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The biochemistry of Alzheimer's disease, the most common cause of dementia, is not yet very well understood. 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]
Neurofibrillary tangles (NFTs) are intracellular aggregates of hyperphosphorylated tau protein that are most commonly known as a primary biomarker of Alzheimer's disease. Their presence is also found in numerous other diseases known as tauopathies. Little is known about their exact relationship to the different pathologies.
Most cases of Alzheimer's disease are not hereditary. However, there is a small subset of cases that have an earlier age of onset and have a strong genetic element. 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 ...
Presenilin-1 (PS-1) is a presenilin protein that in humans is encoded by the PSEN1 gene. [5] Presenilin-1 is one of the four core proteins in the gamma secretase complex, which is considered to play an important role in generation of amyloid beta (Aβ) from amyloid-beta precursor protein (APP).
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 ...
26570 Ensembl ENSG00000151012 ENSMUSG00000027737 UniProt Q9UPY5 Q9WTR6 RefSeq (mRNA) NM_014331 NM_011990 RefSeq (protein) NP_055146 NP_036120 Location (UCSC) Chr 4: 138.16 – 138.24 Mb Chr 3: 49.85 – 50.4 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Cystine/glutamate transporter is an antiporter that in humans is encoded by the SLC7A11 gene. The SLC7A11 gene encodes a sodium ...
Alzheimer's disease is a chronic neurological illness whose prevalence rises rapidly as people reach the age of 65. According to reports, Alzheimer's disease is one of the top ten main causes of death in the United States.There are 50 introns and 38 exons in the neuron navigator 2 (NAV2) gene. [10]
In molecular biology, protein aggregation is a phenomenon in which intrinsically-disordered or mis-folded proteins aggregate (i.e., accumulate and clump together) either intra- or extracellularly. [1] [2] Protein aggregates have been implicated in a wide variety of diseases known as amyloidoses, including ALS, Alzheimer's, Parkinson's and prion ...
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