Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS [MIM 270550]) is an early-onset neurodegenerative disorder caused by mutations in the SACS gene. Over 170 SACS mutations have been reported worldwide and are thought to cause loss of function of sacsin, a poorly characterized and mass...

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Vydáno v:Hum Mol Genet
Hlavní autoři: Larivière, Roxanne, Gaudet, Rébecca, Gentil, Benoit J., Girard, Martine, Conte, Talita Cristiane, Minotti, Sandra, Leclerc-Desaulniers, Kim, Gehring, Kalle, McKinney, R. Anne, Shoubridge, Eric A., McPherson, Peter S., Durham, Heather D., Brais, Bernard
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2015
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4291249/
https://ncbi.nlm.nih.gov/pubmed/25260547
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu491
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