A carregar...

Deoxycytidine and deoxythymidine treatment for thymidine kinase 2 deficiency

OBJECTIVE: Thymidine kinase 2 (TK2), a critical enzyme in the mitochondrial pyrimidine salvage pathway, is essential for mitochondrial DNA (mtDNA) maintenance. Mutations in the nuclear gene TK2 cause TK2 deficiency, which manifests predominantly in children as myopathy with mtDNA depletion. Molecula...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Ann Neurol
Main Authors: Lopez-Gomez, Carlos, Levy, Rebecca J, Sanchez-Quintero, Maria J, Juanola-Falgarona, Marti, Barca, Emanuele, Garcia-Diaz, Beatriz, Tadesse, Saba, Garone, Caterina, Hirano, Michio
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5926768/
https://ncbi.nlm.nih.gov/pubmed/28318037
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.24922
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!