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Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood
Authors:F.-Nora Vögtle  Björn Brändl  Austin Larson  Manuela Pendziwiat  Marisa W. Friederich  Susan M. White  Alice Basinger  Cansu Kücükköse  Hiltrud Muhle  Johanna A. Jähn  Oliver Keminer  Katherine L. Helbig  Carolyn F. Delto  Lisa Myketin  Dirk Mossmann  Nils Burger  Noriko Miyake  Audrey Burnett  Ingo Helbig
Affiliation:1. Institute of Biochemistry and Molecular Biology, ZBMZ, Faculty of Medicine, University of Freiburg, Freiburg 79104, Germany;2. Department of Psychiatry and Psychotherapy, University Hospital Schleswig Holstein, Kiel 24105, Germany;3. Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO 80045, USA;4. Department of Neuropediatrics, Christian-Albrechts-University of Kiel, Kiel 24105, Germany;5. Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Melbourne, VIC 3052, Australia;6. Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia;7. Cook Children’s Physician Network, Department of Genetics, Fort Worth, TX 76102, USA;8. Faculty of Biology, University of Freiburg, Freiburg 79104, Germany;9. Fraunhofer-Institut für Molekularbiologie und Angewandte Ökologie IME, ScreeningPort, Hamburg 22525, Germany;10. Division of Neurology, The Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA;11. Rudolf Virchow Center for Experimental Biomedicine, University of Würzburg, Würzburg 97080, Germany;12. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan;13. Department of Pathology, University of Colorado, Aurora, CO 80045, USA;14. Adult Genetic Medicine, Royal Melbourne Hospital, Melbourne, VIC 3052, Australia;15. Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA;16. Max Planck Institute for Molecular Genetics, Berlin 14195, Germany
Abstract:
Keywords:mitochondrial presequence protease  mitochondrial targeting signal  mitochondrial protein biogenesis  mitochondrial disease  neurodegeneration
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