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ATXN1-CIC Complex Is the Primary Driver of Cerebellar Pathology in Spinocerebellar Ataxia Type 1 through a Gain-of-Function Mechanism
Authors:Maxime WC Rousseaux  Tyler Tschumperlin  Hsiang-Chih Lu  Elizabeth P Lackey  Vitaliy V Bondar  Ying-Wooi Wan  Qiumin Tan  Carolyn J Adamski  Jillian Friedrich  Kirk Twaroski  Weili Chen  Jakub Tolar  Christine Henzler  Ajay Sharma  Aleksandar Baji?  Tao Lin  Lisa Duvick  Zhandong Liu  Harry T Orr
Institution:1. Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital, Baylor College of Medicine, Houston, TX 77030, USA;2. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA;3. Institute for Translational Neuroscience, University of Minnesota, Minneapolis, MN 55455, USA;4. Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN 55455, USA;5. Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA;6. Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA;7. Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX 77030, USA;8. Department of Pediatrics, Stem Cell Institute, University of Minnesota, Minneapolis, MN 55455, USA;9. RISS Bioinformatics, Minnesota Supercomputing Institute, University of Minnesota, Minneapolis, MN 55455, USA;10. Howard Hughes Medical Institute, Houston, TX 77030, USA
Abstract:
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  • Keywords:ATXN1  CIC  neurodegeneration  ataxia  cerebellum  toxicity  polyglutamine  RAN translation  RNA toxicity
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