- PSEN1
Presenilin 1 (Alzheimer disease 3), also known as PSEN1, is a human
gene .PBB_Summary
section_title =
summary_text =Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1 ;PSEN2 ) or in theamyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form ofamyloid beta (main component ofamyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects ongamma secretase , an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulategamma secretase activity or themselves areprotease enzymes. Multiple alternatively spliced transcript variants have been identified for this gene, the full-length natures of only some have been determined. [cite web | title = Entrez Gene: PSEN1 presenilin 1 (Alzheimer disease 3)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5663| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Cruts M, Hendriks L, Van Broeckhoven C |title=The presenilin genes: a new gene family involved in Alzheimer disease pathology. |journal=Hum. Mol. Genet. |volume=5 Spec No |issue= |pages= 1449–55 |year= 1997 |pmid= 8875251 |doi=
*cite journal | author=Cruts M, Van Broeckhoven C |title=Presenilin mutations in Alzheimer's disease. |journal=Hum. Mutat. |volume=11 |issue= 3 |pages= 183–90 |year= 1998 |pmid= 9521418 |doi= 10.1002/(SICI)1098-1004(1998)11:3<183::AID-HUMU1>3.0.CO;2-J
*cite journal | author=Larner AJ, Doran M |title=Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene. |journal=J. Neurol. |volume=253 |issue= 2 |pages= 139–58 |year= 2006 |pmid= 16267640 |doi= 10.1007/s00415-005-0019-5
*cite journal | author=Wolfe MS |title=When loss is gain: reduced presenilin proteolytic function leads to increased Abeta42/Abeta40. Talking Point on the role of presenilin mutations in Alzheimer disease. |journal=EMBO Rep. |volume=8 |issue= 2 |pages= 136–40 |year= 2007 |pmid= 17268504 |doi= 10.1038/sj.embor.7400896
*cite journal | author=De Strooper B |title=Loss-of-function presenilin mutations in Alzheimer disease. Talking Point on the role of presenilin mutations in Alzheimer disease. |journal=EMBO Rep. |volume=8 |issue= 2 |pages= 141–6 |year= 2007 |pmid= 17268505 |doi= 10.1038/sj.embor.7400897PBB_Controls
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