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

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 energy me...

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Detalles Bibliográficos
Autores principales: Ward, Jacqueline M., Stoyas, Colleen A., Switonski, Pawel M., Ichou, Farid, Fan, Weiwei, Collins, Brett, Wall, Christopher E., Adanyeguh, Isaac, Niu, Chenchen, Sopher, Bryce L., Kinoshita, Chizuru, Morrison, Richard S., Durr, Alexandra, Muotri, Alysson R., Evans, Ronald M., Mochel, Fanny, La Spada, Albert R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6420346/
https://www.ncbi.nlm.nih.gov/pubmed/30699348
http://dx.doi.org/10.1016/j.celrep.2019.01.028

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