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Titolo:
Sarcolemmopathy: Muscular dystrophies with cell membrane defects
Autore:
Ozawa, E; Nishino, I; Nonaka, I;
Indirizzi:
Natl Inst Neurosci, NCNP, Tokyo 1878502, Japan Natl Inst Neurosci Tokyo Japan 1878502 rosci, NCNP, Tokyo 1878502, Japan
Titolo Testata:
BRAIN PATHOLOGY
fascicolo: 2, volume: 11, anno: 2001,
pagine: 218 - 230
SICI:
1015-6305(200104)11:2<218:SMDWCM>2.0.ZU;2-1
Fonte:
ISI
Lingua:
ENG
Soggetto:
NITRIC-OXIDE SYNTHASE; SKELETAL-MUSCLE FIBERS; SARCOGLYCAN COMPLEX; BETHLEM MYOPATHY; SURFACE-MEMBRANE; BETA-SARCOGLYCAN; MIYOSHI MYOPATHY; POINT MUTATIONS; DEFICIENT MICE; DMD CDNA;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
69
Recensione:
Indirizzi per estratti:
Indirizzo: Ozawa, E Natl Inst Neurosci, NCNP, 4-1-1 Ogawashigashi Cho, Tokyo 1878502,Japan Natl Inst Neurosci 4-1-1 Ogawashigashi Cho Tokyo Japan 1878502 n
Citazione:
E. Ozawa et al., "Sarcolemmopathy: Muscular dystrophies with cell membrane defects", BRAIN PATH, 11(2), 2001, pp. 218-230

Abstract

In this article, we review the molecular pathology of muscular dystrophiescaused by defects of proteins located within or near cell membranes. Thesedisorders include Bethlem myopathy, merosinopathy, dystrophinopathy, sarcoglycanopathies, integrinopathy, dysferlinopathy and caveolinopathy. We refer to these diseases collectively as sarcolemmopathy. Here, we describe the biological functions of these proteins in the context of muscular contractions and their roles in the infrastructure of muscle; defects of muscle infrastructures cause those diseases. As an example, in dystrophinopathy, cell membranes have mechanical defectsdue to the absence of dystrophin. Cracks of the cell membrane induced by muscle contraction may allow the influx and efflux of substances that trigger muscle cell degeneration. However, such cracks may be resealed on relaxation. In addition, dystrophinopathy causes secondary defects of various dystrophin-associated proteins suggesting that defects in cell signaling participate in the pathologic process, With regard to other sarcolemmopathies, wediscuss pathological mechanisms based on available data.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 21/01/20 alle ore 07:07:47