Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy
نویسندگان
چکیده
منابع مشابه
Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency
Autosomal recessive mutations in the thymidine kinase 2 gene (TK2) cause mitochondrial DNA depletion, multiple deletions, or both due to loss of TK2 enzyme activity and ensuing unbalanced deoxynucleotide triphosphate (dNTP) pools. To bypass Tk2 deficiency, we administered deoxycytidine and deoxythymidine monophosphates (dCMP+dTMP) to the Tk2 H126N (Tk2(-/-)) knock-in mouse model from postnatal ...
متن کاملHuman Thymidine Kinase
Cytosolic thymidine kinase (EC 2.7.1.21) has been purified 5200-fold to apparent homogeneity from normal human placenta. The purification includes sequential affinity chromatography on blue-Sepharose and a thymidine column. The molecular weight of the enzyme determined by gel filtration and sucrose density ultracentrifugation is 92,000. The subunit molecular weight is 44,000, suggesting that t...
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In mammalian cells, there are three pyrimidine nucleoside salvage enzymes with the capacity to phosphorylate all four deoxynucleosides, the two thymidine kinase isoenzymes, TK1 and TK2, and the deoxycytidine kinase, dCK. TK1 is cell cycle-regulated; TK2 is expressed constitutively and can phosphorylate deoxycytidine to the same extent as thymidine. dCK phosphorylates deoxycytidine, deoxyadenosi...
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5'-O-Trityl derivatives of thymidine (dThd), (E)-5-(2-bromovinyl)-2'-deoxyuridine (BVDU), and their acyclic analogs 1-[(Z)-4-triphenylmethoxy-2-butenyl]thymine (KIN-12) and (E)-5-(2-bromovinyl)-1-[(Z)-4-triphenylmethoxy-2-butenyl]uracil (KIN-52) have been synthesized and evaluated for their inhibitory activity against the amino acid sequence related mitochondrial dThd kinase (TK-2), herpes simp...
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The thymidine kinases (TK) of alphaherpesviruses phosphorylate nucleosides, allowing viral replication in non-dividing cells. They also phosphorylate acyclovir (ACV), a specific antiviral when modified. Despite encoding a TK homolog, Kaposi’s sarcoma-associated herpesvirus (KSHV), a gammaherpesvirus, is relatively immune to the effects of ACV. In this issue, Gill et al (2015) show that rather t...
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ژورنال
عنوان ژورنال: Annals of Neurology
سال: 2019
ISSN: 0364-5134,1531-8249
DOI: 10.1002/ana.25506