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

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Published version
Peer-reviewed

Repository URI

https://www.repository.cam.ac.uk/handle/1810/355182

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 Published version (2.27 MB)

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Other

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Authors

Kleefeld, Felix  ORCID logo  https://orcid.org/0000-0002-0643-7313

Description

Funder: Ministerium für Kultur und Wissenschaft des Landes Nordrhein‐Westfalen; doi: http://dx.doi.org/10.13039/501100014690


Funder: Regierenden Bürgermeister von Berlin ‐ Senatskanzlei Wissenschaft und Forschung


Funder: European Regional Development Fund; doi: http://dx.doi.org/10.13039/501100008530

Keywords

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

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Publisher

Wiley

Publisher DOI

https://doi.org/10.1111/nan.12920

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Except where otherwised noted, this item's license is described as http://creativecommons.org/licenses/by-nc-nd/4.0/
Sponsorship
Medical Research Council (MR/N025431/2)
MRC (MR/V009346/1)
MRC (MR/N027302/2)

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