Metabolic and Organelle Morphology Defects in Mice and Human Patients Define Spinocerebellar Ataxia Type 7 as a Mitochondrial Disease

Metabolic and Organelle Morphology Defects in Mice and Human Patients Define Spinocerebellar Ataxia Type 7 as a Mitochondrial Disease

Summary: Spinocerebellar ataxia type 7 (SCA7) is a retinal-cerebellar degenerative disorder caused by CAG-polyglutamine (polyQ) repeat expansions in the ataxin-7 gene. As many SCA7 clinical phenotypes occur in mitochondrial disorders, and magnetic resonance spectroscopy of patients revealed altered...

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Bibliographic Details
Main Authors: Jacqueline M. Ward, Colleen A. Stoyas, Pawel M. Switonski, Farid Ichou, Weiwei Fan, Brett Collins, Christopher E. Wall, Isaac Adanyeguh, Chenchen Niu, Bryce L. Sopher, Chizuru Kinoshita, Richard S. Morrison, Alexandra Durr, Alysson R. Muotri, Ronald M. Evans, Fanny Mochel, Albert R. La Spada
Format: Article
Language:English
Published: Elsevier 2019-01-01
Series:Cell Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S2211124719300373

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http://www.sciencedirect.com/science/article/pii/S2211124719300373

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