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Titolo:
Nuclear envelope proteins acid associated diseases
Autore:
Nagano, A; Arahata, K;
Indirizzi:
Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Neuromuscular Res, Tokyo 1878502, Japan Natl Ctr Neurol & Psychiat Tokyo Japan 1878502 Res, Tokyo 1878502, Japan Tokyo Med Univ, Dept Internal Med 3, Tokyo, Japan Tokyo Med Univ Tokyo Japan Med Univ, Dept Internal Med 3, Tokyo, Japan
Titolo Testata:
CURRENT OPINION IN NEUROLOGY
fascicolo: 5, volume: 13, anno: 2000,
pagine: 533 - 539
SICI:
1350-7540(200010)13:5<533:NEPAAD>2.0.ZU;2-Y
Fonte:
ISI
Lingua:
ENG
Soggetto:
DREIFUSS-MUSCULAR-DYSTROPHY; FAMILIAL PARTIAL LIPODYSTROPHY; INTEGRAL MEMBRANE-PROTEINS; CAUSE AUTOSOMAL-DOMINANT; ENCODING LAMIN A/C; DUNNIGAN VARIETY; DILATED CARDIOMYOPATHY; MISSENSE MUTATIONS; R482Q MUTATION; INNER MEMBRANE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
64
Recensione:
Indirizzi per estratti:
Indirizzo: Arahata, K Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Neuromuscular Res, 4-1-1 Ogawa-higashi, Tokyo 1878502, Japan Natl Ctr Neurol & Psychiat 4-1-1 Ogawa-higashi Tokyo Japan 1878502
Citazione:
A. Nagano e K. Arahata, "Nuclear envelope proteins acid associated diseases", CURR OP NEU, 13(5), 2000, pp. 533-539

Abstract

There is a growing body of evidence in favour of the presence of human diseases caused by mutations in genes that encode the nuclear envelope proteins emerin and lamin A/C (lamin A and C are alternatively spliced variants ofthe same gene). Emerin deficiency results in X-linked Emery-Dreifuss muscular dystrophy (EDMD). Lamin A/C mutations cause the autosomal-dominant formof EDMD, limb-girdle muscular dystrophy with atrioventricular conduction disturbances (type 1B), hypertrophic cardiomyopathy and Dunnigan-type familial partial lipodystrophy. In the targeted mouse model of lamin A gene deficiency, loss of lamin A/C is associated with mislocalization of emerin, Thus, one plausible pathomechanism for EDMD, limb-girdle muscular dystrophy type 1B, hypertrophic cardiomyopathy and familial partial lipodystrophy is thepresence of specific abnormalities of the nuclear envelope. Therefore, a group of markedly heterogeneous disorders can be classified as 'nuclear envelopathies'. The present review summarizes recent findings on nuclear envelope proteins and diseases. Curr Opin Neurol 13:533-539. (C) 2000 Lippincott Williams & Wilkins.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 13/07/20 alle ore 07:02:49