Results 1 to 10 of about 21,794 (134)

Atypical dementia associated with a novel presenilin‐2 mutation

Annals of Neurology, 2003
Abstract We describe an Italian pedigree with hereditary dementia associated with a novel T122R mutation in the presenilin‐2 gene (PSEN2) . The clinical history, symptom presentation, and structural neuroimaging were consistent with an atypical form of dementia.
BINETTI G, SIGNORINI S, SQUITTI R, ALBERICI A, BENUSSI L, CASSETTA E, FRISONI GB, BARBIERO L, FEUDATARI E, NICOSIA F, TESTA C, ZANETTI O, GENNARELLI, Massimo, PERANI D, ANCHISI D, GHIDONI R, ROSSINI P.M.   +16 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
openaire   +2 more sources

Localisation of presenilin 2 in human and rodent pancreatic islet β-cells; Met239Val presenilin 2 variant is not associated with diabetes in man

Journal of Cell Science, 1999
ABSTRACT Mutations in presenilin 1 and 2 are causative factors for early onset familial Alzheimer’s disease and possible roles for presenilins include protein trafficking, regulation of apoptosis and/or calcium homeostasis. Presenilin 2 mRNA is expressed in brain, muscle and pancreas but the role of pancreatic presenilin 2 and its ...
JAIKARAN ET, MARCON, Gabriella, LEVESQUE L, GEORGE HYSLOP PS, FRASER PE, CLARK A.   +5 more
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Increased Expression of Presenilin 2 Inhibits Protein Synthesis

Molecular and Cellular Neuroscience, 2002
Mutations in the presenilin genes PS1 and PS2 are a major cause of early onset familial Alzheimer's disease (AD). Previous studies have suggested that presenilins have several functions, including gamma-secretase activity. It was also shown that presenilin expression is increased in the brains of some AD patients and ischemic rodents. The present study
Amir, Gamliel, Carmit, Teicher, Daniel M, Michaelson, Laurent, Pradier, Tobias, Hartmann, Konrad, Beyreuther, Reuven, Stein   +6 more
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Relevance of a Truncated PRESENILIN 2 Transcript to Alzheimer’s Disease and Neurodegeneration

Journal of Alzheimer's Disease, 2021
Background: The PRESENILIN genes (PSEN1, PSEN2) encoding for their respective proteins have critical roles in many aspects of Alzheimer’s disease (AD) pathogenesis. The PS2V transcript of PSEN2 encodes a truncated protein and is upregulated in AD brains; however, its relevance to AD and disease progression remains to be determined.
Moussavi Nik, S.H., Porter, T., Newman, M., Bartlett, B., Khan, I., Sabale, M., Eccles, M., Woodfield, A., Groth, D., Dore, V., Villemagne, V.L., Masters, C.L., Martins, R.N., Laws, S.M., Lardelli, M., Verdile, G.   +15 more
openaire   +3 more sources

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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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
openaire   +2 more sources

Reduced anxiety in the mice expressing mutant (N141I) presenilin 2

Journal of Neuroscience Research, 2008
AbstractAlzheimer's disease (AD) is characterized by progressive cognitive impairment. The effect of presenilin 1 (PS1) and PS2 mutation on cognition has been well characterized in a variety of transgenic mice. However, noncognitive behaviors have not been considered in these mice.
Dong Yeon, Yuk, Yong Kyung, Lee, Sang Yoon, Nam, Young Won, Yun, Dae Youn, Hwang, Dong Young, Choi, Ki Wan, Oh, Jin Tae, Hong   +7 more
openaire   +2 more sources

Cloning of cDNA and expression of the gene encoding rat presenilin-2

Gene, 1997
We have cloned the rat homologue of the presenilin-2 (PS-2) cDNA. PS-2 is responsible for chromosome 1-linked familial Alzheimer's disease. Sequence analysis predicted that the rat PS-2 encodes a 448 amino acid (aa) protein, and there was a very high degree of amino acid identity between rat and human PS-2 (95%). All the mutated codons in PS-2 and PS-1
H, Takahashi, M, Mercken, Y, Nakazato, K, Noguchi, M, Murayama, K, Imahori, A, Takashima   +6 more
openaire   +2 more sources

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
openaire   +2 more sources