Nalaganje...
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...
Shranjeno v:
| izdano v: | Ann Neurol |
|---|---|
| Main Authors: | , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
2017
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| Teme: | |
| Online dostop: | 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 |
| Oznake: |
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