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. 2018 Sep 5;8(9):180138. doi: 10.1098/rsob.180138

Table 3.

List of reports on modelling HD and PD using 2D human iPSC-based systems.

disorder mutation phenotypes described reference
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]