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Disease causing mutation (P178L) in mitochondrial transcription factor A results in impaired mitochondrial transcription initiation.
Mehmedović M, Martucci M, Spåhr H, Ishak L, Mishra A, Sanchez-Sandoval ME, Pardo-Hernández C, Peter B, van den Wildenberg SM, Falkenberg M, Farge G. Mehmedović M, et al. Among authors: pardo hernandez c. Biochim Biophys Acta Mol Basis Dis. 2022 Oct 1;1868(10):166467. doi: 10.1016/j.bbadis.2022.166467. Epub 2022 Jun 15. Biochim Biophys Acta Mol Basis Dis. 2022. PMID: 35716868 Free article.
DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion.
Silva-Pinheiro P, Pardo-Hernández C, Reyes A, Tilokani L, Mishra A, Cerutti R, Li S, Rozsivalova DH, Valenzuela S, Dogan SA, Peter B, Fernández-Silva P, Trifunovic A, Prudent J, Minczuk M, Bindoff L, Macao B, Zeviani M, Falkenberg M, Viscomi C. Silva-Pinheiro P, et al. Among authors: pardo hernandez c. Nucleic Acids Res. 2021 May 21;49(9):5230-5248. doi: 10.1093/nar/gkab282. Nucleic Acids Res. 2021. PMID: 33956154 Free PMC article.
Correction to 'DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion'.
Silva-Pinheiro P, Pardo-Hernández C, Reyes A, Tilokani L, Mishra A, Cerutti R, Li S, Rozsivalova DH, Valenzuela S, Dogan SA, Peter B, Fernández-Silva P, Trifunovic A, Prudent J, Minczuk M, Bindoff L, Macao B, Zeviani M, Falkenberg M, Viscomi C. Silva-Pinheiro P, et al. Among authors: pardo hernandez c. Nucleic Acids Res. 2021 Oct 11;49(18):10803. doi: 10.1093/nar/gkab837. Nucleic Acids Res. 2021. PMID: 34520541 Free PMC article. No abstract available.