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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3341348/
https://www.ncbi.nlm.nih.gov/pubmed/22563501
http://dx.doi.org/10.1371/journal.pone.0036458

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3341348/
https://www.ncbi.nlm.nih.gov/pubmed/22563501
http://dx.doi.org/10.1371/journal.pone.0036458

Ejemplares similares