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. 2019 Sep 11;3(3):NS20180134. doi: 10.1042/NS20180134

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]