Gene Disease Mutation Reference Cellular Phenotypes
APP Alzheimer's Duplication 22278060
Neurons
  • Decreased anti-glycogen synthase kinase 3 beta (aGSK-3β) levels in neurons after treatment with β-secretase inhibitors
  • Decreased p-tau/total tau ratio in neurons after treatment with β-secretase inhibitors
  • Increased amount of anti-glycogen synthase kinase 3 beta (aGSK-3β) in neurons
  • Increased amount of large Rab5+ early endosomes in neurons
  • Increased p-tau/total tau ratios in neurons
  • Increased secretion of Aβ (1-40) by neurons
APP Alzheimer's E693Δ 23434393
Astrocytes
  • Accumulated Aβ oligomers in astrocytes
  • Decrease in ROS in astrocytes after treatment with β-secretase inhibitor
  • Decreased amount of Aβ oligomers in astrocytes after treatment with β-secretase inhibitor
  • Decreased levels of binding protein (BiP) in astrocytes after treatment with β-secretase inhibitor
  • Decreased levels of cleaved caspase-4 in astrocytes after treatment with β-secretase inhibitor
  • Increased ER stress in astrocytes
  • Increased ROS levels in basal conditions in astrocytes
  • Increased binding protein (BiP) levels in astrocytes
  • Increased levels of cleaved caspase-4 in astrocytes
  • Increased oxidative stress in astrocytes
Neurons
  • Accumulation of Aβ oligomers in neurons
  • Decreased ROS in neurons after treatment with β-secretase inhibitor
  • Decreased amount of Aβ-oligomers in neurons with β-secretase inhibitor treatment
  • Decreased amount of oxidative stress in neurons after treatment with β-secretase inhibitor
  • Decreased cell viability in neurons
  • Decreased levels of ROS in neurons after treatment with DHA
  • Decreased levels of binding protein (BiP) in neurons after treatment with DHA
  • Decreased levels of binding protein (BiP) in neurons after treatment with β-secretase inhibitor
  • Decreased levels of cleaved caspase-4 in neurons after treatment with DHA
  • Decreased levels of cleaved caspase-4 in neurons after treatment with β-secretase inhibitor
  • Decreased levels of extracellular Aβ40 in neurons
  • Decreased levels of extracellular Aβ42 in neurons
  • Impairment of ER function in neurons
  • Impairment of Golgi function in neurons
  • Increased ER stress in neurons
  • Increased levels of binding protein (BiP) in neurons
  • Increased levels of binding protein (BiP) in neurons after treatment with high concentrations of DHA
  • Increased levels of cleaved caspase-4 in neurons
  • Increased oxidative stress in neurons after exposure to hydrogen peroxide
  • Partial rescue of cell viability in neurons after treatment with DHA
APP Alzheimer's V717L 23434393
Neurons
  • Increased Aβ42/40 ratio in neurons
  • Increased extracellular Aβ42 in neurons
APP Alzheimer's V717I 24524897
Neurons
  • Decreased Tau protein levels in neurons after treatment with AW7 antibody
  • Decreased ratio of secreted APPs-α to APPs-β in neurons
  • Decreased tau protein levels in neurons after treatment with 3D6 antibody
  • Increased Aβ 38 secretion in neurons
  • Increased Aβ 38/40 ratio in neurons
  • Increased Aβ42/40 ratio in neurons
  • Increased colocalization coefficient of APP with endosomal marker EEA1 in neurons
  • Increased generation of APPs-α relative to APPs-β in neurons after treatment with γ-secretase inhibition
  • Increased levels of TAU protein in neurons
  • Increased levels of phospho-Tau at amino acid S262 in neurons
  • Increased β-secretase cleavage at APP in neurons
APP Alzheimer's Duplication 25285942
NSCs
  • Decreased amount of Aβ38 in NSCs after treatment with γ-secretase modulator
  • Decreased amount of Aβ40 in NSCs after treatment with γ-secretase modulator
  • Decreased amount of Aβ42 in NSCs after treatment with γ-secretase modulator
PSEN1 Alzheimer's A246E 21900357
Neurons
  • Decreased amount of extracellular Aβ 42 by neurons after treatment with γ-secretase inhibitor
  • Decreased amount of extracellular Aβ 42 by neurons by treatment with a selective Aβ42-lowering agent
  • Increased Aβ42/40 ratio in neurons
  • Increased extracellular Aβ42 in neurons
PSEN1 Alzheimer's L166P 22510327
Neurons
  • Accumulation of APP-CTFs upon exposure to DAPT in neurons
  • Decreased production of endogenous Aβ 40 in neurons
  • Decreased secretion levels of Aβ 40 and 42 in neurons after treatment with Dual Antiplatelet Therapy (DAPT)
  • Increased Aβ42/40 ratio in neurons
  • Partial impairment of γ-secretase function in neurons
PSEN1 Alzheimer's A246E 24416243
NSCs
  • Increased Aβ42/40 ratio in NSCs
PSEN1 Alzheimer's A246E 25285942
NSCs
  • Decreased Aβ42:Aβ40 ratio in NSCs after treatment with γ-secretase modulator
Neurons
  • Decreased Aβ42:Aβ40 ratio in neurons after treatment with γ-secretase modulator
  • Decreased amount of Aβ 38 in neurons after treatment with γ-secretase inhibitor
  • Decreased amount of Aβ 40 in neurons after treatment with γ-secretase inhibitor
  • Decreased amount of Aβ 42 in neurons after treatment with γ-secretase inhibitor
  • Decreased amount of Aβ38 in neurons after treatment with γ-secretase modulator
  • Decreased amount of Aβ40 in neurons after treatment with γ-secretase modulator
  • Decreased amount of Aβ42 in neurons after treatment with γ-secretase modulator
  • Decreased amount of extracellular Aβ 40 by neurons after treatment with γ-secretase modulator
  • Decreased amount of extracellular Aβ 42 by neurons after treatment with γ-secretase modulator
  • Decreased amount of total Aβ in neurons after treatment with γ-secretase inhibitor
  • Increased Aβ42/40 ratio in neurons
  • Increased amount of Aβ42 in neurons
  • Increased production of Aβ37 in neurons after treatment with γ-secretase modulator
  • Increased production of Aβ39 in neurons after treatment with γ-secretase modulator
iPSCs
  • Decreased Aβ42:Aβ40 ratio in iPSCs after treatment with γ-secretase modulator
  • Decreased amount of Aβ38 in iPSCs after treatment with γ-secretase modulator
  • Decreased amount of Aβ40 in iPSCs after treatment with γ-secretase modulator
  • Decreased amount of Aβ42 in iPSCs after treatment with γ-secretase modulator
PSEN1 Alzheimer's H163R 25285942
Neurons
  • Decreased Aβ42:Aβ40 ratio in neurons after treatment with γ-secretase modulator
  • Decreased amount of Aβ42 in neurons after treatment with γ-secretase modulator
  • Increased Aβ42/40 ratio in neurons
  • Increased amount of Aβ42 in neurons
PSEN1 Alzheimer's M146L 25285942
Neurons
  • Decreased Aβ42:Aβ40 ratio in neurons after treatment with γ-secretase modulator
  • Decreased amount of Aβ42 in neurons after treatment with γ-secretase modulator
  • Increased Aβ42/40 ratio in neurons
  • Increased amount of Aβ42 in neurons
PSEN2 Alzheimer's N141I 21900357
Neurons
  • Decreased amount of extracellular Aβ 42 by neurons after treatment with γ-secretase inhibitor
  • Decreased amount of extracellular Aβ 42 by neurons by treatment with a selective Aβ42-lowering agent
  • Increased Aβ42/40 ratio in neurons
  • Increased extracellular Aβ42 by neurons
Sporadic Alzheimer's Alzheimer's AD8K213 23434393
Astrocytes
  • Accumulated Aβ oligomers in astrocytes
  • Decrease in ROS in astrocytes after treatment with β-secretase inhibitor
  • Decreased amount of Aβ oligomers in astrocytes after treatment with β-secretase inhibitor
  • Decreased levels of binding protein (BiP) in astrocytes after treatment with β-secretase inhibitor
  • Increased ER stress in astrocytes
  • Increased ROS levels in basal conditions in astrocytes
  • Increased binding protein (BiP) levels in astrocytes
  • Increased oxidative stress in astrocytes
Neurons
  • Accumulation of Aβ oligomers in neurons
  • Decreased ROS in neurons after treatment with β-secretase inhibitor
  • Decreased ROS in neurons after treatment with β-secretase inhibitor
  • Decreased amount of Aβ-oligomers in neurons with β-secretase inhibitor treatment
  • Decreased levels of binding protein (BiP) in neurons after treatment with DHA
  • Decreased levels of binding protein (BiP) in neurons after treatment with β-secretase inhibitor
  • Increased ER stress in neurons
  • Increased ROS levels in basal conditions in neurons
  • Increased levels of binding protein (BiP) in neurons
  • Increased oxidative stress in neurons
  • Increased oxidative stress in neurons
Gene Disease Mutation Reference Gene Ontology & Molecular Pathways
Key:
Cell Type
APP Alzheimer's Duplication 22278060 None
APP Alzheimer's E693Δ 23434393
iPSCs
APP Alzheimer's V717L 23434393
iPSCs
APP Alzheimer's V717I 24524897 None
APP Alzheimer's Duplication 25285942 None
PSEN1 Alzheimer's A246E 21900357 None
PSEN1 Alzheimer's L166P 22510327 None
PSEN1 Alzheimer's A246E 24416243 None
PSEN1 Alzheimer's A246E 25285942 None
PSEN1 Alzheimer's H163R 25285942 None
PSEN1 Alzheimer's M146L 25285942 None
PSEN2 Alzheimer's N141I 21900357 None
Sporadic Alzheimer's Alzheimer's AD8K213 23434393
iPSCs