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Open Access
Peer-reviewed
Research Article
Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice
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Abigail R. Moye ,
Contributed equally to this work with: Abigail R. Moye, Nicola Bedoni, Carlo Rivolta, Visvanathan Ramamurthy
Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Visualization, Writing – original draft, Writing – review & editing
Affiliations Department of Ophthalmology, West Virginia University, Morgantown, United States of America, Department of Biochemistry, West Virginia University, Morgantown, United States of America
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Nicola Bedoni ,
Contributed equally to this work with: Abigail R. Moye, Nicola Bedoni, Carlo Rivolta, Visvanathan Ramamurthy
Roles Conceptualization, Data curation, Formal analysis, Methodology, Writing – original draft, Writing – review & editing
Affiliation Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Lausanne, Switzerland
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Jessica G. Cunningham,
Roles Data curation, Formal analysis, Writing – review & editing
Affiliation Rockefeller Neurosciences Institute, West Virginia University, Morgantown, WV, United States of America
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Urikhan Sanzhaeva,
Roles Data curation, Formal analysis
Affiliation Department of Biochemistry, West Virginia University, Morgantown, United States of America
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Eric S. Tucker,
Roles Data curation, Formal analysis, Writing – review & editing
Affiliation Rockefeller Neurosciences Institute, West Virginia University, Morgantown, WV, United States of America
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Peter Mathers,
Roles Data curation, Writing – review & editing
Affiliations Department of Ophthalmology, West Virginia University, Morgantown, United States of America, Department of Biochemistry, West Virginia University, Morgantown, United States of America, Rockefeller Neurosciences Institute, West Virginia University, Morgantown, WV, United States of America
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Virginie G. Peter,
Roles Writing – original draft
Affiliation Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Lausanne, Switzerland
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Mathieu Quinodoz,
Roles Data curation, Writing – review & editing
Affiliation Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Lausanne, Switzerland
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Liliana P. Paris,
Roles Data curation, Formal analysis, Project administration, Writing – original draft
Affiliation Department of Ophthalmology, Instituto de Oftalmologia Dr Gama Pinto, Lisbon, Portugal
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Luísa Coutinho-Santos,
Roles Data curation, Formal analysis, Writing – review & editing
Affiliation Department of Ophthalmology, Instituto de Oftalmologia Dr Gama Pinto, Lisbon, Portugal
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Pedro Camacho,
Roles Data curation, Formal analysis, Writing – review & editing
Affiliation Department of Ophthalmology, Instituto de Oftalmologia Dr Gama Pinto, Lisbon, Portugal
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Madeleine G. Purcell,
Roles Data curation, Formal analysis
Affiliation Department of Biology, Randolph-Macon College, Ashland, VA, United States of America
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Abbie C. Winkelmann,
Roles Data curation, Formal analysis
Affiliation Department of Biology, Randolph-Macon College, Ashland, VA, United States of America
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James A. Foster,
Roles Data curation, Formal analysis, Funding acquisition, Supervision, Writing – original draft, Writing – review & editing
Affiliation Department of Biology, Randolph-Macon College, Ashland, VA, United States of America
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Elena N. Pugacheva,
Roles Formal analysis, Methodology, Resources
Affiliation Department of Biochemistry, West Virginia University, Morgantown, United States of America
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Carlo Rivolta ,
Contributed equally to this work with: Abigail R. Moye, Nicola Bedoni, Carlo Rivolta, Visvanathan Ramamurthy
Roles Funding acquisition, Investigation, Project administration, Supervision, Writing – original draft, Writing – review & editing
* E-mail: carlo.rivolta@iob.ch (CR); ramamurthyv@mix.wvu.edu (VR)
Affiliations Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Lausanne, Switzerland, Department of Genetics and Genome Biology, University of Leicester, Leicester, United Kingdom, Clinical Research Center, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland, Department of Ophthalmology, University Hospital Basel, Switzerland
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Visvanathan Ramamurthy
Contributed equally to this work with: Abigail R. Moye, Nicola Bedoni, Carlo Rivolta, Visvanathan Ramamurthy
Roles Funding acquisition, Investigation, Project administration, Supervision, Writing – original draft
* E-mail: carlo.rivolta@iob.ch (CR); ramamurthyv@mix.wvu.edu (VR)
Affiliations Department of Ophthalmology, West Virginia University, Morgantown, United States of America, Department of Biochemistry, West Virginia University, Morgantown, United States of America, Rockefeller Neurosciences Institute, West Virginia University, Morgantown, WV, United States of America
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Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice
- Abigail R. Moye,
- Nicola Bedoni,
- Jessica G. Cunningham,
- Urikhan Sanzhaeva,
- Eric S. Tucker,
- Peter Mathers,
- Virginie G. Peter,
- Mathieu Quinodoz,
- Liliana P. Paris,
- Luísa Coutinho-Santos
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- Published: August 19, 2019
- https://doi.org/10.1371/journal.pgen.1008315