A new mouse model of Charcot-Marie-Tooth 2J neuropathy replicates human axonopathy and suggest alteration in axo-glia communication

• Ghjuvan’Ghjacumu Shackleford ,

  Roles Conceptualization, Formal analysis, Funding acquisition, Investigation, Methodology, Supervision, Validation, Visualization, Writing – original draft, Writing – review & editing

  * E-mail: shackleford.ghjuvanghjacumu@hsr.it (GGS); mlfeltri@buffalo.edu (MLF)

  Affiliations Department of Neurology, Institute for Myelin and Glia Exploration, Jacobs School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, New York, United States of America, Department of Biochemistry, Institute for Myelin and Glia Exploration, Department Biochemistry and Neurology, Jacobs School of Medicine and Biomedical Sciences, State University of New York at Buffalo, New York, United States of America, Biology of Myelin Unit, Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Milan, Italy

  https://orcid.org/0000-0001-8835-9453

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• Leandro N. Marziali,

  Roles Investigation

  Affiliations Department of Neurology, Institute for Myelin and Glia Exploration, Jacobs School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, New York, United States of America, Department of Biochemistry, Institute for Myelin and Glia Exploration, Department Biochemistry and Neurology, Jacobs School of Medicine and Biomedical Sciences, State University of New York at Buffalo, New York, United States of America

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• Yo Sasaki,

  Roles Investigation, Resources

  Affiliation Needleman Center for Neurometabolism and Axonal Therapeutics and Department of Genetics, Washington University School of Medicine in Saint Louis, St. Louis, Missouri, United States of America

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• Anke Claessens,

  Roles Investigation

  Affiliation Biology of Myelin Unit, Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Milan, Italy

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• Cinzia Ferri,

  Roles Investigation

  Affiliation Biology of Myelin Unit, Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Milan, Italy

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• Nadav I. Weinstock,

  Roles Investigation

  Affiliations Department of Neurology, Institute for Myelin and Glia Exploration, Jacobs School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, New York, United States of America, Department of Biochemistry, Institute for Myelin and Glia Exploration, Department Biochemistry and Neurology, Jacobs School of Medicine and Biomedical Sciences, State University of New York at Buffalo, New York, United States of America

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• Alexander M. Rossor,

  Roles Investigation, Resources

  Affiliation Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom

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• Nicholas J. Silvestri,

  Roles Investigation

  Affiliations Department of Neurology, Institute for Myelin and Glia Exploration, Jacobs School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, New York, United States of America, Department of Biochemistry, Institute for Myelin and Glia Exploration, Department Biochemistry and Neurology, Jacobs School of Medicine and Biomedical Sciences, State University of New York at Buffalo, New York, United States of America

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• Emma R. Wilson,

  Roles Investigation

  Affiliations Department of Neurology, Institute for Myelin and Glia Exploration, Jacobs School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, New York, United States of America, Department of Biochemistry, Institute for Myelin and Glia Exploration, Department Biochemistry and Neurology, Jacobs School of Medicine and Biomedical Sciences, State University of New York at Buffalo, New York, United States of America

  https://orcid.org/0000-0002-8069-0173

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• Edward Hurley,

  Roles Investigation

  Affiliations Department of Neurology, Institute for Myelin and Glia Exploration, Jacobs School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, New York, United States of America, Department of Biochemistry, Institute for Myelin and Glia Exploration, Department Biochemistry and Neurology, Jacobs School of Medicine and Biomedical Sciences, State University of New York at Buffalo, New York, United States of America

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• Grahame J. Kidd,

  Roles Investigation, Resources

  Affiliation Department of Neurosciences, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, United States of America

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• Senthilvelan Manohar,

  Roles Investigation

  Affiliation Center for Hearing and Deafness, State University of New York at Buffalo, Buffalo, New York, United States of America

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• Dalian Ding,

  Roles Investigation

  Affiliation Center for Hearing and Deafness, State University of New York at Buffalo, Buffalo, New York, United States of America

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• Richard J. Salvi,

  Roles Investigation, Resources, Writing – review & editing

  Affiliation Center for Hearing and Deafness, State University of New York at Buffalo, Buffalo, New York, United States of America

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• M. Laura Feltri ,

  Contributed equally to this work with: M. Laura Feltri, Maurizio D’Antonio, Lawrence Wrabetz

  Roles Conceptualization, Resources, Supervision, Validation, Writing – original draft, Writing – review & editing

  * E-mail: shackleford.ghjuvanghjacumu@hsr.it (GGS); mlfeltri@buffalo.edu (MLF)

  Affiliations Department of Neurology, Institute for Myelin and Glia Exploration, Jacobs School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, New York, United States of America, Department of Biochemistry, Institute for Myelin and Glia Exploration, Department Biochemistry and Neurology, Jacobs School of Medicine and Biomedical Sciences, State University of New York at Buffalo, New York, United States of America

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• Maurizio D’Antonio ,

  Contributed equally to this work with: M. Laura Feltri, Maurizio D’Antonio, Lawrence Wrabetz

  Roles Funding acquisition, Resources, Supervision, Validation, Visualization, Writing – original draft, Writing – review & editing

  Affiliation Biology of Myelin Unit, Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Milan, Italy

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•  [ ... ],
• Lawrence Wrabetz

  Contributed equally to this work with: M. Laura Feltri, Maurizio D’Antonio, Lawrence Wrabetz

  Roles Conceptualization, Formal analysis, Funding acquisition, Methodology, Project administration, Resources, Supervision, Validation, Visualization, Writing – review & editing

  Affiliations Department of Neurology, Institute for Myelin and Glia Exploration, Jacobs School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, New York, United States of America, Department of Biochemistry, Institute for Myelin and Glia Exploration, Department Biochemistry and Neurology, Jacobs School of Medicine and Biomedical Sciences, State University of New York at Buffalo, New York, United States of America

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