GoPubMed Proteins lists recent and important papers and reviews for
proteins. Page last changed on 13 Nov 2015.
Presenilin-1, FAD, PS1, presenilin, PSI
Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-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 regulate gamma-secretase activity or themselves are protease enzymes. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined. [provided by RefSeq, Aug 2008] (from
Bland et al., Denver, United States. In Brain Res, 09 Dec 2015
We have previously reported that the social encounter-induced increases in Fos expression in the medial prefrontal cortex observed in group-housed controls (GRP) was attenuated in rats that had experienced PSI.
Here we report that FAD mutations in β-amyloid precursor protein and presenilin 1 are able to induce robust extracellular deposition of amyloid-β, including amyloid-β plaques, in a human neural stem-cell-derived three-dimensional (3D) culture system.
Couch et al., Rochester, United States. In Dev Cell, 2012
A specific role for BRCA2 in the regulation of midbody structure and function is identified that is separate from DNA damage repair and is an explanation of whole-chromosomal instability in BRCA2-deficient tumors.
Anand et al., Hamilton, Canada. In Bmc Med Genet, 2011
Although there was an association between two SNPs in BRCA2 and cardiovascular disease in a multi-ethnic population, these results were not replicated in two South Asian case-control studies of incident myocardial infarction.
Hafez et al., Sūhāj, Egypt. In Egypt J Immunol, 2010
Sixty-two patients (index cases) with invasive breast cancer belonging to sixty families and their asymptomatic female first-degree relatives (300 cases) were studied for germline mutations of BRCA1 and BRCA2 genes.