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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: valenzuela s. 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: valenzuela s. 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.
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.
Erdinc D, Rodríguez-Luis A, Fassad MR, Mackenzie S, Watson CM, Valenzuela S, Xie X, Menger KE, Sergeant K, Craig K, Hopton S, Falkous G; Genomics England Research Consortium; Poulton J, Garcia-Moreno H, Giunti P, de Moura Aschoff CA, Morales Saute JA, Kirby AJ, Toro C, Wolfe L, Novacic D, Greenbaum L, Eliyahu A, Barel O, Anikster Y, McFarland R, Gorman GS, Schaefer AM, Gustafsson CM, Taylor RW, Falkenberg M, Nicholls TJ. Erdinc D, et al. Among authors: valenzuela s. EMBO Mol Med. 2023 May 8;15(5):e16775. doi: 10.15252/emmm.202216775. Epub 2023 Apr 4. EMBO Mol Med. 2023. PMID: 37013609 Free PMC article.
Copper Chaperone Atox1 Interacts with Cell Cycle Proteins.
Matson Dzebo M, Blockhuys S, Valenzuela S, Celauro E, Esbjörner EK, Wittung-Stafshede P. Matson Dzebo M, et al. Among authors: valenzuela s. Comput Struct Biotechnol J. 2018 Oct 31;16:443-449. doi: 10.1016/j.csbj.2018.10.018. eCollection 2018. Comput Struct Biotechnol J. 2018. PMID: 30455854 Free PMC article.
The copper chaperone CCS facilitates copper binding to MEK1/2 to promote kinase activation.
Grasso M, Bond GJ, Kim YJ, Boyd S, Matson Dzebo M, Valenzuela S, Tsang T, Schibrowsky NA, Alwan KB, Blackburn NJ, Burslem GM, Wittung-Stafshede P, Winkler DD, Marmorstein R, Brady DC. Grasso M, et al. Among authors: valenzuela s. J Biol Chem. 2021 Dec;297(6):101314. doi: 10.1016/j.jbc.2021.101314. Epub 2021 Oct 27. J Biol Chem. 2021. PMID: 34715128 Free PMC article.
Diagnostic support in pediatric craniopharyngioma using deep learning.
Castiglioni G, Vallejos J, Intriago J, Hernández MI, Valenzuela S, Fernández J, Castro I, Valenzuela S, Estévez PA, Okuma C. Castiglioni G, et al. Among authors: valenzuela s. Childs Nerv Syst. 2024 Apr 22. doi: 10.1007/s00381-024-06400-0. Online ahead of print. Childs Nerv Syst. 2024. PMID: 38647660
296 results