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19165 Ensembl ENSG00000143801 ENSMUSG00000010609 UniProt P49810 Q61144 RefSeq (mRNA) NM_000447 NM_012486 NM_001128605 NM_011183 RefSeq (protein) NP_000438 NP_036618 NP_001122077 NP_035313 Location (UCSC) Chr 1: 226.87 – 226.93 Mb Chr 1: 180.05 – 180.09 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Presenilin-2 is a protein that (in humans) is encoded by the PSEN2 gene. Function ...
In patients with Alzheimer's disease (autosomal dominant hereditary), mutations in the presenilin proteins (PSEN1; PSEN2) or the amyloid precursor protein (APP) can be found. The majority of these cases carry mutant presenilin genes. An important part of the disease process in Alzheimer's disease is the accumulation of Amyloid beta (Aβ
Cruchaga and his lab generates and analyze human multi-omic (genetic, epigenomic, transcriptomic, proteomic, metabolomic and lipidomic) data generated from well clinically-characterized cohorts in order to identify novel genes and pathways implicated on neurodegenerative disease, mainly Alzheimer's and Parkinson's disease, to identify novel molecular biomarkers and druggable targets.
“Some of our co-authors had previously shown that a rare genetic mutation in the APOE gene is actually very protective against Alzheimer’s disease, and that this had something to do with ...
Alzheimer’s usually is a disease of people over age 65 and while simply getting older is the main risk, the APOE gene has long been known to play some role. It comes in three main varieties.
Some carry APOE2, which provides some protection against Alzheimer’s. APOE4 has long been labeled the biggest genetic risk factor for late-in-life Alzheimer’s, with two copies risker than one.
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