, Bécane 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. Bonne G, et al. Ann Neurol. 2000 Aug;48(2):170-80. Ann Neurol. 2000. PMID: 10939567

TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy.

Liang WC, Mitsuhashi H, Keduka E, Nonaka I, Noguchi S, Nishino I, Hayashi YK. Liang WC, et al. Ann Neurol. 2011 Jun;69(6):1005-13. doi: 10.1002/ana.22338. Epub 2011 Mar 9. Ann Neurol. 2011. PMID: 21391237

Nesprin-2 giant safeguards nuclear envelope architecture in LMNA S143F progeria cells.

Kandert S, Lüke Y, Kleinhenz T, Neumann S, Lu W, Jaeger VM, Munck M, Wehnert M, Müller CR, Zhou Z, Noegel AA, Dabauvalle MC, Karakesisoglou I. Kandert S, et al. Hum Mol Genet. 2007 Dec 1;16(23):2944-59. doi: 10.1093/hmg/ddm255. Epub 2007 Sep 19. Hum Mol Genet. 2007. PMID: 17881656

Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice.

Puckelwartz MJ, Kessler E, Zhang Y, Hodzic D, Randles KN, Morris G, Earley JU, Hadhazy M, Holaska JM, Mewborn SK, Pytel P, McNally EM. Puckelwartz MJ, et al. Hum Mol Genet. 2009 Feb 15;18(4):607-20. doi: 10.1093/hmg/ddn386. Epub 2008 Nov 13. Hum Mol Genet. 2009. PMID: 19008300 Free PMC article.

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