Misfolded SOD1 and ALS: zeroing in on mitochondria

Amyotroph Lateral Scler. 2012 Jun;13(4):333-40. doi: 10.3109/17482968.2012.648645. Epub 2012 Apr 3.

Abstract

Mutations in SOD1, causative for a subset of familial ALS cases, are associated with the formation of non-normal SOD1 conformers. Recent studies have defined this pool of SOD1 as misfolded and new antibodies have been developed to selectively detect misfolded SOD1 in vivo and in vitro. We will review these new tools and expand on the evidence demonstrating mitochondria as a common intersecting point for misfolded SOD1.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Amyotrophic Lateral Sclerosis / metabolism*
  • Antibodies*
  • Humans
  • Mitochondria / metabolism*
  • Motor Neurons / metabolism*
  • Mutation
  • Protein Folding*
  • Superoxide Dismutase / genetics
  • Superoxide Dismutase / metabolism*
  • Superoxide Dismutase-1

Substances

  • Antibodies
  • SOD1 protein, human
  • Superoxide Dismutase
  • Superoxide Dismutase-1