Pathways
Presenilin-Mediated Signaling
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...
References:
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The genetic landscape of Alzheimer disease: clinical implications and perspectives.
Genet Med. 2016 May;18(5):421-30. doi: 10.1038/gim.2015.117. Epub 2015 Aug 27. Review. -
Presenilins and γ-secretase: structure, function, and role in Alzheimer Disease.
Cold Spring Harb Perspect Med. 2012 Jan;2(1):a006304. doi: 10.1101/cshperspect.a006304. Review. -
APP processing in Alzheimer's disease.
Mol Brain. 2011 Jan 7;4:3. doi: 10.1186/1756-6606-4-3. Review. -
Deletion of the amyloid precursor-like protein 2 (APLP2) does not affect hippocampal neuron morphology or function.
Mol Cell Neurosci. 2012 Apr;49(4):448-55. doi: 10.1016/j.mcn.2012.02.001. Epub 2012 Feb 13.
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