a deleterious mutation in dnajc6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism有害的突变在dnajc6编码neuronal-specific clathrin-uncoating co-chaperone auxilin,与青少年震颤麻痹.pdfVIP

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a deleterious mutation in dnajc6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism有害的突变在dnajc6编码neuronal-specific clathrin-uncoating co-chaperone auxilin,与青少年震颤麻痹.pdf

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a deleterious mutation in dnajc6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism有害的突变在dnajc6编码neuronal-specific clathrin-uncoating co-chaperone auxilin,与青少年震颤麻痹

A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism 1 1 1 1 2 1 Simon Edvardson , Yuval Cinnamon , Asaf Ta-Shma , Avraham Shaag , Yang-In Yim , Shamir Zenvirt , 3 4 4 5 6 2 Chaim Jalas , Suzanne Lesage , Alexis Brice , Albert Taraboulos , Klaus H. Kaestner , Lois E. Greene , Orly Elpeleg1* 1 Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel, 2 Laboratory of Cell Biology, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland, United States of America, 3 Bonei Olam, Center for Rare Jewish Genetic Disorders, ´ ˆ ` Brooklyn, New York, United States of America, 4 CRICM, University Pierre et Marie Curie, INSERM, UMR_S975, CNRS UMR 7225, Hospital Pitie-Salpetriere, Paris, France, 5 IMRIC, The Hebrew University-Hadassah Medical School, Jerusalem, Israel, 6 Department of Genetics, Institute for Diabetes, Obesity and Metabolism, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America 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 pa