Presenilin transgenic mice as models of Alzheimer's disease

GA Elder, MA Gama Sosa, R De Gasperi… - Brain Structure and …, 2010 - Springer
Abstract Mutations in presenilin-1 (PS1) and presenilin-2 (PS2) cause familial Alzheimer's
disease (FAD). Presenilins influence multiple molecular pathways and are best known for …

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 …

Overexpression of wild type but not an FAD mutant presenilin-1 promotes neurogenesis in the hippocampus of adult mice

PH Wen, X Shao, Z Shao, PR Hof, T Wisniewski… - Neurobiology of …, 2002 - Elsevier
Mutations in the presenilin-1 (PS-1) gene are one cause of familial Alzheimer's disease
(FAD). However, the functions of the PS-1 protein as well as how PS-1 mutations cause FAD …

[HTML][HTML] Mutant human presenilin 1 protects presenilin 1 null mouse against embryonic lethality and elevates Aβ1–42/43 expression

S Qian, P Jiang, XM Guan, G Singh, ME Trumbauer… - Neuron, 1998 - cell.com
Abstract Mutations in presenilin 1 (PS1) are linked to early onset of familial Alzheimer's
disease (FAD) and are shown to foster production of Aβ1–42/43 in FAD patients and …

In situ hybridization analysis of presenilin 1 mRNA in Alzheimer disease and in lesioned rat brain

K Page, R Hollister, RE Tanzi… - Proceedings of the …, 1996 - National Acad Sciences
Presenilin-1 (PS-1) gene mutations are responsible for the majority of the early onset familial
forms of Alzheimer disease (AD). Neither PS-1's anatomic distribution in brain nor …

[HTML][HTML] Familial Alzheimer's disease–linked presenilin 1 variants elevate Aβ1–42/1–40 ratio in vitro and in vivo

DR Borchelt, G Thinakaran, CB Eckman, MK Lee… - Neuron, 1996 - cell.com
Mutations in the presenilin 1 (PS1) and presenilin 2 genes cosegregate with the majority of
early-onset familial Alzheimer's disease (FAD) pedigrees. We now document that the Aβ1 …

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 …

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 …

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 …

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 …