A presenilin 1 mutation associated with familial frontotemporal dementia inhibits gamma-secretase cleavage of APP and notch.
Neurobiol Dis
; 9(2): 269-73, 2002 Mar.
Article
em En
| MEDLINE
| ID: mdl-11895378
ABSTRACT
A novel presenilin 1 mutation, insR352, associated with a frontal temporal dementia phenotype has been identified (E. A. Rogaeva et al., 2001, Neurology 57, 621-625). This mutation does not increase Abeta42 levels, but instead acts as dominant negative presenilin, decreasing amyloid beta protein (Abeta) production by inhibiting gamma-secretase cleavage of the Abeta precursor. The distinct clinical phenotype associated with this mutation suggests that chronic partial inhibition of gamma-secretase activity may result in neurodegeneration.
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Base de dados:
MEDLINE
Assunto principal:
Endopeptidases
/
Precursor de Proteína beta-Amiloide
/
Demência
/
Proteínas de Membrana
Idioma:
En
Ano de publicação:
2002
Tipo de documento:
Article