TY - JOUR
AU - Newman, Morgan
AB - PRESENILIN 1 (PSEN1) and PRESENILIN 2 (PSEN2) genes are loci for mutations causing familial Alzheimer’s disease (fAD). However, the function of these genes and how they contribute to fAD pathogenesis has not been fully determined. This review provides a summary of the overlapping and independent functions of the PRESENILINS with a focus on the lesser studied PSEN2. As a core component of the γ-secretase complex, the PSEN2 protein is involved in many γ-secretase-related physiological activities, including innate immunity, Notch signaling, autophagy, and mitochondrial function. These physiological activities have all been associated with AD progression, indicating that PSEN2 plays a particular role in AD pathogenesis.
TI - A Review of the Familial Alzheimer’s Disease Locus PRESENILIN 2 and Its Relationship to PRESENILIN 1
JF - Journal of Alzheimer's Disease
DO - 10.3233/jad-180656
DA - 2018-12-12
UR - https://www.deepdyve.com/lp/ios-press/a-review-of-the-familial-alzheimer-s-disease-locus-presenilin-2-and-CFAfAEC19O
SP - 1323
EP - 1339
VL - 66
IS - 4
DP - DeepDyve
ER -