Results 171 to 180 of about 26,399 (217)

Structure and alternative splicing of the Presenilin-2 gene

NeuroReport, 1996
Missense mutations in the presenilin-1 (PS-1) and presenilin-2 (PS-2) genes have been shown to be causes of autosomal dominant Alzheimer's disease (the AD3 and AD4 loci, respectively). Alternative splicing has previously been reported in the PS-1 gene.
G, Prihar, R A, Fuldner, J, Perez-Tur, S, Lincoln, K, Duff, R, Crook, J, Hardy, C A, Philips, C, Venter, C, Talbot, R F, Clark, A, Goate, J, Li, H, Potter, E, Karran, G W, Roberts, M, Hutton, M D, Adams   +17 more
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Mutant presenilin 2 increases acetylcholinesterase activity in neuronal cells

Archives of Pharmacal Research, 2005
A presenilin 2 mutation is believed to be involved in the development of Alzheimer's disease. In addition, transgenic mice with a presenilin 2 mutation have been reported to have learning and memory impairments. In this study, exposing PC12 cells expressing mutant presenilin 2 to 50 microM AP25-35, 30 mM L-glutamate and 50 microM H2O2 caused a ...
Hong Nga, Nguyen, Dae Youn, Hwang, Young Kyu, Kim, Do Young, Yoon, Jae Hwa, Kim, Moon Soon, Lee, Myung Koo, Lee, Yeo Pyo, Yun, Ki Wan, Oh, Jin Tae, Hong   +9 more
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Cloning and characterization of the presenilin-2 gene promoter

Molecular Brain Research, 1998
Mutations in the presenilin-2 (PS-2) have been shown to cause early onset Alzheimer's disease (AD) in a series of families known as the Volga Germans and in an unrelated Italian kindred. Expression of the PS-2 gene is regulated during AD, aging, development and brain injury.
K R, Pennypacker, R, Fuldner, R, Xu, H, Hernandez, D, Dawbarn, N, Mehta, J, Perez-Tur, M, Baker, M, Hutton   +8 more
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Monogenic determinants of familial Alzheimer's disease: presenilin-2 mutations

Cellular and Molecular Life Sciences CMLS, 1998
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 homologous to PS1. Currently demonstrated functions of PS2 include interactions with APP and A beta, and participation in apoptotic pathways.
P, Renbaum, E, Levy-Lahad
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Presenilin 2 — APP Interactions

1998
Alzheimer’s disease (AD) is a progressive neurodegenerative disorder of the central nervous system which is invariably associated with and defined by the presence of intracellular neurofibrillary tangles (NFT) and extracellular deposits of amyloid (Aβ senile plaques) in the brain and cerebral blood vessels.
W. Wasco, R. E. Tanzi, R. D. Moir, A. C. Crowley, D. E. Merriam, D. M. Romano, P. D. Jondro, B. A. Kellerman   +7 more
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Subcellular localization of presenilin 2 endoproteolytic C-terminal fragments

Molecular Brain Research, 2001
Mutations in the genes that encode the presenilin 1 and 2 (PS1 and PS2) proteins cause the majority of familial Alzheimer's disease (FAD). Differential cleavage of the presenilins results in a generation of at least two C-terminal fragments (CTFs).
T L, Tekirian, D E, Merriam, V, Marshansky, J, Miller, A C, Crowley, H, Chan, D, Ausiello, D, Brown, J D, Buxbaum, W, Xia, W, Wasco   +10 more
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The Circadian Regulation ofPresenilin‐2Gene Expression

Chronobiology International, 2006
Circadian rhythms are generated by a molecular clock composed of clock genes and their protein products. Other genes are regulated in a rhythmic way by this molecular clockwork, but are not themselves constituents of the clock. This study shows that one of these clock-controlled genes encodes the signalling protein Presenilin-2.
Valérie, Bélanger, Nathalie, Picard, Nicolas, Cermakian   +2 more
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Does the presenilin 2 gene predispose to schizophrenia?

Schizophrenia Research, 2009
Presenilins are a group of proteins playing an important role in the Notch, ErbB4 and Wnt signaling pathways possibly associated with schizophrenia. The gene coding for presenilin 2 (PSEN2) is located on 1q42 and adjacent to a balanced translocation t (1; 11) (q42; q14.3) that was found to co-segregate within family members of patients with ...
Juan, Zhang, Jun, Chen, Qi, Xu, Yan, Shen   +3 more
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Presenilin-2 mutation and polymorphism in Japanese Alzheimer disease patients

Clinica Chimica Acta, 1999
The Asn141Ile mutation of the presenilin 2 gene is responsible for familial early-onset Alzheimer disease found in Volga-German kindreds. However, the genetic influence of presenilin 2 gene on sporadic Alzheimer disease remains unknown. In this study, the frequency of the mutation and genetic association with the presenilin 2 locus were investigated in
H, Tanimukai, I, Tsujio, R, Hashimoto, T, Kudo, K, Kamino, K, Shinozaki, M, Takeda   +6 more
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Calcium binding sequences in calmyrin regulates interaction with presenilin-2

Experimental Cell Research, 2004
Calmyrin is a myristoylated calcium binding protein that contains four putative EF-hands. Calmyrin interacts with a number of proteins, including presenilin-2 (PS2). However, the biophysical properties of calmyrin, and the molecular mechanisms that regulate its binding to different partners, are not well understood. By site-directed mutagenesis and Ca2+
Jingsong, Zhu, Stacy M, Stabler, James B, Ames, Ilia, Baskakov, Mervyn J, Monteiro   +4 more
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