Associated Papers
Doxecitine and doxribtimine treatment in an adult patient with thymidine kinase 2 deficiency.
Chow E et al.
Molecular Genetics and Metabolism, 2025
Clinical and molecular spectrum of TK2-deficiency: a large Brazilian cohort.
Moreno CAM et al.
Scientific Reports, 2025
The Finnish genetic heritage in 2022 - from diagnosis to translational research.
Uusimaa J et al.
Disease Models & Mechanisms, 2022
Advances in Thymidine Kinase 2 Deficiency: Clinical Aspects, Translational Progress, and Emerging Therapies.
Berardo A et al.
Journal of Neuromuscular Diseases, 2022
Clinical Profile and Outcome of Pediatric Mitochondrial Myopathy in China.
Hu C et al.
Frontiers in Neurology, 2020
Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect.
Wang J et al.
Molecular Genetics and Metabolism, 2018
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
28957316 (PubMed )
Supplement: pgen.1006915.s002.xlsx › Table_S2
Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature.
Mazurova S et al.
Cardiology in the Young, 2017
Clinical application of whole exome sequencing reveals a novel compound heterozygous TK2-mutation in two brothers with rapidly progressive combined muscle-brain atrophy, axonal neuropathy, and status epilepticus.
Knierim E et al.
Mitochondrion, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt
Thymidine kinase 2 enzyme kinetics elucidate the mechanism of thymidine-induced mitochondrial DNA depletion.
Sun R et al.
Biochemistry, 2014
Ophthalmological findings in children and young adults with genetically verified mitochondrial disease.
Grönlund MA et al.
The British Journal of Ophthalmology, 2010
Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome.
Götz A et al.
Brain : a Journal of Neurology, 2008
Novel mutations in the thymidine kinase 2 gene (TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletion.
Tulinius M et al.
Neuromuscular Disorders : Nmd, 2005
Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene.
Chanprasert S et al.
Molecular Genetics and Metabolism, 0
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