| Thymidine Kinase 2 and Mitochondrial Protein COX I in the Cerebellum of Patients with Spinocerebellar Ataxia Type 31 Caused by Penta-nucleotide Repeats (TTCCA)n. | Thymidine Kinase 2 and Mitochondrial Protein COX I in the Cerebellum of Patients with Spinocerebellar Ataxia Type 31 Caused by Penta-nucleotide Repeats (TTCCA)(n).
Aoki H, Higashi M, Okita M, Ando N, Murayama S, Ishikawa K, Yokota T., Free PMC Article | 02/4/2023 |
| Metrics of progression and prognosis in untreated adults with thymidine kinase 2 deficiency: An observational study. | Metrics of progression and prognosis in untreated adults with thymidine kinase 2 deficiency: An observational study.
Domínguez-González C, Hernández-Voth A, de Fuenmayor-Fernández de la Hoz CP, Guerrero LB, Morís G, García-García J, Muelas N, León Hernández JC, Rabasa M, Lora D, Blázquez A, Arenas J, Martin MÁ. | 10/1/2022 |
| Mutational analyses of human thymidine kinase 2 reveal key residues in ATP-Mg(2+) binding and catalysis. | Mutational analyses of human thymidine kinase 2 reveal key residues in ATP-Mg(2+) binding and catalysis.
Wang L, Eriksson S. | 04/16/2022 |
| In TK2 deficiency, age at onset, rate of weakness progression and POS are important variables that define three clinical subtypes. Nervous system involvement often complicates the clinical course of the infantile-onset form while extraocular muscle and facial involvement are characteristic of the late-onset form. | Retrospective natural history of thymidine kinase 2 deficiency.
Garone C, Taylor RW, Nascimento A, Poulton J, Fratter C, Domínguez-González C, Evans JC, Loos M, Isohanni P, Suomalainen A, Ram D, Hughes MI, McFarland R, Barca E, Lopez Gomez C, Jayawant S, Thomas ND, Manzur AY, Kleinsteuber K, Martin MA, Kerr T, Gorman GS, Sommerville EW, Chinnery PF, Hofer M, Karch C, Ralph J, Cámara Y, Madruga-Garrido M, Domínguez-Carral J, Ortez C, Emperador S, Montoya J, Chakrapani A, Kriger JF, Schoenaker R, Levin B, Thompson JLP, Long Y, Rahman S, Donati MA, DiMauro S, Hirano M., Free PMC Article | 10/5/2019 |
| Thymidine Kinase 2 mutation is associated with myopathic form of mitochondrial DNA maintenance defect. | Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect.
Wang J, Kim E, Dai H, Stefans V, Vogel H, Al Jasmi F, Schrier Vergano SA, Castro D, Bernes S, Bhambhani V, Long C, El-Hattab AW, Wong LJ. | 03/16/2019 |
| We confirm the pathogenicity of the rare mitochondrial m.8340G>A variant the basis of single-fibre segregation studies and its association with an expanded clinical phenotype. Our case expands the phenotypic spectrum of diseases associated with mitochondrial tRNA point mutations, highlighting the importance of considering a mitochondrial diagnosis. | Pigmentary retinopathy, rod-cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNA(Lys) (m.8340G>A) gene variant.
Gill JS, Hardy SA, Blakely EL, Hopton S, Nemeth AH, Fratter C, Poulton J, Taylor RW, Downes SM., Free PMC Article | 09/9/2017 |
| Severe deficiency of thymidine kinase 2 was associated with patients with mild forms of myopathy. | Severe TK2 enzyme activity deficiency in patients with mild forms of myopathy.
Cámara Y, Carreño-Gago L, Martín MA, Melià MJ, Blázquez A, Delmiro A, Garrabou G, Morén C, Díaz-Manera J, Gallardo E, Bornstein B, López-Gallardo E, Hernández-Lain A, San Millán B, Cancho E, Rodríguez-Vico JS, Martí R, García-Arumí E. | 08/22/2015 |
| Data indicate that the thymidine kinase 2 enzyme kinetics of thymidine (dT) phosphorylation exhibits negative cooperativity, but deoxycytidine (dC) phosphorylation follows hyperbolic Michaelis-Menten kinetics. | Thymidine kinase 2 enzyme kinetics elucidate the mechanism of thymidine-induced mitochondrial DNA depletion.
Sun R, Wang L. | 04/25/2015 |
| thymidine kinase 2 but not deoxyguanosine kinase is up-regulated during the stationary growth phase of cultured cells | Mitochondrial thymidine kinase 2 but not deoxyguanosine kinase is up-regulated during the stationary growth phase of cultured cells.
Sun R, Eriksson S, Wang L. | 02/21/2015 |
| We suggest that a chip including DPYD, TYMS, TYMP, TK1, and TK2 genes is a potential tool to predict response in LARC following fluoropyrimidine-based CCRT. | DPYD, TYMS, TYMP, TK1, and TK2 genetic expressions as response markers in locally advanced rectal cancer patients treated with fluoropyrimidine-based chemoradiotherapy.
Huang MY, Wu CH, Huang CM, Chung FY, Huang CW, Tsai HL, Chen CF, Lin SR, Wang JY., Free PMC Article | 08/9/2014 |
| Clinically, hypotonia and proximal muscle weakness are the major phenotypes present in all subjects. In summary, our study expands the molecular and clinical spectrum associated with TK2 deficiency. | Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene.
Chanprasert S, Wang J, Weng SW, Enns GM, Boué DR, Wong BL, Mendell JR, Perry DA, Sahenk Z, Craigen WJ, Alcala FJ, Pascual JM, Melancon S, Zhang VW, Scaglia F, Wong LJ. | 03/22/2014 |
| Thymidine kinase-2 mutations causing mtDNA deletions are linked to a case of late-onset respiratory failure. | Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions.
Alston CL, Schaefer AM, Raman P, Solaroli N, Krishnan KJ, Blakely EL, He L, Craig K, Roberts M, Vyas A, Nixon J, Horvath R, Turnbull DM, Karlsson A, Gorman GS, Taylor RW., Free PMC Article | 02/1/2014 |
| Results strongly suggest that oxidative damage-induced S-glutathionylation and degradation of TK2 have significant impact on mitochondrial DNA precursor synthesis. | Oxidative stress induced S-glutathionylation and proteolytic degradation of mitochondrial thymidine kinase 2.
Sun R, Eriksson S, Wang L., Free PMC Article | 09/29/2012 |
| R225W and T230A mutation of TK2 leads to a significant reduction activity in autosomal recessive progressive external ophthalmoplegia patients. | Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.
Tyynismaa H, Sun R, Ahola-Erkkilä S, Almusa H, Pöyhönen R, Korpela M, Honkaniemi J, Isohanni P, Paetau A, Wang L, Suomalainen A. | 04/7/2012 |
| TK2-deficient cells showed severe mtDNA depletion. | Targeted impairment of thymidine kinase 2 expression in cells induces mitochondrial DNA depletion and reveals molecular mechanisms of compensation of mitochondrial respiratory activity.
Villarroya J, Lara MC, Dorado B, Garrido M, García-Arumí E, Meseguer A, Hirano M, Vilà MR., Free PMC Article | 06/4/2011 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesGenetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ. New genetic associations detected in a host response study to hepatitis B vaccine.
Davila S, Froeling FE, Tan A, Bonnard C, Boland GJ, Snippe H, Hibberd ML, Seielstad M. | 04/7/2010 |
| Sequence analysis of the TK2 gene revealed two novel heterozygous mutations: the frame shift mutation, c.255_c.258delAGAA, and the heterozygous missense mutation, c.515G>A, (p.R172Q). | Progressive myofiber loss with extensive fibro-fatty replacement in a child with mitochondrial DNA depletion syndrome and novel thymidine kinase 2 gene mutations.
Collins J, Bove KE, Dimmock D, Morehart P, Wong LJ, Wong B. | 01/21/2010 |
| Gene mutations in TK2 resulting in MDS syndrome was studied. | Altered gene transcription profiles in fibroblasts harboring either TK2 or DGUOK mutations indicate compensatory mechanisms.
Villarroya J, de Bolós C, Meseguer A, Hirano M, Vilà MR., Free PMC Article | 01/21/2010 |
| Normal fibroblasts apparently contain more TK2 than needed to maintain dTTP during quiescence, which would explain why TK2-mutated fibroblasts do not manifest mtDNA depletion despite their reduced TK2 activity. | Unchanged thymidine triphosphate pools and thymidine metabolism in two lines of thymidine kinase 2-mutated fibroblasts.
Frangini M, Rampazzo C, Franzolin E, Lara MC, Vilà MR, Martí R, Bianchi V. | 01/21/2010 |
| FMAU is preferably phosphorylated by TK2 and can track TK2 activity and mitochondrial mass in cellular stress. FMAU may provide an early marker of treatment effects. | Tracking cellular stress with labeled FMAU reflects changes in mitochondrial TK2.
Tehrani OS, Douglas KA, Lawhorn-Crews JM, Shields AF., Free PMC Article | 01/21/2010 |
| Novel mutations(p.Q87X and p.N100S) in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy. | Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy.
Blakely E, He L, Gardner JL, Hudson G, Walter J, Hughes I, Turnbull DM, Taylor RW. | 01/21/2010 |
| Mutations in TK2, necessary for mtDNA biogenesis, increased risk for defective mtDNA replication, leading to LV hypertrophy. | Cardiac-targeted transgenic mutant mitochondrial enzymes: mtDNA defects, antiretroviral toxicity and cardiomyopathy.
Kohler JJ, Hosseini SH, Green E, Hoying-Brandt A, Cucoranu I, Haase CP, Russ R, Srivastava J, Ivey K, Ludaway T, Kapoor V, Abuin A, Shapoval A, Santoianni R, Saada A, Elpeleg O, Lewis W., Free PMC Article | 01/21/2010 |
| A 12-year-old patient with mitochondrial DNA (mtDNA) depletion syndrome due to TK2 gene mutations has been evaluated serially over the last 10 years. We observed progressive muscle atrophy with selective loss of type 2 muscle fibers. | Selective muscle fiber loss and molecular compensation in mitochondrial myopathy due to TK2 deficiency.
Vilà MR, Villarroya J, García-Arumí E, Castellote A, Meseguer A, Hirano M, Roig M., Free PMC Article | 01/21/2010 |
| activity of TK2 is curbed by thymidine phosphorylase, which degrades thymidine in the cytoplasm, thus limiting the availability of thymidine for phosphorylation by TK2 in mitochondria | Mitochondrial thymidine kinase and the enzymatic network regulating thymidine triphosphate pools in cultured human cells.
Rampazzo C, Fabris S, Franzolin E, Crovatto K, Frangini M, Bianchi V. | 01/21/2010 |
| Long-term treatment of H9 human lymphoid cells in the presence of dideoxycytidine down-regulated TK2 gene expression and reduced the expression and activity of TK in resistant cells. | 2', 3'-Dideoxycytidine represses thymidine kinases 1 and 2 expression in T-lymphoid cells.
Han T, Fernandez M, Sarkar M, Agarwal RP. | 01/21/2010 |