Associated Papers
Protein Nitration in Patients with Mitochondrial Diseases.
Livramento JB et al.
Antioxidants (basel, Switzerland), 2025
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.
Manzoni E et al.
Brain Communications, 2024
38756539 (PubMed )
Supplement: fcae160_supplementary_data.zip › Supplementary_Tables.pdf
Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.
Gupta R et al.
Nature, 2023
Deoxyguanosine kinase mutation F180S is associated with a lean phenotype in mice.
Borreguero CF et al.
International Journal of Obesity (2005), 2023
Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.
Gupta R et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease.
Segur-Bailach E et al.
Journal of Clinical Medicine, 2022
35330074 (PubMed )
Supplement: jcm-11-01749-s001.zip › Supl_Table_S1.pdf
Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation.
Longchamps RJ et al.
Human Genetics, 2022
34859289 (PubMed )
Supplement: 439_2021_2394_MOESM3_ESM.xlsx › Table_S4
Multi-Omics Characterization of the Spontaneous Mesenchymal-Epithelial Transition in the PMC42 Breast Cancer Cell Lines.
Bhatia S et al.
Journal of Clinical Medicine, 2019
31430931 (PubMed )
Supplement: jcm-08-01253-s001.zip › Supplementary_Info › Suppl_Tables.xlsx › S5.ET_SNP_deleterious
A fatal case of mitochondrial DNA depletion syndrome with novel compound heterozygous variants in the deoxyguanosine kinase gene.
Fang W et al.
Oncotarget, 2017
Deep Sequencing Reveals Novel Genetic Variants in Children with Acute Liver Failure and Tissue Evidence of Impaired Energy Metabolism.
Valencia CA et al.
Plos One, 2016
Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure.
Helbling D et al.
Journal of Pediatric Gastroenterology and Nutrition, 2013
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.
Ronchi D et al.
Brain : a Journal of Neurology, 2012
Application of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers Syndrome.
Compton AG et al.
Mitochondrion, 2011
Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).
Poulton J et al.
Biochimica Et Biophysica Acta, 2009
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.
Dimmock DP et al.
Human Mutation, 2008
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