Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures

• Lore Pottie,

  Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Project administration, Validation, Visualization, Writing – original draft, Writing – review & editing

  Affiliations Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium, Department of Biomolecular Medicine, Ghent University, Ghent, Belgium

  https://orcid.org/0000-0001-5102-975X

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• Wouter Van Gool,

  Roles Data curation, Formal analysis, Software, Writing – review & editing

  Affiliations Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium, Department of Biomolecular Medicine, Ghent University, Ghent, Belgium

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• Michiel Vanhooydonck,

  Roles Investigation, Writing – review & editing

  Affiliations Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium, Department of Biomolecular Medicine, Ghent University, Ghent, Belgium

  https://orcid.org/0000-0001-7350-9009

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• Franz-Georg Hanisch,

  Roles Investigation, Resources, Writing – review & editing

  Affiliation Institute of Biochemistry II, Medical Faculty, University of Cologne, Cologne, Germany

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• Geert Goeminne,

  Roles Investigation, Resources, Writing – review & editing

  Affiliations VIB Metabolomics Core Ghent, Ghent, Belgium, Department of Plant Biotechnology and Bioinformatics, Ghent University, Ghent, Belgium

  https://orcid.org/0000-0002-0337-2999

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• Andreja Rajkovic,

  Roles Resources, Writing – review & editing

  Affiliation Department of Food technology, Safety and Health, Faculty of Bioscience Engineering, University of Ghent, Ghent, Belgium

  https://orcid.org/0000-0003-1062-0564

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• Paul Coucke,

  Roles Funding acquisition, Resources, Writing – review & editing

  Affiliations Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium, Department of Biomolecular Medicine, Ghent University, Ghent, Belgium

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• Patrick Sips ,

  Contributed equally to this work with: Patrick Sips, Bert Callewaert

  Roles Conceptualization, Supervision, Writing – review & editing

  Affiliations Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium, Department of Biomolecular Medicine, Ghent University, Ghent, Belgium

  https://orcid.org/0000-0001-9241-5980

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• Bert Callewaert

  Contributed equally to this work with: Patrick Sips, Bert Callewaert

  Roles Conceptualization, Funding acquisition, Project administration, Resources, Supervision, Writing – review & editing

  * E-mail: Bert.Callewaert@Ugent.be

  Affiliations Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium, Department of Biomolecular Medicine, Ghent University, Ghent, Belgium

  https://orcid.org/0000-0002-9743-4205

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