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

Edvardson, Simon; Cinnamon, Yuval; Ta‐Shma, Asaf; Shaag, Avraham; Yim, Yang-In; Zenvirt, Shamir; Jalas, Chaim; Lesage, Suzanne; Brice, Alexis; Taraboulos, Albert; H. Kaestner, Klaus; E. Greene, Lois; Elpeleg, Orly

doi:10.1371/journal.pone.0036458

Public

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

Published in PLoS ONE • May 1, 2012

Authors:

Simon Edvardson

Yuval Cinnamon

Asaf Ta‐Shma

Abstract

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...

Subject

Clathrin

Biology

Parkinsonism

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