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Titolo:
Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy
Autore:
Herrmann, R; Straub, V; Blank, M; Kutzick, C; Franke, N; Jacob, EN; Lenard, HG; Kroger, S; Voit, T;
Indirizzi:
Univ Essen Gesamthsch, Dept Pediat & Pediat Neurol, D-45122 Essen, GermanyUniv Essen Gesamthsch Essen Germany D-45122 urol, D-45122 Essen, Germany Max Planck Inst Brain Res, Dept Neuroanat, D-60528 Frankfurt, Germany Max Planck Inst Brain Res Frankfurt Germany D-60528 8 Frankfurt, Germany Univ Dusseldorf, Dept Neuropathol, D-40225 Dusseldorf, Germany Univ Dusseldorf Dusseldorf Germany D-40225 , D-40225 Dusseldorf, Germany Univ Dusseldorf, Dept Pediat, D-40225 Dusseldorf, Germany Univ DusseldorfDusseldorf Germany D-40225 , D-40225 Dusseldorf, Germany
Titolo Testata:
HUMAN MOLECULAR GENETICS
fascicolo: 15, volume: 9, anno: 2000,
pagine: 2335 - 2340
SICI:
0964-6906(20000922)9:15<2335:DOTDCI>2.0.ZU;2-Q
Fonte:
ISI
Lingua:
ENG
Soggetto:
NITRIC-OXIDE SYNTHASE; MOUSE SKELETAL-MUSCLE; GLYCOPROTEIN COMPLEX; MOLECULAR-CLONING; CARDIAC MYOCYTES; IN-VIVO; CAVEOLIN; PROTEINS; DEFICIENT; CELLS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
47
Recensione:
Indirizzi per estratti:
Indirizzo: Straub, V Univ Essen Gesamthsch, Dept Pediat & Pediat Neurol, Hufelandstr 55, D-45122 Essen, Germany Univ Essen Gesamthsch Hufelandstr 55 Essen Germany D-45122 many
Citazione:
R. Herrmann et al., "Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy", HUM MOL GEN, 9(15), 2000, pp. 2335-2340

Abstract

Limb girdle muscular dystrophy is a group of clinically and genetically heterogeneous disorders inherited in an autosomal recessive or dominant mode. Caveolin-3, the muscle-specific member of the caveolin gene family, is implicated in the pathogenesis of autosomal dominant limb girdle muscular dystrophy 1C. Here we report on a 4-year-old girl presenting with myalgia and muscle cramps clue to a caveolin-3 deficiency in her dystrophic skeletal muscle as a result of a heterozygous 136G-->A substitution in the caveolin-3 gene. The novel sporadic missense mutation in the caveolin signature sequence ofthe caveolin-3 gene changes an alanine to a threonine (A46T) and prevents the localization of caveolin-3 to the plasma membrane in a dominant negative fashion. Caveolin-3 has been suggested to interact with the dystrophin-glycoprotein complex, which in striated muscle fibers links the cytoskeleton to the extracellular matrix and with neuronal nitric oxide synthase. Similar to dystrophin-deficient Duchenne muscular dystrophy, a secondary decreasein neuronal nitric oxide synthase and alpha-dystroglycan expression was detected in the caveolin-3-deficient patient. These results implicate an important function of the caveolin signature sequence and common mechanisms in the pathogenesis of dystrophin-glycoprotein complex associated muscular dystrophies with caveolin-3-deficient limb girdle muscular dystrophy.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/09/20 alle ore 05:42:05