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Article

Deoxyguanosine kinase mutation F180S is associated with a lean phenotype in mice.

International journal of obesity (2005) - 1 Mar 2023

Borreguero Cédric Francis, Wueest Stephan, Hantel Constanze, Schneider Holger, Konrad Daniel, Beuschlein Felix, Spyroglou Ariadni

Abstract excerpt

BACKGROUND: Deoxyguanosine kinase (DGUOK) deficiency is one of the genetic causes of mitochondrial DNA depletion syndrome (MDDS) in humans, leading to the hepatocerebral or the isolated hepatic form of MDDS. Mouse models are helpful tools for the improvement of understanding of the pathophysiology of diseases and offer the opportunity to examine new therapeutic options. METHODS: Herein, we describe the generation...

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Identifiers

PMID: 36709400
DOI: 10.1038/s41366-023-01262-z
PMCID: PMC10023562

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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