Neuromuscular Disorders
Volume 16, Issue 9 , Pages 608-612 , October 2006

Workshop on the nuclear envelope and Emery–Dreifuss muscular dystrophy 29th March 2006, Oswestry, UK

Received 4 July 2006

References 

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  2. Bione S, Maestrini E, Rivella S, Mancini M, Regis S, Romeo G, et al. Identification of a novel X-linked gene responsible for Emery–Dreifuss muscular dystrophy. Nat Genet. 1994;8:323–327
  3. Bonne G, Di Barletta MR, Varnous S, Became HM, Hammouda EH, Merlini L, et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery–Dreifuss muscular dystrophy. Nat Genet. 1999;21:285–288
  4. Manilal S, Nguyenthi Man, Sewry CA, Morris GE. The Emery–Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein. Hum Mol Genet. 1996;5:801–808
  5. Mislow JM, Holaska JM, Kim MS, Lee KK, Segura-Totten M, Wilson KL, et al. Nesprin-1alpha self-associates and binds directly to emerin and lamin A in vitro. FEBS Lett. 2002;525:135–140
  6. Starr DA, Han M. Role of ANC-1 in tethering nuclei to the actin cytoskeleton. Science. 2002;298:406–409
  7. Michele DE, Campbell KP. Dystrophin-glycoprotein complex: post-translational processing and dystroglycan function. J Biol Chem. 2003;278:15457–15460
  8. Haque F, Lloyd D, Smallwood D, Dent C, Shanahan C, Fry A, et al. SUN1 interacts with nuclear lamin A and cytoplasmic nesprins to provide a physical connection between the nuclear lamina and the cytoskeleton. Mol Cell Biol. 2006;26:3738–3751
  9. Schirmer EC, Florens L, Guan T, Yates JR, Gerace L. Nuclear membrane proteins with potential disease links found by subtractive proteomics. Science. 2003;301:1380–1382
  10. Schirmer EC, Gerace L. The nuclear envelope proteome: extending the envelope. Trends Biochem Sci. 2005;30:551
  11. Wilkie GS, Schirmer EC. Guilt by association: the nuclear envelope proteome and disease. Mol Cell Proteomics. 2006;Jun 21; [Epub ahead of print]
  12. Zhang Q, Ragnauth CD, Skepper JN, Worth NF, Warren DT, Roberts RG, et al. Nesprins: a novel family of spectrin-repeat-containing proteins that localize to the nuclear membrane in multiple tissues. J Cell Sci. 2001;114:4485–4498
  13. 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. 2002;80:473–481
  14. Zhang Q, Skepper JN, Yang F, Davies JD, Hegyi L, Roberts RG, et al. Nesprin-2 is a multi-isomeric protein that binds lamin and emerin at the nuclear envelope and forms a subcellular network in skeletal muscle. J Cell Sci. 2005;118:673–687
  15. Zhen Y-Y, Libotte T, Munck M, Noegel AA, Korenbaum E. NUANCE, a giant protein connecting the nucleus and actin cytoskeleton. J Cell Sci. 2002;115:3207–3222
  16. Padmakumar VC, Abraham S, Braune S, Noegel AA, Tunggal B, Karakesisoglou I, et al. Enaptin, a giant actin-binding protein, is an element of the nuclear membrane and the actin cytoskeleton. Exp Cell Res. 2004;295:330–339
  17. Holt I, Nguyen thi Man, Wehnert M, Morris GE. Lamin A/C assembly defects in Emery–Dreifuss muscular dystrophy can be regulated by culture medium composition. Neuromuscul Disord. 2006;16:368–373
  18. Holt I, Ostlund C, Stewart CL, Nguyen thi Man, Worman HJ, Morris GE. Effect of pathogenic mis-sense mutations in lamin A on its interaction with emerin in vivo. J Cell Sci. 2003;116:3027–3035
  19. Boyle S, Gilchrist S, Bridger JM, Mahy NL, Ellis JA, Bickmore WA. The spatial organization of human chromosomes within the nuclei of normal and emerin-mutant cells. Hum Mol Genet. 2001;10:211–219
  20. Meaburn KJ, Levy N, Toniolo D, Bridger JM. Chromosome positioning is largely unaffected in lymphoblastoid cell lines containing emerin or A-type lamin mutations. Biochem Soc Trans. 2005;33:1438–1440
  21. Markiewicz E, Tilgner K, Barker N, van deWetering N, Clevers H, Dorobek M, et al. The inner nuclear membrane protein, emerin, regulates β-catenin activity by restricting its accumulation in the nucleus. EMBO J. 2006;8:3275–3285

PII: S0960-8966(06)00453-6

doi: 10.1016/j.nmd.2006.07.016

Neuromuscular Disorders
Volume 16, Issue 9 , Pages 608-612 , October 2006

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