Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency

Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency

Abstract 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...

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Bibliographic Details
Main Authors: Caterina Garone, Beatriz Garcia‐Diaz, Valentina Emmanuele, Luis C Lopez, Saba Tadesse, Hasan O Akman, Kurenai Tanji, Catarina M Quinzii, Michio Hirano
Format: Article
Language:English
Published: Springer Nature 2014-06-01
Series:EMBO Molecular Medicine
Subjects:
deoxycytidine monophosphate
deoxythymidine monophosphate
encephalomyopathy
therapy
thymidine kinase
Online Access:https://doi.org/10.15252/emmm.201404092
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https://doi.org/10.15252/emmm.201404092

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