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Alzheimer's disease (AD) has been identified as a proteopathy: a protein misfolding disease due to the accumulation of abnormally folded amyloid beta (Aβ) protein in the brain. [1] Amyloid beta is a short peptide that is an abnormal proteolytic byproduct of the transmembrane protein amyloid-beta precursor protein (APP), whose function is ...
Cleavage by gamma secretase within the membrane-spanning domain after beta-secretase cleavage generates the amyloid-beta fragment; gamma secretase is a large multi-subunit complex whose components have not yet been fully characterized, but include presenilin, whose gene has been identified as a major genetic risk factor for Alzheimer's.
The normal function of Aβ is not yet known. [9] Though some animal studies have shown that the absence of Aβ does not lead to any obvious loss of physiological function, [10] [11] several potential activities have been discovered for Aβ, including activation of kinase enzymes, [12] [13] protection against oxidative stress, [14] [15] regulation of cholesterol transport, [16] [17] functioning ...
Activity-regulated cytoskeleton-associated protein is a plasticity protein that in humans is encoded by the ARC gene. The gene is believed to derive from a retrotransposon . [ 5 ] The protein is found in the neurons of tetrapods and other animals where it can form virus-like capsids that transport RNA between neurons.
Protein levels of retromer subunits have also been found to be reduced in the transentorhinal cortex of sporadic Alzheimer’s patients, the brain region where Alzheimer’s disease begins. [19] SORL1-VPS26B retromer has been linked with regulation of amyloid precursor protein (APP), faulty processing of which is implicated in Alzheimer's.
As described above, phosphorylation of MAPs causes them to detach from microtubules. Thus, the hyperphosphorylation of tau leads to massive detachment, which in turn greatly reduces the stability of microtubules in nerve cells.[9] This increase in microtubule instability may be one of the main causes of the symptoms of Alzheimer's disease.
Regulation of gene expression, or gene regulation, [1] includes a wide range of mechanisms that are used by cells to increase or decrease the production of specific gene products (protein or RNA). Sophisticated programs of gene expression are widely observed in biology, for example to trigger developmental pathways, respond to environmental ...
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 ...
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