Associated Papers
Clinical and Genetic Analysis of Patients With TK2 Deficiency.
Ceballos F et al.
Neurology. Genetics, 2024
Mitochondrial Disease and the Kidney With a Special Focus on CoQ10 Deficiency.
Schijvens AM et al.
Kidney International Reports, 2020
Retrospective natural history of thymidine kinase 2 deficiency.
Garone C et al.
Journal of Medical Genetics, 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 enzyme kinetics elucidate the mechanism of thymidine-induced mitochondrial DNA depletion.
Sun R et al.
Biochemistry, 2014
Structure, physiological role, and specific inhibitors of human thymidine kinase 2 (TK2): present and future.
Pérez-Pérez MJ et al.
Medicinal Research Reviews, 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
Deoxyribonucleoside kinases in mitochondrial DNA depletion.
Saada-Reisch A
Nucleosides, Nucleotides & Nucleic Acids, 2004
Mutation analysis in 16 patients with mtDNA depletion.
Carrozzo R et al.
Human Mutation, 2003
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