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 deoxythym...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Main Authors: Garone, Caterina, Garcia-Diaz, Beatriz, Emmanuele, Valentina, Lopez, Luis C, Tadesse, Saba, Akman, Hasan O, Tanji, Kurenai, Quinzii, Catarina M, Hirano, Michio
Format: Artigo
Sprog:Inglês
Udgivet: BlackWell Publishing Ltd 2014
Fag:
Research Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4154130/
https://ncbi.nlm.nih.gov/pubmed/24968719
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15252/emmm.201404092
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker