CCG•CGG interruptions in high‐penetrance SCA8 families increase RAN translation and protein toxicity

Author:

Perez Barbara A12,Shorrock Hannah K12ORCID,Banez‐Coronel Monica12,Zu Tao12ORCID,Romano Lisa EL12,Laboissonniere Lauren A12,Reid Tammy12,Ikeda Yoshio3,Reddy Kaalak4ORCID,Gomez Christopher M5ORCID,Bird Thomas67,Ashizawa Tetsuo8ORCID,Schut Lawrence J9,Brusco Alfredo1011ORCID,Berglund J Andrew14,Hasholt Lis F12,Nielsen Jorgen E13ORCID,Subramony SH114,Ranum Laura PW121415ORCID

Affiliation:

1. Center for NeuroGenetics University of Florida Gainesville FL USA

2. Department of Molecular Genetics and Microbiology University of Florida Gainesville FL USA

3. Department of Neurology Gunma University Maebashi Japan

4. RNA Institute University at Albany–SUNY Albany NY USA

5. Department of Neurology University of Chicago Chicago IL USA

6. Department of Neurology University of Washington Seattle WA USA

7. Geriatrics Research Section VA Puget Sound Health Care System Seattle WA USA

8. Department of Neurology Houston Methodist Research Institute Houston TX USA

9. Department of Neurology University of Minnesota Minneapolis MN USA

10. Department of Medical Sciences University of Torino Torino Italy

11. Medical Genetics Units “Città della Salute e della Scienza” University Hospital Torino Italy

12. Institute of Cellular and Molecular Medicine University of Copenhagen Copenhagen Denmark

13. Department of Neurology Rigshospitalet University of Copenhagen Copenhagen Denmark

14. McKnight Brain Institute University of Florida Gainesville FL USA

15. Genetics Institute University of Florida Gainesville FL USA

Funder

National Ataxia Foundation

Office of Extramural Research, National Institutes of Health

Publisher

EMBO

Subject

Molecular Medicine

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