anti-Thymidine Kinase 2, Mitochondrial (TK2) Antikörper

Human Thymidine Kinase 2, Mitochondrial (TK2) Interaktionspartner

1. 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.

2. Thymidine Kinase 2 mutation is associated with myopathic form of mitochondrial DNA maintenance defect.

3. 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.

4. Severe deficiency of thymidine kinase 2 was associated with patients with mild forms of myopathy.

5. 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.

6. thymidine kinase 2 but not deoxyguanosine kinase is up-regulated during the stationary growth phase of cultured cells

7. 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.

8. 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.

9. Thymidine kinase-2 mutations causing mtDNA deletions are linked to a case of late-onset respiratory failure.

10. Results strongly suggest that oxidative damage-induced S-glutathionylation and degradation of TK2 have significant impact on mitochondrial DNA precursor synthesis.

11. R225W and T230A mutation of TK2 leads to a significant reduction activity in autosomal recessive progressive external ophthalmoplegia patients.

12. TK2-deficient cells showed severe mtDNA depletion.

13. TK2 mutations have been identified in four patients from two families with myopathic mitochondrial DNA depletion and spinal muscular atrophy.

14. human thymidine kinase 2 has a role in mitochondrial DNA depletion myopathy as demonstrated by kinetic analysis

15. TK2 deficiency associated with myopathy and apparent reversion of mtDNA depletion noted in a 14-year-old patient in whom pathogenic mutations were identified in the TK2 gene

16. exon 5 is a "hot spot" for TK2 mutations in patients with myopathic mitochondrial DNA depletion syndrome

17. 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.

18. an increase in activity of dCK, TK1 and 2 might be involved in an adaptive response of cultured human squamous lung carcinoma cells to radiation by facilitation of DNA repair

19. import of cytosolic dNTPs in mitochondria of proliferating cells can compensate a TK2 induced imbalance of the mitochondrial dNTP pool

20. Using (124)I-FIAU, (18)F-FIAU, or (18)F-FEAU, it should be possible to image DeltahTK2 reporter gene expression with PET in preclinical and clinical studies.

Mouse (Murine) Thymidine Kinase 2, Mitochondrial (TK2) Interaktionspartner

1. thymidine kinase 2 but not deoxyguanosine kinase is up-regulated during the stationary growth phase of cultured cells

2. Data indicate that long term Dm-dNK ( nucleoside kinase from Drosophila melanogaster) expression rescued thymidine kinase 2 (Tk2)-deficient mice without lethal side effects.

3. Thymidine kinase 2 deficiency-induced mtDNA depletion in mouse liver leads to defect beta-oxidation.

4. TK2 deficiency disturbs myogenic progenitor cells function in postnatal skeletal muscle

5. analysis of transcripts encoding up to fourteen components of specific adipose tissue functions revealed that, in both TK2-deficient WAT and BAT, there was a consistent reduction of thermogenesis related gene expression and severe reduction in leptin mRNA

6. The down-regulation of Tk1 activity unmasks Tk2 deficiency in Tk2-/- mice and correlates with the onset of mtDNA depletion in the brain and the heart.

7. blood cells are less dependent on mitochondrial Tk2 compared with several other tissues; these cells can synthesize deoxyribonucleotides required for mtDNA replication by alternative pathways such as phosphorylation of thymidine by cytosolic Tk1

8. Loss of TK2 activity leads to a severe ataxic phenotype, accompanied by reduced mtDNA copy number and decreased steady-state levels of electron transport chain proteins in the brain.

9. Tk2 has a major role in supplying deoxyribonucleotides for mtDNA replication and other pathways of deoxyribonucleotide synthesis cannot compensate for loss of this enzyme.

10. Tk2(-/-) animals showed Tk2 deficiency, unbalanced dNTP pools, mtDNA depletion and defects of respiratory chain enzymes.