Function and dysfunction of the presenilins

SS Sisodia, SH Kim, G Thinakaran - The American Journal of Human …, 1999 - cell.com
Alzheimer disease (AD), a progressive neurodegenerative disorder, is the most common
type of dementia, occurring in mid to late life. The neuropathological hallmarks of this …

Monogenic determinants of familial Alzheimer's disease: presenilin-2 mutations

P Renbaum, E Levy-Lahad - Cellular and Molecular Life Sciences CMLS, 1998 - Springer
Presenilin-2 (PS2) is one of three genes [amyloid precursor protein (APP), presenilin-1
(PS1) and PS2] shown to cause familial Alzheimer's disease (FAD), and is highly …

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 …

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 …

Clinical, pathological, and biochemical spectrum of Alzheimer disease associated with PS-1 mutations

A Lleó, O Berezovska, JH Growdon… - The American journal of …, 2004 - Elsevier
Three genes have been implicated in the etiology of early-onset autosomal-dominant
Alzheimer disease (AD): the amyloid precursor protein, the presenilin-1, and presenilin-2 …

Monogenic determinants of familial Alzheimer's disease: presenilin-1 mutations

DM Kovacs, RE Tanzi - Cellular and Molecular Life Sciences CMLS, 1998 - Springer
Presenilin-1 (PS1) mutations account for the greatest portion of early onset familial
Alzheimer's disease (FAD) cases. The exact cellular function of PS1 is not known. To date …

Expression and analysis of presenilin 1 in a human neuronal system: localization in cell bodies and dendrites.

DG Cook, JC Sung, TE Golde… - Proceedings of the …, 1996 - National Acad Sciences
Mutations in the recently identified presenilin 1 gene on chromosome 14 cause early onset
familial Alzheimer disease (FAD). Herein we describe the expression and analysis of the …

The genetics and molecular pathology of Alzheimer's disease: roles of amyloid and the presenilins

DJ Selkoe - Neurologic clinics, 2000 - neurologic.theclinics.com
Few experiences in the work of a neurologic diagnostician are more disquieting than
informing both patient and family that the diagnosis is Alzheimer's disease (AD). Yet, with the …

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 …

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 …