Presenilin mutations line up along transmembrane alpha-helices.

Abstract:

:Presenilin 1 mutations are the major cause of autosomal dominant Alzheimer's disease. Here we present evidence that pathogenic mutations in putative transmembrane domains 1, 2, 3, 4 and 6 align along helical faces, thus supporting the view that these are indeed transmembrane domains, and suggesting that disruption of the alignment of these domains is responsible for the pathogenicity of the mutations.

journal_name

Neurosci Lett

journal_title

Neuroscience letters

authors

Hardy J,Crook R

doi

10.1016/s0304-3940(01)01910-3

keywords:

subject

Has Abstract

pub_date

2001-06-29 00:00:00

pages

203-5

issue

3

eissn

0304-3940

issn

1872-7972

pii

S0304394001019103

journal_volume

306

pub_type

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