Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.

Autor: Wilson MP; Laboratory for Molecular Diagnosis, Center for Human Genetics, KU Leuven, 3000 Leuven, Belgium. Electronic address: matthew.wilson@kuleuven.be., Garanto A; Department of Pediatrics, Amalia Children's Hospital, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 Nijmegen, the Netherlands; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 Nijmegen, the Netherlands., Pinto E Vairo F; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA., Ng BG; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037, USA., Ranatunga WK; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA., Ventouratou M; Laboratory for Molecular Diagnosis, Center for Human Genetics, KU Leuven, 3000 Leuven, Belgium., Baerenfaenger M; Department of Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, 6525 Nijmegen, the Netherlands., Huijben K; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, 6525 Nijmegen, the Netherlands., Thiel C; Center for Child and Adolescent Medicine, Department Pediatrics I, Heidelberg University, 69120 Heidelberg, Germany., Ashikov A; Department of Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, 6525 Nijmegen, the Netherlands., Keldermans L; Laboratory for Molecular Diagnosis, Center for Human Genetics, KU Leuven, 3000 Leuven, Belgium., Souche E; Laboratory for Molecular Diagnosis, Center for Human Genetics, KU Leuven, 3000 Leuven, Belgium., Vuillaumier-Barrot S; AP-HP, Biochimie Métabolique et Cellulaire, Hôpital Bichat-Claude Bernard, and Université de Paris, Faculté de Médecine Xavier Bichat, INSERM U1149, CRI, Paris, France., Dupré T; AP-HP, Biochimie Métabolique et Cellulaire, Hôpital Bichat-Claude Bernard, and Université de Paris, Faculté de Médecine Xavier Bichat, INSERM U1149, CRI, Paris, France., Michelakakis H; Department Enzymology and Cellular Function, Institute of Child Health, 11527 Athens, Greece., Fiumara A; Pediatric Unit, Regional Referral Center for Inherited Metabolic Disease, Department of Clinical and Experimental Medicine University of Catania, 95123 Catania, Italy., Pitt J; Victorian Clinical Genetics Service, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia., White SM; Victorian Clinical Genetics Service, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3010, Australia., Lim SC; Victorian Clinical Genetics Service, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia., Gallacher L; Victorian Clinical Genetics Service, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3010, Australia., Peters H; Department of Metabolic Medicine, Royal Children's Hospital, Melbourne, VIC 3052, Australia., Rymen D; Department of Pediatrics, Center for Metabolic Diseases, University Hospitals Leuven, 3000 Leuven, Belgium., Witters P; Department of Pediatrics, Center for Metabolic Diseases, University Hospitals Leuven, 3000 Leuven, Belgium., Ribes A; Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, 08036 Barcelona, Spain., Morales-Romero B; Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, 08036 Barcelona, Spain., Rodríguez-Palmero A; Department of Pediatrics, Paediatric Neurology Unit, University Hospital Germans Trias i Pujol, CIBERER, 08916 Badalona, Spain., Ballhausen D; Pediatric Metabolic Unit, Pediatrics, Woman-Mother-Child Department, University of Lausanne and University Hospital of Lausanne, 1011 Lausanne, Switzerland., de Lonlay P; Necker Hospital, APHP, Reference Center for Inborn Errors of Metabolism, University of Paris, Paris, France; Inserm UMR_S1163, Institut Imagine, 75015 Paris, France., Barone R; Child Neuropsychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, 95124 Catania, Italy., Janssen MCH; Department of Pediatrics, Amalia Children's Hospital, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 Nijmegen, the Netherlands; Department of Internal Medicine, Radboud Center for Mitochondrial Medicine, Radboud University, Nijmegen Medical Center, 65225 Nijmegen, the Netherlands., Jaeken J; Department of Pediatrics, Center for Metabolic Diseases, University Hospitals Leuven, 3000 Leuven, Belgium., Freeze HH; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037, USA., Matthijs G; Laboratory for Molecular Diagnosis, Center for Human Genetics, KU Leuven, 3000 Leuven, Belgium., Morava E; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Metabolic Medicine, Royal Children's Hospital, Melbourne, VIC 3052, Australia., Lefeber DJ; Department of Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, 6525 Nijmegen, the Netherlands; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, 6525 Nijmegen, the Netherlands. Electronic address: dirk.lefeber@radboudumc.nl.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2021 Nov 04; Vol. 108 (11), pp. 2130-2144. Date of Electronic Publication: 2021 Oct 14.

Slc26a9 is inhibited by the R-region of the cystic fibrosis transmembrane conductance regulator via the STAS domain.

Autor: Chang MH; Department of Physiology and Biophysics, Case Western Reserve University, Cleveland, Ohio 44106; Department of Physiology and Biomedical Engineering, Mayo Clinic College of Medicine, Rochester, Minnesota 55905., Plata C; Department of Physiology and Biophysics, Case Western Reserve University, Cleveland, Ohio 44106; Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, México City 14000, Mexico., Sindic A; Department of Physiology and Biophysics, Case Western Reserve University, Cleveland, Ohio 44106; Department of Physiology and Biomedical Engineering, Mayo Clinic College of Medicine, Rochester, Minnesota 55905., Ranatunga WK; Department of Physiology and Biomedical Engineering, Mayo Clinic College of Medicine, Rochester, Minnesota 55905., Chen AP; Department of Physiology and Biomedical Engineering, Mayo Clinic College of Medicine, Rochester, Minnesota 55905., Zandi-Nejad K; Renal Division, Brigham and Women's Hospital, Boston, Massachusetts 02115., Chan KW; Department of Physiology and Biophysics, Case Western Reserve University, Cleveland, Ohio 44106., Thompson J; Department of Physiology and Biomedical Engineering, Mayo Clinic College of Medicine, Rochester, Minnesota 55905., Mount DB; Renal Division, Brigham and Women's Hospital, Boston, Massachusetts 02115; Renal Division, Veterans Affairs Boston Healthcare System, West Roxbury, Massachusetts 02132., Romero MF; Department of Physiology and Biophysics, Case Western Reserve University, Cleveland, Ohio 44106; Department of Physiology and Biomedical Engineering, Mayo Clinic College of Medicine, Rochester, Minnesota 55905. Electronic address: romero.michael@mayo.edu.

Publikováno v: The Journal of biological chemistry [J Biol Chem] 2009 Oct 09; Vol. 284 (41), pp. 28306-28318. Date of Electronic Publication: 2009 Jul 30.