AMPD2 Regulates GTP Synthesis and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder |
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| Authors: | Naiara Akizu,Vincent Cantagrel,Jana Schroth,Na Cai,Keith Vaux,Douglas McCloskey,Robert K. Naviaux,Jeremy Van Vleet,Ali G. Fenstermaker,Jennifer L. Silhavy,Judith S. Scheliga,Keiko Toyama,Hiroko Morisaki,Fatma M. Sonmez,Figen Celep,Azza Oraby,Maha S. Zaki,Raidah Al-Baradie,Eissa A. Faqeih,Mohammed A.M. Saleh,Emily Spencer,Rasim Ozgur Rosti,Eric Scott,Elizabeth Nickerson,Stacey Gabriel,Takayuki Morisaki,Edward W. Holmes,Joseph G. Gleeson |
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| Affiliation: | 1 Neurogenetics Laboratory, Institute for Genomic Medicine, Rady Children’s Hospital, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA;2 Department of Bioengineering, University of California, San Diego, La Jolla, CA 92093, USA;3 The Mitochondrial and Metabolic Disease Center, Departments of Medicine, Pediatrics, and Pathology, University of California, San Diego, La Jolla, CA 92093, USA;4 Glycotechnology Core Resource, University of California, San Diego, La Jolla, CA 92093, USA;5 Signal Transduction Program, Sanford-Burnham Medical Research Institute, La Jolla, CA 92037, USA;6 Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute and Department of Molecular Pathophysiology, Osaka University Graduate School of Pharmaceutical Sciences, Osaka 565-8565, Japan;7 Department of Pediatric Neurology, Turgut Ozal University, Ankara 06510, Turkey;8 Medical Biology Department, Karadeniz Technical University, Trabzon 61080, Turkey;9 Pediatric Neurology Department, Cairo University Children’s Hospital, Cairo 406, Egypt;10 Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt;11 Department of Pediatric Neurology, King Fahd Specialist Hospital, Dammam 31444, Kingdom of Saudi Arabia;12 Section of Medical Genetics, Department of Pediatrics, King Fahad Medical City, Children’s Hospital, Riyadh 11525, Kingdom of Saudi Arabia;13 The Broad Institute of MIT and Harvard, Cambridge, MA 02141, USA;14 Sanford Consortium for Regenerative Medicine, La Jolla, CA 92037, USA |
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