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Article

The nucleotide prodrug CERC-913 improves mtDNA content in primary hepatocytes from DGUOK-deficient rats.

Journal of inherited metabolic disease - 1 Mar 2021

Vanden Avond Mark A, Meng Hui, Beatka Margaret J, Helbling Daniel C, Prom Mariah J, Sutton Jessica L, Slick Rebecca A, Dimmock David P, Pertusati Fabrizio, Serpi Michaela, Pileggi Elisa, Crutcher Patrick, Thomas Stephen, Lawlor Michael W

Abstract excerpt

Loss-of-function mutations in the deoxyguanosine kinase (DGUOK) gene result in a mitochondrial DNA (mtDNA) depletion syndrome. DGUOK plays an important role in converting deoxyribonucleosides to deoxyribonucleoside monophosphates via the salvage pathway for mtDNA synthesis. DGUOK deficiency manifests predominantly in the liver; the most common cause of death is liver failure within the first year of life and no...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 33368311
DOI: 10.1002/jimd.12354

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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