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Presenilin-Mediated Signaling

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Description

Presenilins are polytopic transmembrane proteins, mutations in which are associated with the occurrence of Early-onset familial Alzheimer s disease, a rare form of the disease that results from a single-gene mutation. The physiological functions of Presenilins are unknown, but they may be related to Developmental signaling, Apoptotic signal transduction, or processing of selected proteins, such as the Beta-APP (Beta-Amyloid precursor protein). Presenilin homologues identified in species that do not have an Alzhemier s disease suggests that they may have functions unrelated to the disease, homologues having been identified in Mouse, Drosophila melanogaster, Caenorhabditis elegans and other members of the eukarya including Plants. In humans, there are two known Presenilins, PS1 (Presenilin-1) and PS2 (Presenilin-2). PS1 and PS2 proteins are composed of 467 [...]

References:

1.The genetic landscape of Alzheimer disease: clinical implications and perspectives.
Van Cauwenberghe C, Van Broeckhoven C, Sleegers K.
Genet Med. 2016 May;18(5):421-30. doi: 10.1038/gim.2015.117. Epub 2015 Aug 27. Review.
2.Presenilins and γ-secretase: structure, function, and role in Alzheimer Disease.
De Strooper B, Iwatsubo T, Wolfe MS.
Cold Spring Harb Perspect Med. 2012 Jan;2(1):a006304. doi: 10.1101/cshperspect.a006304. Review.
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