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Disease causing mutation (P178L) in mitochondrial transcription factor A results in impaired mitochondrial transcription initiation.
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.
Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE helicase.
Peter B, Farge G, Pardo-Hernandez C, Tångefjord S, Falkenberg M.
Peter B, et al. Among authors: pardo hernandez c.
Hum Mol Genet. 2019 Apr 1;28(7):1090-1099. doi: 10.1093/hmg/ddy415.
Hum Mol Genet. 2019.
PMID: 30496414
Free PMC article.
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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.
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Corrigendum to: Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE helicase.
Peter B, Farge G, Pardo-Hernandez C, Tångefjord S, Falkenberg M.
Peter B, et al. Among authors: pardo hernandez c.
Hum Mol Genet. 2020 Feb 1;29(3):528. doi: 10.1093/hmg/ddz257.
Hum Mol Genet. 2020.
PMID: 31942986
Free PMC article.
No abstract available.
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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.
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