Huntington's disease |
Huntington's disease (HD) |
HTT (42/44; 39/42; 17/45 CAG repeats) |
increased lysosomal activity |
Camnasio et al. [137] |
HD |
HTT (60; 109 CAG repeats) |
altered gene expression of neurodevelopmental pathways and synaptic homeostasis |
HD iPSC Consortium 2017 [73] |
Parkinson's disease |
Parkinson's disease (PD) |
LRRK2 (G2019S) |
increased susceptibility to oxidative stress |
Nguyen et al. [68] |
PD |
LRRK2 (G2019S) |
increased susceptibility to proteasomal stress |
Liu et al. [138] |
PD |
LRRK2 (G2019S) |
increased susceptibility to oxidative and mitochondrial stress; diminished neurite outgrowth |
Reinhardt et al. [139] |
PD |
GBA (RecNcil; L444P; N370S) |
autophagic/lysosomal deficiency; impaired Ca2+ homeostasis |
Schondorf et al. [140] |
PD |
GBA (N370S) |
DA homeostasis defects |
Woodard et al. [141] |
PD |
PARK2 (various mutations) |
impaired dopaminergic differentiation; mitochondrial alterations |
Shaltouki et al. [142] |
PD |
PARK2: EX3-5DEL; PARK2: EX3D EL |
reduced complexity of neuronal processes |
Ren et al. [143] |
PD |
PARK7 (c. 192G > C) |
mitochondrial and lysosomal dysfunction |
Burbulla et al. [144] |
PD |
SNCA (G209A) |
n.a. |
Soldner et al. [145] |
PD |
SNCA triplication |
increased susceptibility to oxidative stress |
Byers et al. [146] |
PD |
SNCA (G209A) |
increased susceptibility to oxidative and nitrosative stress |
Ryan et al. [147] |
PD |
SNCA (G209A); SNCA triplication |
increased nitrosative stress; ER stress |
Chung et al. [148] |
PD |
SNCA triplication |
increased susceptibility to oxidative stress |
Flierl et al. [149] |
PD |
SNCA triplication |
impaired neuronal differentiation; compromised neurite outgrowth |
Oliveira et al. [150] |
PD |
SNCA (G209A) |
defective synaptic connectivity; axonal neuropathology; altered expression of synaptic transcripts |
Kouroupi et al. [70] |
PD |
SNCA (G209A) |
fragmented mitochondria and αSyn deposits at mitochondrial membranes in response to cardiolipin |
Ryan et al. [151] |