Beyond vacuolar pathology: Multiomic profiling of Danon disease reveals dysfunctional mitochondrial homeostasis

Neuropathol Appl Neurobiol. 2023 Aug;49(4):e12920. doi: 10.1111/nan.12920.
No abstract available

Keywords: Danon disease; LAMP2; mitophagy; proteomics; transcriptomics.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Glycogen Storage Disease Type IIb*
  • Humans
  • Lysosomal-Associated Membrane Protein 2
  • Mitochondria
  • Multiomics
  • Mutation

Substances

  • Lysosomal-Associated Membrane Protein 2