Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a childhood-onset neurological disease resulting from mutations in the SACS gene encoding sacsin, a 4,579-aa protein of unknown function. Originally identified as a founder disease in Québec, ARSACS is now recognized worldwide. Pr...

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Detalhes bibliográficos
Main Authors: Girard, Martine, Larivière, Roxanne, Parfitt, David A., Deane, Emily C., Gaudet, Rebecca, Nossova, Nadya, Blondeau, Francois, Prenosil, George, Vermeulen, Esmeralda G. M., Duchen, Michael R., Richter, Andrea, Shoubridge, Eric A., Gehring, Kalle, McKinney, R. Anne, Brais, Bernard, Chapple, J. Paul, McPherson, Peter S.
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2012
Assuntos:
Biological Sciences
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3277168/
https://ncbi.nlm.nih.gov/pubmed/22307627
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1113166109
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