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 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
SHANK3 Phelan-McDermid Syndrome Deletion 24132240
Neurons
  • Decreased amount of excitatory synapses in neurons
  • Decreased amplitude of spontaneous excitatory post-synaptic currents in neurons
  • Decreased amplitude of spontaneous synaptic events in neurons
  • Decreased current size generation in response to focal application of AMPA in neurons
  • Decreased current size generation in response to focal application of NMDA in neurons
  • Decreased frequency of spontaneous excitatory post-synaptic currents in neurons
  • Decreased frequency of spontaneous synaptic events in neurons
  • Decreased input resistance after treatment with IGF1 in neurons
  • Impairment of AMPA-mediated synaptic transmission in neurons
  • Impairment of NMDA-mediated synaptic transmission in neurons
  • Increased amplitude of spontaneous excitatory post-synaptic currents after treatment with IGF1 in neurons
  • Increased current size generation in response to focal application of NMDA after treatment with IGF1 in neurons
  • Increased frequency of spontaneous excitatory post-synaptic currents after treatment with IGF1 in neurons
  • Increased input resistance in neurons
  • Increased rate of decay of NMDA-excitatory post-synaptic currents in neurons
  • Rescue of synaptic transmission after treatment with IGF1 in neurons
  • Restoration of the number of SYN1 HOMER1 puncta after treatment with IGF1 in neurons
  • Restored amplitude of evoked AMPA excitatory post-synaptic currents after treatment with IGF1 in neurons
  • Restored amplitude of evoked NMDA excitatory post-synaptic currents after treatment with IGF1 in neurons
iPSCs
  • Decreased production of neurons in iPSCs
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 L166P 22510327 None
SHANK3 Phelan-McDermid Syndrome Deletion 24132240 None