Article
A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism.
PloS one - 1 Jan 2012
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
Abstract excerpt
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 pa...
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