Mutation of the gene for the human lysosomal serine protease cathepsin G is not the cause of aberrant APP processing in familial Alzheimer disease.
Neurosci Lett
; 152(1-2): 96-8, 1993 Apr 02.
Article
em En
| MEDLINE
| ID: mdl-8515885
ABSTRACT
Recent genetic linkage studies have implicated a gene on chromosome 14 in the pathogenesis of FAD. The identity of this gene remains unknown but it has been speculated that it may be involved in the cellular processing of the amyloid precursor protein (APP). We have analyzed the nucleotide sequence of the entire open reading frame of the cathepsin G gene located on chromosome 14q. No mutations were observed, suggesting that defects in this lysosomal protease are not responsible for aberrant accumulation of proteolytic products of APP in FAD brain tissue.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Catepsinas
/
Processamento de Proteína Pós-Traducional
/
Precursor de Proteína beta-Amiloide
/
Doença de Alzheimer
Limite:
Humans
Idioma:
En
Revista:
Neurosci Lett
Ano de publicação:
1993
Tipo de documento:
Article
País de afiliação:
Canadá