Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay.

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Title: Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay.
Authors: Kim M; Department of Molecular and Integrative Physiology, University of Michigan, Ann Arbor, United States., Sandford E; Molecular and Behavioral Neuroscience Institute, University of Michigan, Ann Arbor, United States., Gatica D; Department of Molecular, Cellular, and Developmental Biology, University of Michigan, Ann Arbor, United States.; Life Sciences Institute, University of Michigan, Ann Arbor, United States., Qiu Y; Department of Structural Biology, St Jude Children's Research Hospital, Memphis, United States., Liu X; Department of Molecular, Cellular, and Developmental Biology, University of Michigan, Ann Arbor, United States.; Life Sciences Institute, University of Michigan, Ann Arbor, United States., Zheng Y; Department of Structural Biology, St Jude Children's Research Hospital, Memphis, United States., Schulman BA; Department of Structural Biology, St Jude Children's Research Hospital, Memphis, United States.; Howard Hughes Medical Institute, St. Jude Children's Research Hospital, Memphis, United States., Xu J; Department of Human Genetics, University of Michigan, Ann Arbor, United States., Semple I; Department of Molecular and Integrative Physiology, University of Michigan, Ann Arbor, United States., Ro SH; Department of Molecular and Integrative Physiology, University of Michigan, Ann Arbor, United States., Kim B; Department of Molecular and Integrative Physiology, University of Michigan, Ann Arbor, United States., Mavioglu RN; Department of Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey., Tolun A; Department of Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey., Jipa A; Institute of Genetics, Biological Research Centre, Hungarian Academy of Sciences, Szeged, Hungary.; Department of Anatomy, Cell and Developmental Biology, Eötvös Loránd University, Budapest, Hungary., Takats S; Department of Anatomy, Cell and Developmental Biology, Eötvös Loránd University, Budapest, Hungary., Karpati M; Department of Anatomy, Cell and Developmental Biology, Eötvös Loránd University, Budapest, Hungary., Li JZ; Department of Human Genetics, University of Michigan, Ann Arbor, United States.; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, United States., Yapici Z; Department of Neurology, Faculty of Medicine, Istanbul University, Istanbul, Turkey., Juhasz G; Institute of Genetics, Biological Research Centre, Hungarian Academy of Sciences, Szeged, Hungary.; Department of Anatomy, Cell and Developmental Biology, Eötvös Loránd University, Budapest, Hungary., Lee JH; Department of Molecular and Integrative Physiology, University of Michigan, Ann Arbor, United States., Klionsky DJ; Department of Molecular, Cellular, and Developmental Biology, University of Michigan, Ann Arbor, United States.; Life Sciences Institute, University of Michigan, Ann Arbor, United States., Burmeister M; Molecular and Behavioral Neuroscience Institute, University of Michigan, Ann Arbor, United States.; Department of Human Genetics, University of Michigan, Ann Arbor, United States.; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, United States.; Department of Psychiatry, University of Michigan, Ann Arbor, United States.
Source: ELife [Elife] 2016 Jan 26; Vol. 5. Date of Electronic Publication: 2016 Jan 26.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: eLife Sciences Publications, Ltd Country of Publication: England NLM ID: 101579614 Publication Model: Electronic Cited Medium: Internet ISSN: 2050-084X (Electronic) Linking ISSN: 2050084X NLM ISO Abbreviation: Elife Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:2050-084X
DOI:10.7554/eLife.12245