Proteolytic processing of presenilin-1 in human lymphoblasts is not affected by the presence of the I143T and G384A mutations.

Abstract:

:Presenilin-1 (PSEN1) mutations I143T and G384A give rise to severe early onset Alzheimers's disease in two extensively studied Belgian families, AD/A and AD/B. In this study we investigated the influence of the I143T and G384A mutations on PSEN1 proteolytic processing. Hereto we analyzed PSEN1 processing in lymphoblasts by immunodetection with PSEN1-specific antibodies and densitometric analysis of the immunoreactive banding pattern. No differences were observed between presymptomatic mutation carriers, patients or escapees, demonstrating that the PSEN1 mutations I143T and G384A do not alter PSEN1 proteolytic processing in lymphoblasts.

journal_name

Neurosci Lett

journal_title

Neuroscience letters

authors

Vanderhoeven I,Cras P,Martin JJ,Van Broeckhoven C,De Jonghe C

doi

10.1016/s0304-3940(99)00722-3

keywords:

subject

Has Abstract

pub_date

1999-10-29 00:00:00

pages

183-6

issue

3

eissn

0304-3940

issn

1872-7972

pii

S0304394099007223

journal_volume

274

pub_type

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