A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism

Parkinson disease is caused by neuronal loss in the substantia nigra which manifests by abnormality of movement, muscle tone, and postural stability. Several genes have been implicated in the pathogenesis of Parkinson disease, but the underlying molecular basis is still unknown for ∼70% of the patie...

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Autori principali: Edvardson, Simon, Cinnamon, Yuval, Ta-Shma, Asaf, Shaag, Avraham, Yim, Yang-In, Zenvirt, Shamir, Jalas, Chaim, Lesage, Suzanne, Brice, Alexis, Taraboulos, Albert, Kaestner, Klaus H., Greene, Lois E., Elpeleg, Orly
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2012
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3341348/
https://ncbi.nlm.nih.gov/pubmed/22563501
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0036458
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