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Pathway : Alzheimer's disease

Identifier  05010 Description  Alzheimer's disease AD is a chronic disorder that slowly destroys neurons and causes serious cognitive disability AD is associated with senile plaques and neurofibrillary tangles NFTs Amyloid-beta Abeta, a major component of senile plaques, has various pathological effects on cell and organelle function The extracellular Abeta oligomers may activate caspases through activation of cell surface death receptors Alternatively, intracellular Abeta may contribute to pathology by facilitating tau hyper-phosphorylation, disrupting mitochondria function, and triggering calcium dysfunction To date genetic studies have revealed four genes that may be linked to autosomal dominant or familial early onset AD FAD These four genes include: amyloid precursor protein APP, presenilin 1 PS1, presenilin 2 PS2 and apolipoprotein E ApoE All mutations associated with APP and PS proteins can lead to an increase in the production of Abeta peptides, specfically the more amyloidogenic form, Abeta42 FAD-linked PS1 mutation downregulates the unfolded protein response and leads to vulnerability to ER stress

1 Data Sets

348 Genes

0 Proteins