Molecular mechanisms of muscular dystrophies: old and new players

被引:235
作者
Davies, Kay E.
Nowak, Kristen J.
机构
[1] MRC, Dept Physiol Anat & Genet, Funct Genet Unit, Oxford OX1 3QX, England
[2] Univ Western Australia, Med Res Ctr, Western Australian Inst Med Res, QEII Med Ctr, Nedlands, WA 6009, Australia
基金
英国医学研究理事会;
关键词
D O I
10.1038/nrm2024
中图分类号
Q2 [细胞生物学];
学科分类号
071009 ; 090102 ;
摘要
The study of the muscle cell in the muscular dystrophies (MDs) has shown that mutant proteins result in perturbations of many cellular components. MDs have been associated with mutations in structural proteins, signalling molecules and enzymes as well as mutations that result in aberrant processing of mRNA or alterations in post-translational modifications of proteins. These findings have not only revealed important insights for cell biologists, but have also provided unexpected and exciting new approaches for therapy.
引用
收藏
页码:762 / 773
页数:12
相关论文
共 134 条
[1]   Absence of α-syntrophin leads to structurally aberrant neuromuscular synapses deficient in utrophin [J].
Adams, ME ;
Kramarcy, N ;
Krall, SP ;
Rossi, SG ;
Rotundo, RL ;
Sealock, R ;
Froehner, SC .
JOURNAL OF CELL BIOLOGY, 2000, 150 (06) :1385-1397
[2]   In vivo requirement of the α-syntrophin PDZ domain for the sarcolemmal localization of nNOS and aquaporin-4 [J].
Adams, ME ;
Mueller, HA ;
Froehner, SC .
JOURNAL OF CELL BIOLOGY, 2001, 155 (01) :113-122
[3]   Genetic compensation for sarcoglycan loss by integrin α7β1 in muscle [J].
Allikian, MJ ;
Hack, AA ;
Mewborn, S ;
Mayer, U ;
McNally, EM .
JOURNAL OF CELL SCIENCE, 2004, 117 (17) :3821-3830
[4]   Systemic delivery of morpholino oligonucleotide restores dystrophin expression bodywide and improves dystrophic pathology [J].
Alter, J ;
Lou, F ;
Rabinowitz, A ;
Yin, HF ;
Rosenfeld, J ;
Wilton, SD ;
Partridge, TA ;
Lu, QL .
NATURE MEDICINE, 2006, 12 (02) :175-177
[5]   Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IκBα/NF-κB pathway in limb-girdle muscular dystrophy type 2A [J].
Baghdiguian, S ;
Martin, M ;
Richard, I ;
Pons, F ;
Astier, C ;
Bourg, N ;
Hay, RT ;
Chemaly, R ;
Halaby, G ;
Loiselet, J ;
Anderson, LVB ;
de Munain, AL ;
Fardeau, M ;
Mangeat, P ;
Beckmann, JS ;
Lefranc, G .
NATURE MEDICINE, 1999, 5 (05) :503-511
[6]   Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration [J].
Bakay, M ;
Wang, ZY ;
Melcon, G ;
Schiltz, L ;
Xuan, JH ;
Zhao, P ;
Sartorelli, V ;
Seo, J ;
Pegoraro, E ;
Angelini, C ;
Shneiderman, B ;
Escolar, D ;
Chen, YW ;
Winokur, ST ;
Pachman, LM ;
Fan, CG ;
Mandler, R ;
Nevo, Y ;
Gordon, E ;
Zhu, YT ;
Dong, YB ;
Wang, Y ;
Hoffman, EP .
BRAIN, 2006, 129 :996-1013
[7]   Dystroglycan: from biosynthesis to pathogenesis of human disease [J].
Barresi, R ;
Campbell, KP .
JOURNAL OF CELL SCIENCE, 2006, 119 (02) :199-207
[8]   Impact of sarcoglycan complex on mechanical signal transduction in murine skeletal muscle [J].
Barton, ER .
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY, 2006, 290 (02) :C411-C419
[9]   Molecular characteristics and interactions of the intermediate filament protein synemin -: Interactions with α-actinin may anchor synemin-containing heterofilaments [J].
Bellin, RM ;
Sernett, SW ;
Becker, B ;
Ip, W ;
Huiatt, TW ;
Robson, RM .
JOURNAL OF BIOLOGICAL CHEMISTRY, 1999, 274 (41) :29493-29499
[10]   Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome [J].
Beltran-Valero de Bernabé, D ;
Currier, S ;
Steinbrecher, A ;
Celli, J ;
van Beusekom, E ;
van der Zwaag, B ;
Kayserili, H ;
Merlini, L ;
Chitayat, D ;
Dobyns, WB ;
Cormand, B ;
Lehesjoki, AE ;
Cruces, J ;
Voit, T ;
Walsh, CA ;
van Bokhoven, H ;
Brunner, HG .
AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (05) :1033-1043