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...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: National Academy of Sciences 2012
Témata:
Biological Sciences
On-line přístup: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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky