DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion

Mutations in POLG, encoding POLγA, the catalytic subunit of the mitochondrial DNA polymerase, cause a spectrum of disorders characterized by mtDNA instability. However, the molecular pathogenesis of POLG-related diseases is poorly understood and efficient treatments are missing. Here, we generate th...

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Bibliografische gegevens
Gepubliceerd in:Nucleic Acids Res
Hoofdauteurs: Silva-Pinheiro, Pedro, Pardo-Hernández, Carlos, Reyes, Aurelio, Tilokani, Lisa, Mishra, Anup, Cerutti, Raffaele, Li, Shuaifeng, Rozsivalova, Dieu-Hien, Valenzuela, Sebastian, Dogan, Sukru A, Peter, Bradley, Fernández-Silva, Patricio, Trifunovic, Aleksandra, Prudent, Julien, Minczuk, Michal, Bindoff, Laurence, Macao, Bertil, Zeviani, Massimo, Falkenberg, Maria, Viscomi, Carlo
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Oxford University Press 2021
Onderwerpen:
Nucleic Acid Enzymes
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8136776/
https://ncbi.nlm.nih.gov/pubmed/33956154
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkab282
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