TY - GEN AU - Akizu,Naiara AU - Cantagrel,Vincent AU - Schroth,Jana AU - Cai,Na AU - Vaux,Keith AU - McCloskey,Douglas AU - Naviaux,Robert K AU - Van Vleet,Jeremy AU - Fenstermaker,Ali G AU - Silhavy,Jennifer L AU - Scheliga,Judith S AU - Toyama,Keiko AU - Morisaki,Hiroko AU - Sonmez,Fatma M AU - Celep,Figen AU - Oraby,Azza AU - Zaki,Maha S AU - Al-Baradie,Raidah AU - Faqeih,Eissa A AU - Saleh,Mohammed A M AU - Spencer,Emily AU - Rosti,Rasim Ozgur AU - Scott,Eric AU - Nickerson,Elizabeth AU - Gabriel,Stacey AU - Morisaki,Takayuki AU - Holmes,Edward W AU - Gleeson,Joseph G TI - AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder SN - 1097-4172 PY - 2013///1028 KW - AMP Deaminase KW - chemistry KW - Animals KW - Brain Stem KW - pathology KW - Cerebellum KW - Child KW - Female KW - Guanosine Triphosphate KW - metabolism KW - Humans KW - Male KW - Mice KW - Mice, Knockout KW - Mutation KW - Neural Stem Cells KW - Olivopontocerebellar Atrophies KW - genetics KW - Protein Biosynthesis KW - Purines KW - biosynthesis KW - Saccharomyces cerevisiae KW - enzymology N1 - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't UR - https://doi.org/10.1016/j.cell.2013.07.005 ER -