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

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 o...

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Detalles Bibliográficos
Autores principales: Borreguero, Cédric Francis, Wueest, Stephan, Hantel, Constanze, Schneider, Holger, Konrad, Daniel, Beuschlein, Felix, Spyroglou, Ariadni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10023562/
https://www.ncbi.nlm.nih.gov/pubmed/36709400
http://dx.doi.org/10.1038/s41366-023-01262-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10023562/
https://www.ncbi.nlm.nih.gov/pubmed/36709400
http://dx.doi.org/10.1038/s41366-023-01262-z

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