Impact of N221S missense mutation in human ribonucleotide reductase small subunit b on mitochondrial DNA depletion syndrome

The impact of N221S mutation in hRRM2B gene, which encodes the small subunit of human ribonucleotide reductase (RNR), on RNR activity and the pathogenesis of mitochondrial DNA depletion syndrome (MDDS) was investigated. Our results demonstrate that N221 mutations significantly reduce RNR activity, s...

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Detalles Bibliográficos
Autores principales: Su, Leila, Wang, Xin, Wang, Jianghai, Luh, Frank, Yen, Yun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10645729/
https://www.ncbi.nlm.nih.gov/pubmed/37964013
http://dx.doi.org/10.1038/s41598-023-47284-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10645729/
https://www.ncbi.nlm.nih.gov/pubmed/37964013
http://dx.doi.org/10.1038/s41598-023-47284-5

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