Nature Communications (Oct 2021)
Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5
- Peter T. A. Linders,
- Eveline C. F. Gerretsen,
- Angel Ashikov,
- Mari-Anne Vals,
- Rinse de Boer,
- Natalia H. Revelo,
- Richard Arts,
- Melissa Baerenfaenger,
- Fokje Zijlstra,
- Karin Huijben,
- Kimiyo Raymond,
- Kai Muru,
- Olga Fjodorova,
- Sander Pajusalu,
- Katrin Õunap,
- Martin ter Beest,
- Dirk Lefeber,
- Geert van den Bogaart
Affiliations
- Peter T. A. Linders
- Department of Tumor Immunology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center
- Eveline C. F. Gerretsen
- Department of Tumor Immunology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center
- Angel Ashikov
- Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center
- Mari-Anne Vals
- Children’s Clinic, Tartu University Hospital
- Rinse de Boer
- Molecular Cell Biology, Groningen Biomolecular Sciences and Biotechnology Institute, University of Groningen
- Natalia H. Revelo
- Department of Tumor Immunology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center
- Richard Arts
- Department of Tumor Immunology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center
- Melissa Baerenfaenger
- Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center
- Fokje Zijlstra
- Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center
- Karin Huijben
- Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center
- Kimiyo Raymond
- Department of Laboratory Medicine and Pathology, Mayo College of Medicine
- Kai Muru
- Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu
- Olga Fjodorova
- Department of Clinical Genetics, United Laboratories, Tartu University Hospital
- Sander Pajusalu
- Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu
- Katrin Õunap
- Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu
- Martin ter Beest
- Department of Tumor Immunology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center
- Dirk Lefeber
- Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center
- Geert van den Bogaart
- Department of Tumor Immunology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center
- DOI
- https://doi.org/10.1038/s41467-021-26534-y
- Journal volume & issue
-
Vol. 12,
no. 1
pp. 1 – 15
Abstract
Mutations in genes critical for proper intra-Golgi transport can cause human syndromes due to defects in glycosylation of proteins. Here, the authors identify a human variant of Syntaxin-5 that causes fatal multisystem disease and mislocalization of glycosyltransferases due to altered Golgi transport.
