PSEN1

(redirected from Presenilin 1)
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PSEN1

A gene on chromosome 14q24.3 that encodes a probable catalytic subunit of the gamma-secretase complex, which catalyses the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP. It may play a role in intracellular signalling and gene expression, and in linking chromatin to the nuclear membrane. PSEN1 stimulates cell–cell adhesion by associating with the E-cadherin/catenin complex; it cleaves E-cadherin during apoptosis or calcium influx, promoting the disassembly of the E-cadherin/catenin complex and increases the pool of cytoplasmic beta-catenin, thus downregulating Wnt signalling. It may play a role in haematopoiesis.

Molecular pathology
Defects in PSEN1 cause of Alzheimer disease type 3, frontotemporal dementia, cardiomyopathy dilated type 1U, and familial acne inversa type 3.
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References in periodicals archive ?
Zheng, "Presenilin 1 familial Alzheimer's disease mutation leads to defective associative learning and impaired adult neurogenesis," Neuroscience, vol.
Shen, "Hippocampal spatial memory impairments caused by the familial Alzheimer's disease-linked presenilin 1 M146V mutation," Neurodegenerative Diseases, vol.
The Alzheimer's prevention initiative composite cognitive test score sample size estimates for the evaluation of preclinical Alzheimer's disease treatments in presenilin 1 E280A mutation carriers.
The Alzheimer's Prevention Initiative Autosomal Dominant Alzheimer's Disease Treatment Trial is recruiting Colombian families who carry the presenilin 1 mutation--a virtual guarantee of early-onset Alzheimer's disease.
There are three main gene mutations that have been implicated in familial Alzheimer's disease--Amyloid beta (A4) precursor protein (APP), (19) Presenilin 1 (PSEN1) (20) and Presenilin 2 (PSEN2).
Mutations in amyloid precursor protein, presenilin 1, and presenilin 2 have been shown to cause a change in the processing of A1342 and thus lead to AD.
Researchers in other countries report that [beta]-amyloid precursor protein (APP), presenilin 1 (PSEN1) and presenilin 2 (PSEN2) are related to early-onset AD, [37] but there have been few studies on these genes in China.
The New York Stem Cell Foundation (NYSCF) Research Institute in collaboration with scientists at the Icahn School of Medicine at Mount Sinai (ISMMS) produced stem cells and neural precursor cells (NPCs), representing early neural progenitor cells that build the brain, from patients with severe early-onset AD with mutations in the Presenilin 1 (PSEN1) gene.
Genetic markers associated with autosomal dominant early-onset (typically occurs before the age of 65 years) familial AD include mutations in the amyloid precursor protein (APP) gene and in the genes for presenilin 1 and 2 (PSEN1 and PSEN2), proteins that make up part of the secretase protein complex.
The APP cleavage is initiated by [beta]-secretase to release the Nterminal short APP[beta] leaving the C-terminal fragment-[beta] in the membrane which is sequentially hydrolyzed by the ysecretase in association with presenilin 1 and presenilin 2 enzymes complex.