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Mutations in the Glycosyltransferase Domain of GLT8D1 Are Associated with Familial Amyotrophic Lateral Sclerosis

Authors
  • Cooper-Knock, Johnathan1
  • Moll, Tobias1
  • Ramesh, Tennore1
  • Castelli, Lydia1
  • Beer, Alexander1
  • Robins, Henry1
  • Fox, Ian1
  • Niedermoser, Isabell2
  • Van Damme, Philip3, 4
  • Moisse, Matthieu3
  • Robberecht, Wim3, 4
  • Hardiman, Orla5
  • Panades, Monica P.6
  • Assialioui, Abdelilah6
  • Mora, Jesus S.7
  • Basak, A. Nazli8
  • Morrison, Karen E.9
  • Shaw, Christopher E.10
  • Al-Chalabi, Ammar10
  • Landers, John E.11
  • And 9 more
  • 1 Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield S10 2HQ, UK
  • 2 Department of Molecular Evolution and Development Department, University of Vienna, Vienna 1090, Austria
  • 3 VIB-KU Leuven Center for Brain & Disease Research, KU Leuven, Leuven, Belgium
  • 4 University Hospitals Leuven, Department of Neurology, Leuven, Belgium
  • 5 Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Dublin 2, Ireland
  • 6 Hospital Universitari de Bellvitage, Barcelona 08907, Spain
  • 7 Hospital San Rafael, Madrid 28016, Spain
  • 8 Department of Molecular Biology and Genetics, Bogazici University, Istanbul 34342, Turkey
  • 9 Faculty of Medicine, University of Southampton, Southampton SO17 1BJ, UK
  • 10 Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London SE5 8AF, UK
  • 11 University of Massachusetts Medical School, Worcester, MA 01655, USA
Type
Published Article
Journal
Cell Reports
Publisher
Elsevier
Publication Date
Feb 26, 2019
Volume
26
Issue
9
Pages
2298–2306
Identifiers
DOI: 10.1016/j.celrep.2019.02.006
PMID: 30811981
PMCID: PMC7003067
Source
PubMed Central
Keywords
License
Unknown

Abstract

Amyotrophic lateral sclerosis (ALS) is an incurable neurodegeneration. Cooper-Knock et al. report ALS-causing mutations within GLT8D1. Mutations are associated with the substrate binding site and impair enzyme activity. Mutated GLT8D1 is neurotoxic and induces an ALS-like zebrafish phenotype.

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