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TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy.

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第一作者： Austin A,Larson

第一单位： Department of Pediatrics, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA.

作者： Austin A,Larson ^[1] ; Peter R,Baker ^[1] ; Miroslav P,Milev ^[2] ; Craig A,Press ^[1] ; Ronald J,Sokol ^[1] ; Mary O,Cox ^[3] ; Jacqueline K,Lekostaj ^[3] ; Aaron A,Stence ^[3] ; Aaron D,Bossler ^[3] ; Jennifer M,Mueller ^[4] ; Keshika,Prematilake ^[2] ; Thierry Fotsing,Tadjo ^[2] ; Charles A,Williams ^[4] ; Michael,Sacher ^[5] ; Steven A,Moore ^[6]

作者单位： Department of Pediatrics, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA. ^[1] Department of Biology, Concordia University, Montreal, Canada. ^[2] Department of Pathology Carver College of Medicine, The University of Iowa, Iowa City, IA, USA. ^[3] Division of Genetics and Metabolism, University of Florida College of Medicine, Gainesville, FL, USA. ^[4] Department of Biology, Concordia University, Montreal, Canada. michael.sacher@concordia.ca.;Department of Anatomy and Cell Biology, McGill University, Montreal, Canada. michael.sacher@concordia.ca. ^[5] Department of Pathology Carver College of Medicine, The University of Iowa, Iowa City, IA, USA. steven-moore@uiowa.edu. ^[6]

关键词 Dystroglycan Dystroglycanopathy GOSR2 Glycosylation Golgi Membrane traffic Muscular dystrophy TRAPPC11