AFG3/YER017C Literature Guide Help

Other names published for AFG3: YTA10, AAA family ATPase AFG3, YER017C

AFG3 - Disease Gene Related (5)

ReferenceOther Genes Addressed
Pierson TM, et al.  (2011) Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases. PLoS Genet 7(10):e1002325
Di Bella D, et al.  (2010) Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. Nat Genet 42(4):313-21
Rugarli EI and Langer T  (2006) Translating m-AAA protease function in mitochondria to hereditary spastic paraplegia. Trends Mol Med 12(6):262-9
Atorino L, et al.  (2003) Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia. J Cell Biol 163(4):777-87
Casari G, et al.  (1998) Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 93(6):973-83