Title:
Beyond vacuolar pathology: Multiomic profiling of Danon disease reveals dysfunctional mitochondrial homeostasis
Author(s):
Kleefeld, Felix; Hentschel, Andreas; von Moers, Arpad; Hahn, Katrin; Horvath, Rita; Goebel, Hans‐Hilmar; Preusse, Corinna; Schallner, Jens; Schuelke, Markus; Roos, Andreas; Stenzel, Werner
Year of publication:
2023
Available Date:
2026-01-20T15:05:25Z
Abstract:
- Danon disease is characterised by both vacuolar myopathy and impaired mitochondrial turnover, evident at the morphological, mRNA and protein levels.
- Dysfunctional mitophagy and structural abnormalities of mitochondria are hallmark features of Danon disease.
- Dysfunctional mitophagy is an early pathological feature of the disease that might even precede vacuole
formation.
Part of Identifier:
ISSN (print): 0305-1846
e-ISSN (online): 1365-2990
Keywords:
Danon disease
LAMP2
mitophagy
proteomics
transcriptomics
DDC-Classification:
610 Medizin und Gesundheit
Publication Type:
Wissenschaftlicher Artikel
DOI of the Original Publication:
PubMed ID of the Original Publication:
Journaltitle:
Neuropathology and Applied Neurobiology
Department/institution:
Charité - Universitätsmedizin Berlin
