Table 2. Disease-associated mutations in human core ATG genes.
Gene | Yeast homologue | Disease | Reference |
---|---|---|---|
WDR45 | Atg18/Atg21 | NBIA | [81] |
WDR45 | Atg18/Atg21 | SENDA (static encephalopathy of childhood with neurodegeneration in adulthood) | [82] |
WDR45 | Atg18/Atg21 | BPAN (β-propeller protein-associated neurodegeneration) | [83,84] |
ATG5 | Atg5 | Congenital ataxia, mental detardation, developmental delay | [85] |