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Titolo:
Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease
Autore:
Brenner, M; Johnson, AB; Boespflug-Tanguy, O; Rodriguez, D; Goldman, JE; Messing, A;
Indirizzi:
Univ Wisconsin, Dept Pathobiol Sci, Waisman Ctr, Madison, WI USA Univ Wisconsin Madison WI USA athobiol Sci, Waisman Ctr, Madison, WI USA Univ Wisconsin, Sch Vet Med, Waisman Ctr, Madison, WI USA Univ Wisconsin Madison WI USA Sch Vet Med, Waisman Ctr, Madison, WI USA Univ Alabama, Dept Neurobiol, Birmingham, AL USA Univ Alabama Birmingham AL USA abama, Dept Neurobiol, Birmingham, AL USA Univ Alabama, Dept Phys Med & Rehabil, Birmingham, AL USA Univ Alabama Birmingham AL USA pt Phys Med & Rehabil, Birmingham, AL USA Albert Einstein Coll Med, Dept Pathol, Bronx, NY 10467 USA Albert EinsteinColl Med Bronx NY USA 10467 t Pathol, Bronx, NY 10467 USA Albert Einstein Coll Med, Dept Neurosci, Bronx, NY 10467 USA Albert Einstein Coll Med Bronx NY USA 10467 Neurosci, Bronx, NY 10467 USA Fac Med, INSERM U384, Clermont Ferrand, France Fac Med Clermont Ferrand France , INSERM U384, Clermont Ferrand, France Hop St Vincent de Paul, Serv neuropediat, AP HP, F-75674 Paris, France HopSt Vincent de Paul Paris France F-75674 AP HP, F-75674 Paris, France Columbia Univ Coll Phys & Surg, Dept Pathol, New York, NY 10032 USA Columbia Univ Coll Phys & Surg New York NY USA 10032 w York, NY 10032 USA Columbia Univ Coll Phys & Surg, Ctr Neurobiol & Behav, New York, NY 10032 USA Columbia Univ Coll Phys & Surg New York NY USA 10032 w York, NY 10032 USA
Titolo Testata:
NATURE GENETICS
fascicolo: 1, volume: 27, anno: 2001,
pagine: 117 - 120
SICI:
1061-4036(200101)27:1<117:MIGEGF>2.0.ZU;2-M
Fonte:
ISI
Lingua:
ENG
Soggetto:
ALPHA-B-CRYSTALLIN; INTERMEDIATE FILAMENTS; PALATAL MYOCLONUS; TRANSGENIC MICE; WHITE-MATTER; GENE; MYOPATHY; DEVELOP; ATAXIA; BRAIN;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
30
Recensione:
Indirizzi per estratti:
Indirizzo: Messing, A Univ Wisconsin, Dept Pathobiol Sci, Waisman Ctr, Madison, WI USA Univ Wisconsin Madison WI USA i, Waisman Ctr, Madison, WI USA
Citazione:
M. Brenner et al., "Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease", NAT GENET, 27(1), 2001, pp. 117-120

Abstract

Alexander disease is a rare disorder of the central nervous system of unknown etiology(1,2). Infants with Alexander disease develop a leukoencephalopathy with macrocephaly, seizures and psychomotor retardation, leading to death usually within the first decade; patients with juvenile or adult forms typically experience ataxia, bulbar signs and spasticity, and a more slowlyprogressive course. The pathological hallmark of all forms of Alexander disease is the presence of Rosenthal fibers, cytoplasmic inclusions in astrocytes that contain the intermediate filament protein GFAP in association with small heat-shock proteins(3,4). We previously found that overexpression of human GFAP in astrocytes of transgenic mice is fatal and accompanied by the presence of inclusion bodies indistinguishable from human Rosenthal fibers(5). These results suggested that a primary alteration in GFAP may be responsible for Alexander disease. Sequence analysis of DNA samples from patients representing different Alexander disease phenotypes revealed that most cases are associated with non-conservative mutations in the coding region of GFAP. Alexander disease therefore represents the first example of a primary genetic disorder of astrocytes, one of the major cell types in the vertebrate CNS.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 02/07/20 alle ore 18:45:43