dc.contributor.author
Kleefeld, Felix
dc.contributor.author
Hentschel, Andreas
dc.contributor.author
von Moers, Arpad
dc.contributor.author
Hahn, Katrin
dc.contributor.author
Horvath, Rita
dc.contributor.author
Goebel, Hans‐Hilmar
dc.contributor.author
Preusse, Corinna
dc.contributor.author
Schallner, Jens
dc.contributor.author
Schuelke, Markus
dc.contributor.author
Roos, Andreas
dc.contributor.author
Stenzel, Werner
dc.date.accessioned
2026-01-20T15:05:25Z
dc.date.available
2026-01-20T15:05:25Z
dc.identifier.uri
https://refubium.fu-berlin.de/handle/fub188/51206
dc.identifier.uri
http://dx.doi.org/10.17169/refubium-50933
dc.description.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.
en
dc.rights.uri
https://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subject
Danon disease
en
dc.subject
transcriptomics
en
dc.subject.ddc
600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit::610 Medizin und Gesundheit
dc.title
Beyond vacuolar pathology: Multiomic profiling of Danon disease reveals dysfunctional mitochondrial homeostasis
dc.type
Wissenschaftlicher Artikel
dcterms.bibliographicCitation.articlenumber
e12920
dcterms.bibliographicCitation.doi
10.1111/nan.12920
dcterms.bibliographicCitation.journaltitle
Neuropathology and Applied Neurobiology
dcterms.bibliographicCitation.number
4
dcterms.bibliographicCitation.originalpublishername
Wiley
dcterms.bibliographicCitation.volume
49
refubium.affiliation
Charité - Universitätsmedizin Berlin
refubium.funding
DEAL Wiley
refubium.resourceType.isindependentpub
no
dcterms.accessRights.openaire
open access
dcterms.bibliographicCitation.pmid
37328427
dcterms.isPartOf.issn
0305-1846
dcterms.isPartOf.eissn
1365-2990
