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

Research output: Contribution to journal › Research article › Contributed › peer-review

Contributors

  • Felix Kleefeld - , Charité – Universitätsmedizin Berlin (Author)
  • Andreas Hentschel - , Leibniz-Institut für Analytische Wissenschaften - ISAS (Author)
  • Arpad von Moers - , German Red Cross (Author)
  • Katrin Hahn - , Charité – Universitätsmedizin Berlin (Author)
  • Rita Horvath - , University of Cambridge (Author)
  • Hans Hilmar Goebel - , Charité – Universitätsmedizin Berlin (Author)
  • Corinna Preusse - , Charité – Universitätsmedizin Berlin (Author)
  • Jens Schallner - , Department of Paediatrics, Division of Neuropediatrics (Author)
  • Markus Schuelke - , Charité – Universitätsmedizin Berlin (Author)
  • Andreas Roos - , University of Duisburg-Essen, Ruhr University Bochum, University of Ottawa (Author)
  • Werner Stenzel - , Charité – Universitätsmedizin Berlin (Author)

Details

Original languageEnglish
Article numbere12920
JournalNeuropathology and applied neurobiology
Volume49
Issue number4
Publication statusPublished - Aug 2023
Peer-reviewedYes

External IDs

PubMed 37328427

Keywords

ASJC Scopus subject areas

Keywords

  • Danon disease, LAMP2, mitophagy, proteomics, transcriptomics, Mitochondria, Glycogen Storage Disease Type IIb, Humans, Multiomics, Mutation, Lysosomal-Associated Membrane Protein 2

Library keywords