Presenilins and Alzheimer's disease

TW Kim, RE Tanzi - Current opinion in neurobiology, 1997 - Elsevier
Mutations in the genes encoding the presenilins cause the majority of early-onset cases of
Alzheimer's disease (AD). The identification of the presenilin genes has provided new …

Presenilins and early-onset familial Alzheimer's disease.

HA Rohan de Silva, AJ Patel - Neuroreport, 1997 - europepmc.org
Thirty-seven missense mutations and a splice-site mutation in the presenilin gene PS1 on
chromosome 14 and two missense mutations PS2 on chromosome 1 co-segregate with …

Biology of presenilins as causative molecules for Alzheimer disease

M Nishimura, G Yu, PH St George‐Hyslop - Clinical genetics, 1999 - Wiley Online Library
Many missense mutations in the presenilins are associated with autosomal dominant forms
of familial Alzheimer disease (AD). Presenilin genes encode polytopic transmembrane …

Presenilin-1 mutations in Alzheimer's disease: an update on genotype-phenotype relationships

AJ Larner - Journal of Alzheimer's Disease, 2013 - content.iospress.com
Abstract Presenilin 1 (PSEN1) gene mutations deterministic for Alzheimer's disease (AD) are
associated with marked heterogeneity in clinical phenotype, with behavioral and psychiatric …

Presenile because of presenilin: the presenilin genes and early onset Alzheimer's disease

C Haass - Current opinion in Neurology, 1996 - journals.lww.com
Alzheimer's disease is a neurodegenerative disorder characterized by the massive and
invariant accumulation of amyloid plaques in the brains of affected patients. In many cases …

The presenilin hypothesis of Alzheimer's disease: evidence for a loss-of-function pathogenic mechanism

J Shen, RJ Kelleher III - Proceedings of the National …, 2007 - National Acad Sciences
Dominantly inherited mutations in the genes encoding presenilins (PS) and the amyloid
precursor protein (APP) are the major causes of familial Alzheimer's disease (AD). The …

Unraveling the molecular pathway of Alzheimer's disease: research about presenilins gathers momentum.

R Sandbrink, K Beyreuther - Molecular Psychiatry, 1996 - europepmc.org
Missense mutations of the presenilins (PS1 and PS2) first identified about one year ago are
responsible for the majority of autosomal dominant familial Alzheimer's disease cases …

Presenilins: multifunctional proteins involved in Alzheimer's disease pathology

F Checler - IUBMB life, 1999 - Wiley Online Library
Early‐onset aggressive forms of Alzheimer's disease (AD) are of genetic nature and have
been linked to inherited mutations located on chromosomes 21, 14, and 1. The gene …

[HTML][HTML] Presenilin structure, function and role in Alzheimer disease

PE Fraser, DS Yang, G Yu, L Lévesque… - … et Biophysica Acta (BBA …, 2000 - Elsevier
Numerous missense mutations in the presenilins are associated with the autosomal
dominant form of familial Alzheimer disease. Presenilin genes encode polytopic …

Presenilins and Alzheimer's disease: biological functions and pathogenic mechanisms

C Czech, G Tremp, L Pradier - Progress in neurobiology, 2000 - Elsevier
Alzheimer's disease (AD) is the most common cause of dementia in the elderly population.
Dementia is associated with massive accumulation of fibrillary aggregates in various cortical …