mutant parkin impairs mitochondrial function and morphology in human fibroblasts突变帕金损害人类成纤维细胞线粒体功能和形态.pdfVIP

Mutant Parkin Impairs Mitochondrial Function and Morphology in Human Fibroblasts ¨ 1,2. 1. 1 1 2 Anne Grunewald , Lisa Voges , Aleksandar Rakovic , Meike Kasten , Himesha Vandebona , Claudia 3 1 1 1 4 Hemmelmann , Katja Lohmann , Slobodanka Orolicki , Alfredo Ramirez , Anthony H. V. Schapira , 5 2 1 Peter P. Pramstaller , Carolyn M. Sue , Christine Klein * ¨ ¨ 1 Section of Clinical and Molecular Neurogenetics, Department of Neurology, University of Lubeck, Lubeck, Germany, 2 Department of Neurogenetics, Kolling Institute of Medical Research, Royal North Shore Hospital and University of Sydney, Sydney, New South Wales, Australia, 3 Institute for Medical Biometry and Statistics, University of ¨ ¨ Lubeck, Lubeck, Germany, 4 Department of Clinical Neurosciences, Institute of Neurology, University College London, London, United Kingdom, 5 Institute of Genetic Medicine, European Academy, Bolzano, Italy Abstract Background: Mutations in Parkin are the most common cause of autosomal recessive Parkinson disease (PD). The mitochondrially localized E3 ubiquitin-protein ligase Parkin has been reported to be involved in respiratory chain function and mitochondrial dynamics. More recent publications also described a link between Parkin and mitophagy. Methodology/Principal Findings: In this study, we investigated the impact of Parkin mutations on mitocho