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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.
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]
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).
“Even in those with genetic forms of Alzheimer’s disease, higher baseline Aβ42 levels predict a lower progression to dementia.” “Alzheimer’s is a process of loss (of Aβ42) not of gain ...
Recent research has shown that large soluble APP (sAPP) [9] that are present in CSF may serve as a novel potential biomarker of Alzheimer's disease. In an article published in Nature, a group led by Lewczuk performed a test to observe the performance of a soluble form of APP α and β. A significant increase in sAPP α and sAPP β was found in ...
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 ...
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 ...
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