Simon Edvardson Yuval Cinnamon Asaf Ta-Shma Avraham Shaag Yang-In Yim Shamir Zenvirt Chaim Jalas Suzanne Lesage Alexis Brice Albert Taraboulos Klaus H Kaestner Lois E Greene Orly Elpeleg
10.1371/journal.pone.0036458
PLoS One
2012;7(5):e36458.
CC BY
https://pubmed.ncbi.nlm.nih.gov/22563501/
Auxilins / genetics HSP40 Heat-Shock Proteins / genetics Mutation Parkinsonian Disorders / genetics
Auxilins / genetics HSP40 Heat-Shock Proteins / genetics Mutation Parkinsonian Disorders / genetics Case Reports Research Support, Non-U.S. Gov't Adolescent Auxilins / metabolism Base Sequence Clathrin / metabolism DNA Mutational Analysis / methods Family Health HSP40 Heat-Shock Proteins / metabolism Humans Male Molecular Chaperones / genetics Molecular Chaperones / metabolism Neurons / metabolism Pedigree Auxilins Clathrin DNAJC6 protein, human HSP40 Heat-Shock Proteins Molecular Chaperones
PMC3341348
22563501
A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism
2012