A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation.

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第一作者： Simon Julius,Mayr

第一单位： Institute of Biochemistry, Department of Chemistry, University of Cologne, Zülpicher Str. 47, 50674, Köln, Germany.

作者： Simon Julius,Mayr ^[1] ; Jörn Oliver,Sass ^[2] ; Julia,Vry ^[3] ; Janbernd,Kirschner ^[3] ; Irina,Mader ^[4] ; Jan-Bernd,Hövener ^[5] ; Jochen,Reiss ^[6] ; José Angel,Santamaria-Araujo ^[7] ; Günter,Schwarz ^[1] ; Sarah Catharina,Grünert ^[8]

作者单位： Institute of Biochemistry, Department of Chemistry, University of Cologne, Zülpicher Str. 47, 50674, Köln, Germany. ^[1] Bioanalytics & Biochemistry, Department of Natural Science, Bonn-Rhein Sieg University of Applied Sciences, Rheinbach, Germany. ^[2] Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Medical Center - University of Freiburg, Freiburg, Germany. ^[3] Faculty of Medicine, Department of Neuroradiology, University of Freiburg, Freiburg, Germany. ^[4] Department of Radiology, Medical Physics, Faculty of Medicine, Medical Center - University of Freiburg, University of Freiburg, Freiburg, Germany. ^[5] Section for Biomedical Imaging and MOIN CC, University Medical Center Schleswig Holstein, University of Kiel, Kiel, Germany. ^[6] Institut für Humangenetik, Universität Göttingen, Göttingen, Germany. ^[7] Institute of Biochemistry, Department of Chemistry, University of Cologne, Zülpicher Str. 47, 50674, Köln, Germany. gschwarz@uni-koeln.de. ^[8] Center for Molecular Medicine Cologne), University of Cologne, Cologne, Germany. gschwarz@uni-koeln.de. ^[9] Department of General Pediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Center - University of Freiburg, Mathildenstr. 1, 79106, Freiburg, Germany. sarah.gruenert@uniklinik-freiburg.de. ^[10]

关键词 Kozak-sequence MOCS1 Moco deficiency Molybdenum cofactor S-sulfocysteine Sulfite oxidase Urothione cPMP