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Titolo:
Genetic inroads in familial ALS
Autore:
Shaw, PJ;
Indirizzi:
Univ Sheffield, Sch Med, Acad Neurol Unit, Sheffield S10 2TN, S Yorkshire,England Univ Sheffield Sheffield S Yorkshire England S10 2TN S Yorkshire,England
Titolo Testata:
NATURE GENETICS
fascicolo: 2, volume: 29, anno: 2001,
pagine: 103 - 104
SICI:
1061-4036(200110)29:2<103:GIIFA>2.0.ZU;2-E
Fonte:
ISI
Lingua:
ENG
Soggetto:
AMYOTROPHIC-LATERAL-SCLEROSIS; CU/ZN SUPEROXIDE-DISMUTASE; MOTOR-NEURON DISEASE;
Tipo documento:
Editorial Material
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
14
Recensione:
Indirizzi per estratti:
Indirizzo: Shaw, PJ Univ Sheffield, Sch Med, Acad Neurol Unit, Sheffield S10 2TN, S Yorkshire,England Univ Sheffield Sheffield S Yorkshire England S10 2TN ire,England
Citazione:
P.J. Shaw, "Genetic inroads in familial ALS", NAT GENET, 29(2), 2001, pp. 103-104

Abstract

Amyotrophic lateral sclerosis (ALS) is a common neurodegenerative disease causing cell death of motor neurons and progressive muscle weakness. The disease is familial in ten percent of cases, of which one-fifth are due to mutations in the gene encoding Cu/Zn superoxide dismutase (SOD1). Two papers in this issue of Nature Genetics describe homozygous mutations in a new gene on chromosome 2q33 in 4 families of Arabian origin with a rare form of juvenile onset ALS (ALS2). The predicted protein structure has domains homologous to GTPase regulatory proteins, and both the types of mutation and the pattern of inheritance suggest that motor neuron degeneration is the resultof a loss of function. Further work will determine the relevance of this breakthrough to other, more common forms of ALS.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/04/20 alle ore 02:20:35