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Presenilin-2 (PSEN2)

ALZPEDIA Presenilin-2 (PSEN2) is one of two highly homologous presenilin genes expressed in vertebrates. Presenilin-1 (PSEN1) has been more extensively studied in Alzheimer’s research because fewer mutations in PSEN2 are known. Mutations in the presenilin genes ar

Presenilin-1 (PSEN1)

ALZPEDIA Presenilins were originally identified as the genes harboring mutations that cause autosomal-dominant Alzheimer’s disease. Such mutations occur in both presenilin-1 and its homolog presenilin-2, but the former are far more numerous. The presenilin protein

PS cDKO

RESEARCH MODELS Summary To generate postnatal forebrain-specific conditional double knock-out mice lacking both PSEN1 and PSEN2 (PS cDKO) mice, floxed PS1 (fPS1), αCaMKII-Cre transgenic mice and PS2-/- mice were bred together. This cross results in mice that have PSEN1 c

CNS-restricted PS1 cKO

RESEARCH MODELS Summary To create CNS-restricted PS1 conditional KO mice, a floxed fPS1 mouse (Yu et al., 2000; Yu et al., 2001) was crossed with Nestin-Cre transgenic mice, in which Cre is expressed in neural progenitor cells under the control of the Nestin promoter. In

PS1 conditional Knock-out

RESEARCH MODELS Summary PSEN1 conditional knockout (PS1 cKO) mice were generated from a Cre/lox recombination system. With this strategy PSEN1 expression is progressively eliminated from the neocortex and hippocampus beginning in the third postnatal week. Briefly, mice c

PSEN1 R108Q

MUTATIONS PSEN1 73637740 GRCh37/hg19 rs200646139 G A Exon 4 Point, Missense Coding In cell assay, increased Aβ42 and Aβ40; in vitro, decreased Aβ42 production and undetectable Aβ40 production. Unknown. R108Q Alzheimer's Disease: Not ClassifiedAlzheimer's

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