Results 41 to 50 of about 24,368 (229)

Presenilin-1 F105C mutation leads to tau accumulation in human neurons via the Akt/mTORC1 signaling pathway

Cell & Bioscience, 2022
Background The mammalian target of rapamycin (mTOR) plays a critical role in controlling cellular homeostasis, and its dysregulation has been implicated in Alzheimer’s disease (AD).
Cheong-Meng Chong, Yuan Tan, Jiaqi Tong, Minjing Ke, Ke Zhang, Lingli Yan, Xiaotong Cen, Jia-Hong Lu, Guobing Chen, Huanxing Su, Dajiang Qin   +10 more
doaj   +1 more source

Evaluación de la producción de b-amiloide por la mutación E280A en el gen de la presenilina 1

Biomédica: revista del Instituto Nacional de Salud, 2007
Introducción. La mutación E280A en el gen de presenilina 1 se encuentra asociada al grupo familiar más grande del mundo con enfermedad de Alzheimer. La presenilina 1 es un componente esencial del complejo g-secretasa, responsable de la producción del ...
Andrés Villegas, Mónica M. Castañeda, Luis Fernando Arias, Beatriz Vieco, Francisco Lopera, Gabriel Bedoya   +5 more
doaj   +1 more source

Basal forebrain global functional connectivity is preserved in asymptomatic presenilin-1 E280A mutation carriers: Results from the Colombia cohort. [PDF]

J Prev Alzheimers Dis
Grazia A, Dyrba M, Pomara N, Temp AG, Grothe MJ, Teipel SJ, Alzheimer's Prevention Initiative (API) Autosomal-Dominant Alzheimer's Disease (ADAD) Trial.   +6 more
europepmc   +2 more sources

Presenilin promotes dietary copper uptake. [PDF]

PLoS ONE, 2013
Dietary copper is essential for multicellular organisms. Copper is redox active and required as a cofactor for enzymes such as the antioxidant Superoxide Dismutase 1 (SOD1). Copper dyshomeostasis has been implicated in Alzheimer's disease.
Adam Southon, Mark A Greenough, George Ganio, Ashley I Bush, Richard Burke, James Camakaris   +5 more
doaj   +1 more source

Fatty acids increase presenilin-1 levels and γ-secretase activity in PSwt-1 cells

Journal of Lipid Research, 2004
Presenilin-1 (PS1) is an important determinant of the γ-secretase activity necessary for the generation of β-amyloid (Aβ), likely the central pathogenic molecule in Alzheimer's disease.
Yanzhu Liu, Lin Yang, Karin Conde-Knape, Dirk Beher, Mark S. Shearman, Neil S. Shachter   +5 more
doaj   +1 more source

Pen2 and Presenilin-1 Modulate the Dynamic Equilibrium of Presenilin-1 and Presenilin-2 γ-Secretase Complexes [PDF]

Journal of Biological Chemistry, 2009
gamma-Secretase is known to play a pivotal role in the pathogenesis of Alzheimer disease through production of amyloidogenic Abeta42 peptides. Early onset familial Alzheimer disease mutations in presenilin (PS), the catalytic core of gamma-secretase, invariably increase the Abeta42:Abeta40 ratio.
Lisa, Placanica, Leonid, Tarassishin, Guangli, Yang, Erica, Peethumnongsin, Seong-Hun, Kim, Hui, Zheng, Sangram S, Sisodia, Yue-Ming, Li   +7 more
openaire   +2 more sources

Transcriptional Regulation of the Mouse Presenilin-1 Gene [PDF]

Journal of Biological Chemistry, 1997
The presenilin-1 (PS-1) gene encodes at least three separate mRNA transcripts from its 12 exons, which are spread over 50 kilobase pairs of mouse DNA. The first transcript begins with exon 1A, whereas the other transcripts begin with exon 1B. Different portions of exon 1B are spliced to give long and short mRNAs.
N, Mitsuda, A D, Roses, M P, Vitek
openaire   +2 more sources

Switched Aβ43 generation in familial Alzheimer’s disease with presenilin 1 mutation

Translational Psychiatry, 2021
Presenilin (PS) with a genetic mutation generates abundant β-amyloid protein (Aβ) 43. Senile plaques are formed by Aβ43 in the cerebral parenchyma together with Aβ42 at middle ages. These brains cause the early onset of Alzheimer’s disease (AD), which is
Nobuto Kakuda, Mako Takami, Masayasu Okochi, Kensaku Kasuga, Yasuo Ihara, Takeshi Ikeuchi   +5 more
doaj   +1 more source

A systematic review of familial Alzheimer's disease: Differences in presentation of clinical features among three mutated genes and potential ethnic differences

Journal of the Formosan Medical Association, 2016
There are great diversities of clinical phenotypes among the various familial Alzheimer's disease (FAD) families. We aimed to systematically review all the previously reported cases of FAD and to perform comparisons between Asian and white patients.
Yat-Fung Shea, Leung-Wing Chu, Angel On-Kei Chan, Joyce Ha, Yan Li, You-Qiang Song   +5 more
doaj   +1 more source

The ins and outs of presenilin 1 membrane topology [PDF]

Proceedings of the National Academy of Sciences, 2004
Mutations of presenilin 1 (PS1) account for up to 60% of early-onset familial Alzheimer's disease (AD) (1). Because PS1 is a polytopic membrane protein, deciphering its topology is crucial to understanding its important functions. Hydropathy analysis of the PS1 primary amino acid sequence identified 10 hydrophobic regions (HR) [see figure 1A of Dewji ...
Jinoh, Kim, Randy, Schekman
openaire   +2 more sources