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NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice.

Autor: Jennings MJ; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK., Kagiava A; Department of Neuroscience and Neuromuscular Disorders Centre, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Vendredy L; Peripheral Neuropathy Research Group, Department of Biomedical Sciences, Institute Born Bunge, University of Antwerp, Antwerp, Belgium., Spaulding EL; The Jackson Laboratory, Bar Harbor, ME, USA.; Graduate School of Biomedical Sciences and Engineering, University of Maine, Orono, ME 04469, USA., Stavrou M; Department of Neuroscience and Neuromuscular Disorders Centre, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Hathazi D; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK., Grüneboom A; Leibniz-Institut für Analytische Wissenschaften-ISAS-e.V, Dortmund, Germany., De Winter V; Peripheral Neuropathy Research Group, Department of Biomedical Sciences, Institute Born Bunge, University of Antwerp, Antwerp, Belgium., Gess B; Department of Neurology, University Hospital Aachen, Aachen, Germany., Schara U; Centre for Neuromuscular Disorders in Children, University of Duisburg-Essen, Essen, Germany., Pogoryelova O; Directorate of Neurosciences, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals, NHS Foundation Trust, Newcastle upon Tyne, UK., Lochmüller H; Division of Neurology, Department of Medicine, The Ottawa Hospital, Brain and Mind Research Institute and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany.; CNAG-CRG, Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain., Borchers CH; Segal Cancer Proteomics Centre, Lady Davis Institute, Jewish General Hospital, McGill University, Montreal, Quebec, Canada.; Gerald Bronfman Department of Oncology, Jewish General Hospital, McGill University, Montreal, Quebec, Canada.; Center for Computational and Data-Intensive Science and Engineering, Skolkovo Institute of Science and Technology, Moscow, Russia., Roos A; Division of Neurology, Department of Medicine, The Ottawa Hospital, Brain and Mind Research Institute and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr University Bochum, Bochum, Germany., Burgess RW; The Jackson Laboratory, Bar Harbor, ME, USA.; Graduate School of Biomedical Sciences and Engineering, University of Maine, Orono, ME 04469, USA., Timmerman V; Peripheral Neuropathy Research Group, Department of Biomedical Sciences, Institute Born Bunge, University of Antwerp, Antwerp, Belgium., Kleopa KA; Department of Neuroscience and Neuromuscular Disorders Centre, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.

Publikováno v: Brain : a journal of neurology [Brain] 2022 Nov 21; Vol. 145 (11), pp. 3999-4015.

tRNA overexpression rescues peripheral neuropathy caused by mutations in tRNA synthetase.

Autor: Zuko A; Department of Molecular Neurobiology, Donders Institute for Brain, Cognition and Behaviour and Faculty of Science, Radboud University, Nijmegen, Netherlands., Mallik M; Department of Molecular Neurobiology, Donders Institute for Brain, Cognition and Behaviour and Faculty of Science, Radboud University, Nijmegen, Netherlands.; Molecular Neurogenetics Laboratory, Max Planck Institute for Molecular Biomedicine, Münster, Germany., Thompson R; Biochemistry and Molecular Biology, Department of Chemistry, University of Hamburg, Hamburg, Germany., Spaulding EL; The Jackson Laboratory, Bar Harbor, ME, USA.; Graduate School of Biomedical Sciences and Engineering, University of Maine, Orono, ME, USA., Wienand AR; Department of Molecular Neurobiology, Donders Institute for Brain, Cognition and Behaviour and Faculty of Science, Radboud University, Nijmegen, Netherlands., Been M; Department of Molecular Neurobiology, Donders Institute for Brain, Cognition and Behaviour and Faculty of Science, Radboud University, Nijmegen, Netherlands., Tadenev ALD; The Jackson Laboratory, Bar Harbor, ME, USA., van Bakel N; Department of Molecular Neurobiology, Donders Institute for Brain, Cognition and Behaviour and Faculty of Science, Radboud University, Nijmegen, Netherlands., Sijlmans C; Department of Molecular Neurobiology, Donders Institute for Brain, Cognition and Behaviour and Faculty of Science, Radboud University, Nijmegen, Netherlands., Santos LA; Biochemistry and Molecular Biology, Department of Chemistry, University of Hamburg, Hamburg, Germany., Bussmann J; Molecular Neurogenetics Laboratory, Max Planck Institute for Molecular Biomedicine, Münster, Germany., Catinozzi M; Department of Molecular Neurobiology, Donders Institute for Brain, Cognition and Behaviour and Faculty of Science, Radboud University, Nijmegen, Netherlands.; Molecular Neurogenetics Laboratory, Max Planck Institute for Molecular Biomedicine, Münster, Germany., Das S; Biochemistry and Molecular Biology, Department of Chemistry, University of Hamburg, Hamburg, Germany., Kulshrestha D; Department of Molecular Neurobiology, Donders Institute for Brain, Cognition and Behaviour and Faculty of Science, Radboud University, Nijmegen, Netherlands.; Molecular Neurogenetics Laboratory, Max Planck Institute for Molecular Biomedicine, Münster, Germany., Burgess RW; The Jackson Laboratory, Bar Harbor, ME, USA.; Graduate School of Biomedical Sciences and Engineering, University of Maine, Orono, ME, USA., Ignatova Z; Biochemistry and Molecular Biology, Department of Chemistry, University of Hamburg, Hamburg, Germany., Storkebaum E; Department of Molecular Neurobiology, Donders Institute for Brain, Cognition and Behaviour and Faculty of Science, Radboud University, Nijmegen, Netherlands.; Molecular Neurogenetics Laboratory, Max Planck Institute for Molecular Biomedicine, Münster, Germany.

Publikováno v: Science (New York, N.Y.) [Science] 2021 Sep 03; Vol. 373 (6559), pp. 1161-1166. Date of Electronic Publication: 2021 Sep 01.

Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models.

Autor: Morelli KH; The Jackson Laboratory, Bar Harbor, Maine, USA.; Graduate School of Biomedical Science and Engineering, University of Maine, Orono, Maine, USA., Griffin LB; Program in Cellular and Molecular Biology, and.; Medical Scientist Training Program, University of Michigan, Ann Arbor, Michigan, USA., Pyne NK; Center for Gene Therapy, The Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA., Wallace LM; Center for Gene Therapy, The Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA., Fowler AM; Center for Gene Therapy, The Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA., Oprescu SN; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA., Takase R; Department of Biochemistry and Molecular Biochemistry, Thomas Jefferson University, Philadelphia, Pennsylvania, USA., Wei N; Department of Molecular Medicine, The Scripps Research Institute, La Jolla, California, USA., Meyer-Schuman R; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA., Mellacheruvu D; Department of Pathology, and.; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan, USA., Kitzman JO; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA., Kocen SG; The Jackson Laboratory, Bar Harbor, Maine, USA., Hines TJ; The Jackson Laboratory, Bar Harbor, Maine, USA., Spaulding EL; The Jackson Laboratory, Bar Harbor, Maine, USA.; Graduate School of Biomedical Science and Engineering, University of Maine, Orono, Maine, USA., Lupski JR; Department of Molecular and Human Genetics, and.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Nesvizhskii A; Department of Pathology, and.; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan, USA., Mancias P; Department of Pediatrics, McGovern Medical School, The University of Texas Health Science Center at Houston, and Children's Memorial Hermann Hospital, Houston, Texas, USA., Butler IJ; Department of Pediatrics, McGovern Medical School, The University of Texas Health Science Center at Houston, and Children's Memorial Hermann Hospital, Houston, Texas, USA., Yang XL; Department of Molecular Medicine, The Scripps Research Institute, La Jolla, California, USA., Hou YM; Department of Biochemistry and Molecular Biochemistry, Thomas Jefferson University, Philadelphia, Pennsylvania, USA., Antonellis A; Program in Cellular and Molecular Biology, and.; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA., Harper SQ; Center for Gene Therapy, The Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA., Burgess RW; The Jackson Laboratory, Bar Harbor, Maine, USA.; Graduate School of Biomedical Science and Engineering, University of Maine, Orono, Maine, USA.

Publikováno v: The Journal of clinical investigation [J Clin Invest] 2019 Dec 02; Vol. 129 (12), pp. 5568-5583.

Trk receptor signaling and sensory neuron fate are perturbed in human neuropathy caused by Gars mutations.

Autor: Sleigh JN; Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, London WC1N 3BG, United Kingdom; j.sleigh@ucl.ac.uk giampietro.schiavo@ucl.ac.uk., Dawes JM; Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, United Kingdom., West SJ; Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, United Kingdom., Wei N; Department of Molecular Medicine, The Scripps Research Institute, La Jolla, CA 92037., Spaulding EL; The Jackson Laboratory, Bar Harbor, ME 04609.; Graduate School of Biomedical Science and Engineering, University of Maine, Orono, ME 04469., Gómez-Martín A; Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, London WC1N 3BG, United Kingdom., Zhang Q; Department of Molecular Medicine, The Scripps Research Institute, La Jolla, CA 92037., Burgess RW; The Jackson Laboratory, Bar Harbor, ME 04609.; Graduate School of Biomedical Science and Engineering, University of Maine, Orono, ME 04469., Cader MZ; Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, United Kingdom., Talbot K; Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, United Kingdom., Yang XL; Department of Molecular Medicine, The Scripps Research Institute, La Jolla, CA 92037., Bennett DL; Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, United Kingdom., Schiavo G; Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, London WC1N 3BG, United Kingdom; j.sleigh@ucl.ac.uk giampietro.schiavo@ucl.ac.uk.

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2017 Apr 18; Vol. 114 (16), pp. E3324-E3333. Date of Electronic Publication: 2017 Mar 28.