Desminopathies: Good stuff lost, garbage gained, or the trashman misdirected?

Muscle and Nerve

Volumn 27, Issue 6, 2003, Pages 643-645

  Hoffman, Eric P ^a  

^a CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA CRYSTALLIN; ALPHAB CRYSTALLIN; CELL PROTEIN; CULLIN 1 PROTEIN; DESMIN; F BOX PROTEIN; PROTEASOME; SKIP 1 PROTEIN; UBIQUITIN; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; AUTOSOMAL DOMINANT DISORDER; CARDIOMYOPATHY; DESMINOPATHY; EDITORIAL; FBX32 GENE; GENE; GENE ACTIVATION; GENE MUTATION; GENETIC DISORDER; HETEROZYGOSITY; HUMAN; MODEL; MUSCLE ATROPHY; MYOPATHY; NONHUMAN; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN DEFECT;

ALPHA-CRYSTALLIN B CHAIN; AMINO ACID SEQUENCE; ANIMALS; DESMIN; HUMANS; MACROMOLECULAR SUBSTANCES; MICE; MICE, KNOCKOUT; MUSCLE FIBERS; MYOPATHIES, STRUCTURAL, CONGENITAL; POINT MUTATION;

EID: 0037871478     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/mus.10400     Document Type: Editorial

References (16)

1. Balogh J, Merisckay M, Li Z, Paulin D, Arner A. Hearts from mice lacking desmin have a myopathy with impaired active force generation and unaltered wall compliance. Cardiovasc Res 2002;53:439-450.
2. Bodine SC, Latres E, Baumhueter S, Lai VK, Nunez L, Clarke BA, Poueymirou WT, Panaro FJ, Na E, Dharmarajan K, Pan ZQ, Valenzuela DM, DeChiara TM, Stitt TN, Yancopoulos GD, Glass DJ. Identification of ubiquitin ligases required for skeletal muscle atrophy. Science 2001;294:1704-1708.
3. Bova MP, Yaron O, Huang Q, Ding L, Haley DA, Stewart PL, Horwitz J. Mutation R120G in alphaB-crystallin, which is linked to a desmin-related myopathy, results in an irregular structure and defective chaperone-like function. Proc Natl Acad Sci USA 1999;96:6137-6142.
4. Carlsson L, Thornell LE. Desmin-related myopathies in mice and man. Acta Physiol Scand 2001;171:341-348.
5. Carlsson L, Li ZL, Paulin D, Price MG, Breckler J, Robson RM, Wiche G, Thornell LE. Differences in the distribution of synemin, paranemin, and plectin in skeletal muscles of wild-type and desmin knock-out mice. Histochem Cell Biol 2000;114:39-47.
6. Dagvadorj A, Goudeau B, Hilton-Jones D, Blancato JK, Shatunov A, Simon-Casteras M, Squier W, Nagle JW, Goldfarb LG, Vicart P. Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin C-terminal α-helical segment. Muscle Nerve 2003;27:669-675.
7. Den Engelsman JP, Keijsers V, DeJong WW, Boelens WC. The small heat-shock protein aB-crystallin promotes FBX4-dependent ubiquitination. J Biol Chem 2003;278:4699-4704.
8. Fitts RH, Riley DR, Widrick JJ. Functional and structural adaptations of skeletal muscle to microgravity. J Exp Biol 2001;204:3201-3208.
9. Goldfarb LG, Park KY, Cervenakova L, Gorokhova S, Lee HS, Vasconcelos O, Nagle JW, Semino-Mora C, Sivakumar K, Dalakas MC. Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Nat Genet 1998;19:402-403.
10. Gomes MD, Lecker SH, Jagoe RT, Navon A, Goldberg AL. Atrogin-1, a muscle-specific F-box protein highly expressed during muscle atrophy. Proc Natl Acad Sci USA 2001;98:14440-14445.
11. Li M, Dalakas MC. Abnormal desmin protein in myofibrillar myopathies caused by desmin gene mutations. Ann Neurol 2001;49:532-536.
12. Milner DJ, Weitzer G, Tran D, Bradley A, Capetanaki Y. Disruption of muscle architecture and myocardial degeneration in mice lacking desmin. J Cell Biol 1996;134:1255-1270.
13. Perng MD, Muchowski PJ, van Den IJssel P, Wu GJ, Hutcheson AM, Clark JI, Quinlan RA. The cardiomyopathy and lens cataract mutation in alphaB-crystallin alters its protein structure, chaperone activity, and interaction with intermediate filaments in vitro. J Biol Chem 1999;274:33235-33243.
14. Sugawara M, Kato K, Komatsu M, Wada C, Kawamura K, Shindo PS, Yoshioka PN, Tanaka K, Watanabe S, Toyoshima I. A novel de novo mutation in the desmin gene causes desmin myopathy with toxic aggregates. Neurology 2000;55:986-990.
15. Vicart P, Caron A, Guicheney P, Li Z, Prevost MC, Faure A, Chateau D, Chapon F, Tome F, Dupret JM, Paulin D, Fardeau M. A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. Nat Genet 1998;20:92-95.
16. Wang X, Osinska H, Dorn GW II, Nieman M, Lorenz JN, Gerdes AM, Witt S, Kimball T, Gulick J, Robbins J. Mouse model of desmin-related cardiomyopathy. Circulation 2001;103:2402-2407.