Mutation in ATG5 Reduces Autophagy and Leads to Ataxia With
1 Mutation in ATG5 Reduces Autophagy and Leads to 2 Ataxia with Developmental Delay 3 4 Authors: Myungjin Kim1,14, Erin Sandford2,14, Damian Gatica3,4, Yu Qiu5, Xu Liu3,4, Yumei 5 Zheng5, Brenda A. Schulman5,6, Jishu Xu7, Ian Semple1, Seung-Hyun Ro1, Boyoung Kim1, R. 6 Nehir Mavioglu8, Aslıhan Tolun8, Andras Jipa9,10, Szabolcs Takats9, Manuela Karpati9, Jun Z. 7 Li7,11, Zuhal Yapici12, Gabor Juhasz9,10, Jun Hee Lee1*, Daniel J. Klionsky3,4*, Margit 8 Burmeister2,7,11, 13* 9 10 Affiliations 11 1Department of Molecular and Integrative Physiology, University of Michigan, Ann Arbor, MI 12 48109, USA. 13 2Molecular & Behavioral Neuroscience Institute, University of Michigan, Ann Arbor, MI 48109, 14 USA. 15 3Department of Molecular, Cellular, and Developmental Biology, University of Michigan, Ann 16 Arbor, MI 48109, USA. 17 4Life Sciences Institute, University of Michigan, Ann Arbor, MI 48109, USA. 18 5Department of Structural Biology, St. Jude Children’s Research Hospital, Memphis, TN 38105, 19 USA. 20 6Howard Hughes Medical Institute, St. Jude Children’s Research Hospital, Memphis, TN 38105, 21 USA. 22 7Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA. 23 8Department of Molecular Biology and Genetics, Boğaziçi University, 34342 Istanbul, Turkey. 1 24 9Department of Anatomy, Cell and Developmental Biology, Eötvös Loránd University, Budapest 25 H-1117, Hungary. 26 10Institute of Genetics, Biological Research Centre, Hungarian Academy of Sciences, Szeged H- 27 6726, Hungary 28 11Department of Computational Medicine & Bioinformatics, University of Michigan, Ann Arbor, 29 MI 48109, USA. 30 12Department of Neurology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
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