disease 997 words KG: ent-dise-2cd91937
Contents

APP Mutations in Alzheimer's Disease

Disease Info
Prevalence~10-15% of familial AD cases
Typical Onset~50-60 years
InheritanceAutosomal dominant
GeneAPP (Amyloid Precursor Protein)
Chromosome21q21.3
Mutation Count>40 pathogenic mutations identified
Neuronal developmentPromotes neurite outgrowth and synaptic formation
Synaptic plasticityModmission
ulates excitatoryBMetal homeostasis neurotransinds copper, zinc, and iron
Cellular stress responseActivates protective pathways
LocationAβ24 (D23N, "Iowa")
EffectEnhanced Aβ40 aggregation, cerebral amyloid angiopathy
DatabasesOMIMOrphanetClinicalTrialsPubMed

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