The p.S85C-mutation in MATR3 impairs stress granule formation in Matrin-3 myopathy

Exp Neurol. 2018 Aug:306:222-231. doi: 10.1016/j.expneurol.2018.05.012. Epub 2018 May 12.
No abstract available

Keywords: Cellular stress; Distal myopathy; G3BP1; MATR3; Matrin-3 myopathy; Stress granule; TIA1; VCPDM.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • Arsenites / pharmacology
  • Biopsy
  • Cytoplasmic Granules / metabolism
  • Cytoplasmic Granules / pathology*
  • DNA Helicases / genetics
  • Distal Myopathies / genetics*
  • Distal Myopathies / metabolism
  • Distal Myopathies / pathology*
  • Female
  • Fibroblasts / pathology
  • Humans
  • Immunohistochemistry
  • Laryngeal Diseases / genetics*
  • Laryngeal Diseases / metabolism
  • Laryngeal Diseases / pathology*
  • Male
  • Middle Aged
  • Muscle, Skeletal / pathology
  • Mutation / genetics
  • Nuclear Matrix-Associated Proteins / genetics*
  • Nuclear Matrix-Associated Proteins / metabolism
  • Oxidative Stress / genetics*
  • Pharyngeal Diseases / genetics*
  • Pharyngeal Diseases / metabolism
  • Pharyngeal Diseases / pathology*
  • Poly-ADP-Ribose Binding Proteins / genetics
  • RNA Helicases / genetics
  • RNA Recognition Motif Proteins / genetics
  • RNA-Binding Proteins / genetics*
  • RNA-Binding Proteins / metabolism
  • T-Cell Intracellular Antigen-1 / genetics

Substances

  • Arsenites
  • MATR3 protein, human
  • Nuclear Matrix-Associated Proteins
  • Poly-ADP-Ribose Binding Proteins
  • RNA Recognition Motif Proteins
  • RNA-Binding Proteins
  • T-Cell Intracellular Antigen-1
  • TIA1 protein, human
  • DNA Helicases
  • G3BP1 protein, human
  • RNA Helicases
  • arsenite

Supplementary concepts

  • Myopathy, Distal 2