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ProteomicsPyruvate kinase supports the metabolic shift and long-term survival of a mouse model with mitochondrial dysfunction caused by DGUOK deficiency
The deoxyguanosine kinase (DGUOK) deficiency causes mtDNA depletion and mitochondrial dysfunction. We reported prolonged survival of Dguok knockout (Dguok-/-) mice despite low (<5%) mtDNA content in the liver. However, the molecular mechanisms, enabling the extended survival, remain unknown. Using t...
ORGANISM(S): Mus musculus (Mouse) 
2022-02-16 | PXD023881 | Pride
Mouse Label-free quantification Tmt-based quantification Dguok deficiency 
TranscriptomicsDeoxyguanosine Kinase Deficiency Couples Purine Metabolism to Innate Immune Activation and Lipid Accumulation in Hepatocytes
Mitochondrial DNA depletion syndromes (MDS) encompass a heterogeneous set of metabolic disorders caused by defects in enzymes responsible for maintaining mitochondrial nucleotide pools and genome integrity. Among these, deoxyguanosine kinase (DGUOK) acts within the mitochondrial purine-salvage pathw...
ORGANISM(S): Homo sapiens 
2025-11-18 | GSE309813 | GEO
UnknownCase report: Novel DGUOK variants associated with idiopathic non-cirrhotic portal hypertension in a Han Chinese child.
Not available
S-EPMC10565027 | biostudies-literature
UnknownCPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions.
Not available
S-EPMC6431376 | biostudies-literature
GenomicsDeoxyguanosine Kinase Deficiency Couples Purine Metabolism to Innate Immune Activation and Lipid Accumulation in Hepatocytes
Deoxyguanosine Kinase Deficiency Couples Purine Metabolism to Innate Immune Activation and Lipid Accumulation in Hepatocytes
PRJNA1363757 | ENA
UnknownGene therapy prevents hepatic mitochondrial dysfunction in murine deoxyguanosine kinase deficiency.
Not available
S-EPMC11782815 | biostudies-literature
UnknownMitochondrial deoxyguanosine kinase is required for female fertility in mice.
Not available
S-EPMC10984852 | biostudies-literature
UnknownCoordinated pyruvate kinase activity is crucial for metabolic adaptation and cell survival during mitochondrial dysfunction.
Not available
S-EPMC8522632 | biostudies-literature
UnknownDeoxyguanosine kinase deficiency: natural history and liver transplant outcome.
Not available
S-EPMC11098040 | biostudies-literature
UnknownAdenosine kinase deficiency with neurodevelopemental delay and recurrent hepatic dysfunction: A case report.
Not available
S-EPMC4975537 | biostudies-literature
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