Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms

Members of Undiagnosed Diseases Network

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

Abstract

Chung et al. show that ACOX1, a peroxisomal protein required for degrading VLCFA, is mostly expressed in glial cells. Its loss causes an accumulation of VLCFA and glial loss. An ACOX1 gain-of-function mutation identified in three individuals leads to elevated ROS and glial loss and is potently suppressed by antioxidants.

Original languageEnglish
Pages (from-to)589-606.e6
JournalNeuron
Volume106
Issue number4
DOIs
StatePublished - May 20 2020

Keywords

  • ACOX1 deficiency
  • antioxidant NACA
  • axonal dystrophy
  • Drosophila
  • fatty acid peroxidation
  • NACA
  • ROS
  • Schwann cells
  • very long chain fatty acids
  • wrapping glia

Fingerprint Dive into the research topics of 'Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms'. Together they form a unique fingerprint.

Cite this