Pathophysiology and Treatment of Canavan Disease

Neurochem Res. 2020 Mar;45(3):561-565. doi: 10.1007/s11064-018-2693-6. Epub 2018 Dec 8.
No abstract available

Keywords: Aspartoacylase (encoded by ASPA); Canavan disease; Gene therapy; N-acetyl-L-aspartate (NAA); N-acetyltransferase 8-like (encoded by Nat8l); NaDC3 (encoded by Slc13a3); Vacuolar (“spongiform”) leukodystrophy.

MeSH terms

  • Acetyltransferases / antagonists & inhibitors
  • Acetyltransferases / genetics
  • Amidohydrolases / deficiency
  • Animals
  • Aspartic Acid / analogs & derivatives
  • Aspartic Acid / metabolism
  • Astrocytes / metabolism
  • Canavan Disease / drug therapy*
  • Canavan Disease / physiopathology*
  • Cerebellum / metabolism
  • Cerebellum / pathology
  • Gene Knockout Techniques
  • Humans
  • Mice
  • Oligodendroglia / metabolism
  • RNA, Small Interfering / therapeutic use
  • Symporters / genetics
  • Transduction, Genetic

Substances

  • RNA, Small Interfering
  • Slc13a3 protein, mouse
  • Symporters
  • Aspartic Acid
  • N-acetylaspartate
  • Acetyltransferases
  • Shati protein, mouse
  • Amidohydrolases
  • aspartoacylase