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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 W.C. 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 Bajić  Tao Lin  Lisa Duvick  Zhandong Liu  Harry T. Orr
Affiliation: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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