Preferred Label : Alzheimer's Disease Pathway KEGG;
NCIt synonyms : Alzheimers Disease Pathway;
NCIt related terms : Alzheimer's Disease;
Alternative definition : KEGG: 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, specifically the more amyloidogenic form, Abeta42. FAD-linked PS1 mutation
downregulates the unfolded protein response and leads to vulnerability to ER stress.;
KEGG ID : hsa05010;
Origin ID : C38778;
UMLS CUI : C1521724;
Automatic exact mappings (from CISMeF team)
See also inter- (CISMeF)
Semantic type(s)
has_gene_product_element
pathway_has_gene_element
https://www.pasteur.fr/fr/centre-medical/fiches-maladies/alzheimer-maladie
2023
France
popular works
Alzheimer's Disease Pathway BioCarta
Alzheimer's Disease
alzheimer disease
alzheimer's disease, nos
Alzheimer's Disease Pathway KEGG
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