Heterozygous p.Y955C mutation in DNA polymerase γ leads to alterations in bioenergetics, complex I subunit expression, and mtDNA replication

In human cells, ATP is generated using oxidative phosphorylation machinery, which is inoperable without proteins encoded by mitochondrial DNA (mtDNA). The DNA polymerase gamma (Polγ) repairs and replicates the multicopy mtDNA genome in concert with additional factors. The Polγ catalytic subunit is e...

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Detalles Bibliográficos
Autores principales: Rahman, Md. Mostafijur, Young, Carolyn K.J., Goffart, Steffi, Pohjoismäki, Jaakko L.O., Young, Matthew J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Biochemistry and Molecular Biology 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9307957/
https://www.ncbi.nlm.nih.gov/pubmed/35760101
http://dx.doi.org/10.1016/j.jbc.2022.102196

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9307957/
https://www.ncbi.nlm.nih.gov/pubmed/35760101
http://dx.doi.org/10.1016/j.jbc.2022.102196

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