Nature Communications (May 2016)
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation
- Eric J. R. Jansen,
- Sharita Timal,
- Margret Ryan,
- Angel Ashikov,
- Monique van Scherpenzeel,
- Laurie A. Graham,
- Hanna Mandel,
- Alexander Hoischen,
- Theodore C. Iancu,
- Kimiyo Raymond,
- Gerry Steenbergen,
- Christian Gilissen,
- Karin Huijben,
- Nick H. M. van Bakel,
- Yusuke Maeda,
- Richard J. Rodenburg,
- Maciej Adamowicz,
- Ellen Crushell,
- Hans Koenen,
- Darius Adams,
- Julia Vodopiutz,
- Susanne Greber-Platzer,
- Thomas Müller,
- Gregor Dueckers,
- Eva Morava,
- Jolanta Sykut-Cegielska,
- Gerard J. M. Martens,
- Ron A. Wevers,
- Tim Niehues,
- Martijn A. Huynen,
- Joris A. Veltman,
- Tom H. Stevens,
- Dirk J. Lefeber
Affiliations
- Eric J. R. Jansen
- Department of Molecular Animal Physiology, Donders Institute for Brain, Cognition and Behaviour, Centre for Neuroscience and Radboud Institute for Molecular Life Sciences, Faculty of Science, Radboud University
- Sharita Timal
- Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center
- Margret Ryan
- Department of Chemistry and Biochemistry, Institute of Molecular Biology, University of Oregon
- Angel Ashikov
- Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center
- Monique van Scherpenzeel
- Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center
- Laurie A. Graham
- Department of Chemistry and Biochemistry, Institute of Molecular Biology, University of Oregon
- Hanna Mandel
- Metabolic Unit, Rambam Health Care Center, Rappaport School of Medicine, Technion
- Alexander Hoischen
- Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center
- Theodore C. Iancu
- The Milman-David Biomedical Research Unit
- Kimiyo Raymond
- Department of Laboratory Medicine and Pathology, Mayo College of Medicine
- Gerry Steenbergen
- Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center
- Christian Gilissen
- Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center
- Karin Huijben
- Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center
- Nick H. M. van Bakel
- Department of Molecular Animal Physiology, Donders Institute for Brain, Cognition and Behaviour, Centre for Neuroscience and Radboud Institute for Molecular Life Sciences, Faculty of Science, Radboud University
- Yusuke Maeda
- Research Institute for Microbial Diseases, Osaka University
- Richard J. Rodenburg
- Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center
- Maciej Adamowicz
- Protein Laboratory, Children’s Memorial Health Institute
- Ellen Crushell
- Temple Street Children’s University Hospital
- Hans Koenen
- Department of Laboratory Medicine, Medical Immunology, Radboud University Medical Center
- Darius Adams
- Personalized Genomic Medicine Pediatric Genetics and Metabolism Goryeb Children’s Hospital
- Julia Vodopiutz
- Department of Pediatrics and Adolescent Medicine, Medical University of Vienna
- Susanne Greber-Platzer
- Department of Pediatrics and Adolescent Medicine, Medical University of Vienna
- Thomas Müller
- Department of Pediatrics I, Medical University of Innsbruck
- Gregor Dueckers
- HELIOS Kliniken Krefeld, Children’s Hospital, Lutherplatz 40
- Eva Morava
- Department of Pediatrics, Tulane University Medical School
- Jolanta Sykut-Cegielska
- Screening Department, Institute of Mother and Child
- Gerard J. M. Martens
- Department of Molecular Animal Physiology, Donders Institute for Brain, Cognition and Behaviour, Centre for Neuroscience and Radboud Institute for Molecular Life Sciences, Faculty of Science, Radboud University
- Ron A. Wevers
- Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center
- Tim Niehues
- HELIOS Kliniken Krefeld, Children’s Hospital, Lutherplatz 40
- Martijn A. Huynen
- Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center
- Joris A. Veltman
- Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center
- Tom H. Stevens
- Department of Chemistry and Biochemistry, Institute of Molecular Biology, University of Oregon
- Dirk J. Lefeber
- Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center
- DOI
- https://doi.org/10.1038/ncomms11600
- Journal volume & issue
-
Vol. 7,
no. 1
pp. 1 – 13
Abstract
Here, Dirk Lefeber and colleagues identify functional mutations in ATP6AP1 encoding Ac45. The authors show that Ac45 is the functional ortholog of yeast V-ATPase assembly factor Voa1 and provide evidence for tissue-specific Ac45 processing, associated with the clinical phenotype of immunodeficiency, hepatopathy, and neurocognitive abnormalities.
