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- Table of Contents
Facts about Presenilin-1.
Plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels (PubMed:9738936, PubMed:10593990, PubMed:10899933, PubMed:10811883). Stimulates cell-cell adhesion through its interaction with CDH1; this stabilizes the complexes between CDH1 (E-cadherin) and its interaction partners CTNNB1 (beta-catenin), CTNND1 and JUP (gamma-catenin) (PubMed:11953314).
Human | |
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Gene Name: | PSEN1 |
Uniprot: | P49768 |
Entrez: | 5663 |
Belongs to: |
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peptidase A22A family |
AD3EC 3.4.23.-; Alzheimer disease 3; EC 3.4.23; FAD; presenilin 1; Presenilin1; Presenilin-1; Protein S182; PS-1; PS1presenilin-1; PSEN1; PSNL1; S182
Mass (kDA):
52.668 kDA
Human | |
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Location: | 14q24.2 |
Sequence: | 14; NC_000014.9 (73136436..73223691) |
Detected in azurophile granules in neutrophils and in platelet cytoplasmic granules (at protein level) (PubMed:11987239). Expressed in a wide range of tissues including various regions of the brain, liver, spleen and lymph nodes (PubMed:7596406, PubMed:8641442, PubMed:8574969).
Endoplasmic reticulum. Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Cytoplasmic granule. Cell membrane; Multi-pass membrane protein. Cell projection, growth cone. Early endosome. Early endosome membrane; Multi-pass membrane protein. Cell projection, neuron projection. Cell projection, axon. Cell junction, synapse. Translocates with bound NOTCH1 from the endoplasmic reticulum and/or Golgi to the cell surface (PubMed:10593990). Colocalizes with CDH1/2 at sites of cell-cell contact. Colocalizes with CTNNB1 in the endoplasmic r
In this article, we'll discuss Steven Boster's background as well as his current work. We'll also look at the connection between Boster's work and the latest medical applications. This article is applicable to all scientists around the globe. We will also review Boster's research across a variety of fields including psychoiatry, neuroscience, and Pharmacology. We'll also talk about his work on the PSEN1 Marker.
A marker epigenetic for Alzheimer's has been discovered. This could be a major step towards a earlier diagnosis and new treatments. Scientists have long known that PSEN1 plays a role in the development of Alzheimer's disease. recent research by the National Institutes of Health shows that at least 150 gene mutations in PSEN1 are associated with early-onset Alzheimer's disease. It may begin in individuals as early as their mid-50s.
His study on the PSEN1 mark suggests that FAD modulates the kinase activity for the phospholipase D1. PSEN1 mutants also reduce the activity of ER chaperone GRP78/BiP. Moreover, these mutants impair the activity of the translation-suppressing molecule eIF2-alpha. This result indicates that PSEN1 mutations increase the vulnerability of cells to ER stress.
His current research on the PSEN1 marker has identified novel mutations that are linked to increased susceptibility to prostate cancer. These mutations are present in the PSEN1's primary structure and are associated with a reduced chance of progression to advanced stages. The GSEC turnover efficiency was measured using the Ab (37 + 38 + 40) (42 + 43) (42 + 43) ratio. Table S4C lists PSEN1 mutations related to FAD genes.
The PSEN1 marker binds to phospholipase D1 also known as 602382. PLD1 is involved in activation of cells into the Golgi/trans-Golgi system. Overexpression of PLD1 decreased gamma-secretase-mediated beta-amyloid generation in mice, whereas downregulation increased beta-amyloid production. PLD1 impairs cognition through disrupting the connection between tau protein and gamma-secretase protein.
The PSEN1 mutation study revealed fundamental information and set conditions for a biochemical evaluation of the pathogenicity of the mutation. In addition, it provided an effective test for clinical research. The determination of intrinsic AAO in FAD-linked carriers could aid in identifying patients suffering from mismatches between clinical and biochemical AAO. It may also suggest genetic factors that cause the disease. His current work using PSEN1 markers has created a novel method to determine AAO risk.
PSEN1 and PSEN2 are very homologous. Both types generate longer Ab peptides and localise in the endosomes. The pathogenic variants in PSEN2 are associated with later AAOs. In PSEN1 there are eight mutations which affect the same position in both subunits. This may explain the high degree of correlation between the two markers. There are numerous genetic variants that may be linked to AD which are both familial and sporadic.
PMID: 7596406 by Sherrington R., et al. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease.
PMID: 8641442 by Sahara N., et al. Identification and characterization of presenilin I-467, I-463 and I- 374.