Article
Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay.
eLife - 26 Jan 2016
Kim Myungjin, Sandford Erin, Gatica Damian, Qiu Yu, Liu Xu, Zheng Yumei, Schulman Brenda A, Xu Jishu, Semple Ian, Ro Seung-Hyun, Kim Boyoung, Mavioglu R Nehir, Tolun Aslıhan, Jipa Andras, Takats Szabolcs, Karpati Manuela, Li Jun Z, Yapici Zuhal, Juhasz Gabor, Lee Jun Hee, Klionsky Daniel J, Burmeister Margit
Abstract excerpt
Autophagy is required for the homeostasis of cellular material and is proposed to be involved in many aspects of health. Defects in the autophagy pathway have been observed in neurodegenerative disorders; however, no genetically-inherited pathogenic mutations in any of the core autophagy-related (ATG) genes have been reported in human patients to date. We identified a homozygous missense mutation, changing a...
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