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...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Ann Neurol
Asıl Yazarlar: Lopez-Gomez, Carlos, Levy, Rebecca J, Sanchez-Quintero, Maria J, Juanola-Falgarona, Marti, Barca, Emanuele, Garcia-Diaz, Beatriz, Tadesse, Saba, Garone, Caterina, Hirano, Michio
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2017
Konular:
Article
Online Erişim: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
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller