X-linked emery-dreifuss muscular dystrophy with lamin A deficiency and IBM inclusions

Clinical Neuropathology

Volumn 29, Issue 2, 2010, Pages 78-83

  Fidzianska, A ^a   Niebroj Dobosz I ^a   Madej Pilarczyk, A ^a   Duong, N T ^b   Wehnert, M ^b  

^a MOSSAKOWSKI MEDICAL RESEARCH CENTRE   (Poland)

^b UNIVERSITY OF GREIFSWALD   (Germany)

Author keywords

Dreifuss muscular dystrophy; Emerin; IBM like inclusions; Tubulo filamentous structures

Indexed keywords

EMERIN; LAMIN A;

ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; ELECTROMYOGRAM; EMERY DREIFUSS MUSCULAR DYSTROPHY; EUCHROMATIN; GENE DELETION; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN TISSUE; INCLUSION BODY MYOSITIS; INTRON; JOINT CONTRACTURE; MALE; MUSCLE BIOPSY; MUSCLE RIGIDITY; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; RECTUS FEMORIS MUSCLE;

EID: 77950982570     PISSN: 07225091     EISSN: None     Source Type: Journal    
DOI: 10.5414/npp29078     Document Type: Article

References (21)

1. Manilal S. Nguyen T.M. Sewry C.A. Morris G.E. The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein Human Molecular Genetics 1996 5 6 801-808 DOI 10.1093/hmg/5.6.801 [1] Manilal S, Nguyen TM, Sewry CA, Morris GE. The Emery-Dreifuss muscular dystrophy proteinemerin is a nuclear membrane protein. Hum Mol Genet. 1996; 5: 801-808. (Pubitemid 26171704)
2. Clements L. Manilal S. Love D.R. Morris G.E. Direct interaction between emerin and lamin A Biochemical and Biophysical Research Communications 2000 267 3 709-714 DOI 10.1006/bbrc.1999.2023 [2] Clements L, Manilal S, Love DR, Morris GE. Morris GE Direct interaction between emerin and lamin A. Biochem Biophys Res Commun. 2000; 267: 709-714. (Pubitemid 30099388)
3. Bengtsson L. Wilson K.L. Multiple and surprising new functions for emerin, a nuclear membrane protein Current Opinion in Cell Biology 2004 16 1 73-79 DOI 10.1016/j.ceb.2003.11.012, PII S0955067403001704 [3] Bengtsson L, Wilson KL. Multiple and surprising new functions of emerin and lamin A membrane protein. Curr Opin Cell Biol. 2004; 16: 73-79. (Pubitemid 38368155)
4. Peterson GL. Asimplification of the protein assay method of Lowry et al. which is more generally applicable. Anal Biochem. 1977; 83: 346-356.
5. Laemmli UH. Cleavage of structural proteins during assembly of the head of bacteriophage T4. Nature. 1970; 227: 680-685.
6. Bonne G. Mercuri E. Muchir A. Urtizberea A. Becane H.M. Recan D. Merlini L. Wehnert M. Boor R. Reuner U. Vorgerd M. Wicklein E.M. Eymard B. Duboc D. Penisson-Besnier I. Cuisset J.M. 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 Annals of Neurology 2000 48 2 170-180 DOI 10.1002/1531-8249(200008)48:2<170::AID-ANA6>3.0.CO;2-J [6] 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. Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Ann Neurol. 2000; 48: 170-180. (Pubitemid 30617035)
7. Wulff K. Parrish J.E. Herrmann F.H. Wehnert M. Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy Human Mutation 1997 9 6 526-530 DOI 10.1002/(SICI)1098-1004(1997)9:6<526::AID-HUMU5>3.0. CO;2-# [7] Wulff K, Parrish JE, Herrmann FH, Wehnert M. Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy. Hum Mutat. 1997; 9: 526-530. (Pubitemid 27250816)
8. White MB, Carvalho M, Derse D, O'Brien SJ, Dean M. Detecting single base substitutions as heteroduplex polymorphisms. Genomics. 1992; 12: 301-306.
9. Yates JRW. Emery Dreifuss muscular dystrophy. In: Emery AEH(ed). Diagnostic criteria for neuromuscular disorders. IInd edition. London: Royal Society, Medicine Press; 1997. p. 5-8.
10. Fidzianska A, Glinka Z. Rimmed vacuoles with beta-amyloid and tau protein deposits in the muscle of children with hereditary myopathy. Acta Neuropath. (Berlin) 2006; 112: 185-193.
11. Fidzianska A, Glinka Z. Nuclear architecture remodeling in envelopathies. Folia Neuropathol. 2007; 45: 47-55.
12. Fidzianska A, Glinka Z, Kaminska A, Niebrój-Dobosz I. Altered distribution of lamin and Emerin in muscle nuclei of sIBM patients. Clin Neuropathol. 2008; 27: 424-429.
13. Fidzianska A, Rowinska-Marcinska K, Hausmanowa-Petrusewicz I. Coexistence of X-linked recessive Emery-Dreifuss muscular dystrophy with inclusion body myosistis-like morphology. Acta Neuropathol. (Berlin) 2004; 107: 197-203.
14. Holaska J.M. Lee K.K. Kowalski A.K. Wilson K.L. Transcriptional repressor germ cell-less (GCL) and barrier to autointegration factor (BAF) compete for binding to emerin in vitro Journal of Biological Chemistry 2003 278 9 6969-6975 DOI 10.1074/jbc.M208811200 [14] Holaska J, Lee KK, Kowalski AK, Wilson KL. Transcriptional repressor germ cell-less GCL) and barrier to autointegration factor BAF) compete for binding to emerin in vitro. J Biol Chem. 2003; 278: 6969-16756 (Pubitemid 36800691)
15. Haraguchi T. Holaska J.M. Yamane M. Koujin T. Hashiguchi N. Mori C. Wilson K.L. Hiraoka Y. Emerin binding to Btf, a death-promoting transcriptional repressor, is disrupted by a missense mutation that causes Emery-Dreifuss muscular dystrophy European Journal of Biochemistry 2004 271 5 1035-1045 DOI 10.1111/j.1432-1033.2004.04007.x [15] Haraguchi T, Holaska JM, Yamane M, Koujin T, Hashiguchi N, Mori C, Wilson KL, Hiraoka Y. Emerin binding to Btf a death promoting transcriptional repressor is disrupted by missense mutation that causes Emery-Dreifuss muscular dystrophy. Eur J Biochem. 2004; 271: 1035-1045. (Pubitemid 38299657)
16. Wilkinson F.L. Holaska J.M. Zhang Z. Sharma A. Manilal S. Holt I. Stamm S. Wilson K.L. Morris G.E. Emerin interacts in vitro with the splicing-associated factor, YT521-B European Journal of Biochemistry 2003 270 11 2459-2466 DOI 10.1046/j.1432-1033.2003.03617.x [16] 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 YT-521-B. Eur Biochem. 2003; 270: 43288-43300. (Pubitemid 36645364)
17. Holaska J, Wilson KL. Multiple roles for emerin: implications for Emery-Dreifuss muscular dystrophy. Anat Rec A Discov Mol Cell Evol Biol. 2006; 288: 676-680.
18. 2+/calmodulin- binding protein cleaved by caspases. Biochem Biophys Res Commun. 2007; 361: 281-286.
19. Senderek J, Garvey SM, Krieger M, Guergueltcheva V, Urtizberea A, Roos A, Elbracht M, Stendel C, Tournev I, Mihailova V, Feit H, Tramonte J, Hedera P, Crooks K, Bergmann C, Rudnik-Schöneborn S, Zerres K, Lochmüller H, Seboun E, Weis J, Beckmann JS, Hauser MA, Jackson CE. Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3. Am J Hum Genet. 2009; 84: 511-518.
20. Lattanzi G. Cenni V. Marmiroli S. Capanni C. Mattioli E. Merlini L. Squarzoni S. Maraldi N.M. Association of emerin with nuclear and cytoplasmic actin is regulated in differentiating myoblasts Biochemical and Biophysical Research Communications 2003 303 3 764-770 DOI 10.1016/S0006-291X(03)00415-7 [20] 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. 2003; 303: 764-770. (Pubitemid 36384920)
21. Greenberg SA, Pinkus JL, Amato AA. Nuclear membrane proteins are present within rimmed vacuoles in inclusion body myositis. Muscle Nerve. 2006; 34: 406-416.