Gene offi cial symbol Gene name Location Possible pathways / pathological biological processes MenDeLIAn Genes APP Amyloid β (A4) precursor protein 21q21.3 Damage response?/Amyloid cascade PSEN1 Presenilin 1 14q24.3 Regulation of APP processing (amyloid cascade); cleavage of APP, the Notch receptor, and other transmembrane proteins PSEN2 Presenilin 2 1q31-q42 Regulation of APP processing (amylo...

β-amyloid peptides (Aβ) are generated in intracellular compartments of neurons and secreted to form cytotoxic fibrils plaques. Dysfunctional membrane trafficking contributes aberrant Aβ production Alzheimer's disease. Endosomes represent one the major sites for recently Golgi has re-emerged also as a location amyloid precursor protein (APP) processing production. Based on recent findings, here ...

The cerebral accumulation of -amyloid protein (A ) is thought to play a key role in the molecular pathology of Alzheimer’s disease (AD). Recent evidence indicates that both -secretase and -secretase, the membrane-associated proteases directly involved in the generation of A from its precursor, amyloid precursor protein (APP), are localized to cholesterol-rich membrane microdomains termed lipid ...