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Titolo:
Presenilins and the intramembrane proteolysis of proteins: facts and fiction
Autore:
De Strooper, B; Annaert, W;
Indirizzi:
Katholieke Univ Leuven, Ctr Human Genet, Neuronal Cell Biol Lab, B-3000 Louvain, Belgium Katholieke Univ Leuven Louvain Belgium B-3000 b, B-3000 Louvain, Belgium Flanders Interuniv Inst Biotechnol, B-3000 Louvain, Belgium Flanders Interuniv Inst Biotechnol Louvain Belgium B-3000 uvain, Belgium
Titolo Testata:
NATURE CELL BIOLOGY
fascicolo: 10, volume: 3, anno: 2001,
pagine: E221 - E225
SICI:
1465-7392(200110)3:10<E221:PATIPO>2.0.ZU;2-0
Fonte:
ISI
Lingua:
ENG
Soggetto:
AMYLOID PRECURSOR PROTEIN; FAMILIAL ALZHEIMERS-DISEASE; GAMMA-SECRETASE ACTIVITY; CAPACITATIVE CALCIUM-ENTRY; DISINTEGRIN-METALLOPROTEASE; SIGNAL-TRANSDUCTION; MISSENSE MUTATIONS; BETA-APP; IN-VIVO; CLEAVAGE;
Tipo documento:
Editorial Material
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
82
Recensione:
Indirizzi per estratti:
Indirizzo: De Strooper, B Katholieke Univ Leuven, Ctr Human Genet, Neuronal Cell BiolLab, Herestr 49, B-3000 Louvain, Belgium Katholieke Univ Leuven Herestr 49Louvain Belgium B-3000 m
Citazione:
B. De Strooper e W. Annaert, "Presenilins and the intramembrane proteolysis of proteins: facts and fiction", NAT CELL BI, 3(10), 2001, pp. E221-E225

Abstract

Missense mutations in the genes coding for presenilin 1 and presenilin 2 cause familial Alzheimer's disease - a progressive neurodegenerative disorder of the central nervous system. Loss-of-function mutations of these genes in Drosophila, Caenorhabditis elegans and mice cause severe lethal phenotypes, which implicates the presenilins genetically in the Notch signalling pathway. The hypothesis that presenilins are aspartyl proteases that cleave the amyloid precursor protein and Notch can explain the phenotypes. Direct evidence for this hypothesis is, however, difficult to obtain. Moreover, presenilin 1 is a multifunctional protein, as exemplified by its role in the Wnt/ beta -catenin signalling pathway.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/01/20 alle ore 16:55:01