Results 181 to 190 of about 26,399 (217)

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

Neurotoxic Mechanisms by Alzheimer’s Disease-Linked N141I Mutant Presenilin 2

The Journal of Pharmacology and Experimental Therapeutics, 2002
Although it has been established that oxidative stress mediates cytotoxicity by familial Alzheimer's disease (FAD)-linked mutants of presenilin (PS)1 and that pertussis toxin inhibits cytotoxicity by FAD-linked N141I-PS2, it has not been determined whether oxidative stress is involved in cytotoxicity by N141I-PS2 or which pertussis toxin-sensitive ...
Yuichi, Hashimoto, Takako, Niikura, Yuko, Ito, Yoshiko, Kita, Kenzo, Terashita, Ikuo, Nishimoto   +5 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
openaire   +4 more sources

Presenilin 2 mutations alter cystatin C trafficking in mouse primary neurons

Neurobiology of Aging, 2007
Mutations in the presenilin genes account for the majority of familial Alzheimer disease (FAD) cases. In the present report we demonstrated that the FAD-linked presenilin 2 mutations (PS2 M239I and T122R) alter cystatin C trafficking in mouse primary neurons reducing secretion of its glycosylated form.
R. GHIDONI, L. BENUSSI, A. PATERLINI, MISSALE, Mariacristina, A. USARDI, R. ROSSI, L. BARBIERO, SPANO, Pier Franco, G. Binetti   +8 more
openaire   +2 more sources

Overexpression of Presenilin‐2 Enhances Apoptotic Death of Cultured Cortical Neurons

Annals of the New York Academy of Sciences, 2000
Abstract: Presenilin‐2 (PS2) is a gene of unknown function linked with some forms of familial Alzheimer's disease. To investigate the biological role of PS2 in neurons, we overexpressed PS2 in primary cortical neurons using recombinant adenoviral vectors.
W, Araki, K, Yuasa, S, Takeda, K, Shirotani, K, Takahashi, T, Tabira   +5 more
openaire   +2 more sources

A Novel Italian Presenilin 2 Gene Mutation with Prevalent Behavioral Phenotype

Journal of Alzheimer's Disease, 2009
Presenilin mutations are the main cause of familial Alzheimer's disease. So far, more than 160 mutations in the Presenilin 1 gene (PSEN1) and approximately 10 mutations in the homologous Presenilin 2 gene (PSEN2) have been identified. Some PSEN1 mutations are associated with a phenotype fulfilling the clinical criteria of frontotemporal dementia.
Gabriella, Marcon, Giuseppe, Di Fede, Giorgio, Giaccone, Giacomina, Rossi, Anna Rita, Giovagnoli, Elio, Maccagnano, Fabrizio, Tagliavini   +6 more
openaire   +2 more sources

Presenilin-2 gene mutation presenting as Lewy Body dementia?

Neurological Sciences, 2011
Raciti L, NICOLETTI, Alessandra, Le Pira F, Andreoli V, Contrafatto D, Lanzafame S, MACI, TIZIANA, Gambardella A, Quattrone A, ZAPPIA, MARIO   +9 more
openaire   +1 more source

Repression of presenilin 2 expression by oxidative stress

Neurobiology of Aging, 2000
Roberta Ghidoni, Laura Gasparini, Antonella Alberici, Luisa Benussi, Dario Finazzi, Benerini Gatta Luisa, John H. Growdon, Giuliano Gb. Binetti   +7 more
openaire   +1 more source

Presenilin-2

2013
openaire   +1 more source

The role of presenilin cofactors in the γ-secretase complex

Nature, 2003
Nobumasa Takasugi, Taisuke Tomita, Gopal Thinakaran   +2 more
exaly