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16 results

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Page 1
FASTKD5 processes mitochondrial pre-mRNAs at noncanonical cleavage sites.
Antonicka H, Vučković A, Weraarpachai W, Hong S, Brischigliaro M, Ahn A, Barrientos A, Hillen HS, Shoubridge EA. Antonicka H, et al. Among authors: weraarpachai w. Nucleic Acids Res. 2025 Jul 8;53(13):gkaf665. doi: 10.1093/nar/gkaf665. Nucleic Acids Res. 2025. PMID: 40637235 Free PMC article.
Bi-allelic mutations in FASTKD5 are associated with cytochrome c oxidase deficiency and early- to late-onset Leigh syndrome.
Antonicka H, Weraarpachai W, Szigety KM, Kopajtich R, Gibson JB, Van Hove JLK, Friederich MW, Lopriore P, Neuhofer C, Van Hove RA, Cole MA, Reisdorph R, Peterson JT, Dempsey KJ, Ganetzky RD, Mancuso M, Prokisch H, Shoubridge EA. Antonicka H, et al. Among authors: weraarpachai w. Am J Hum Genet. 2025 Jul 3;112(7):1699-1710. doi: 10.1016/j.ajhg.2025.05.007. Epub 2025 Jun 10. Am J Hum Genet. 2025. PMID: 40499538 Free PMC article.
A High-Density Human Mitochondrial Proximity Interaction Network.
Antonicka H, Lin ZY, Janer A, Aaltonen MJ, Weraarpachai W, Gingras AC, Shoubridge EA. Antonicka H, et al. Among authors: weraarpachai w. Cell Metab. 2020 Sep 1;32(3):479-497.e9. doi: 10.1016/j.cmet.2020.07.017. Cell Metab. 2020. PMID: 32877691 Free article.
Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype.
La Piana R, Weraarpachai W, Ospina LH, Tetreault M, Majewski J; Care4Rare Canada Consortium; Bruce Pike G, Decarie JC, Tampieri D, Brais B, Shoubridge EA. La Piana R, et al. Among authors: weraarpachai w. Neurogenetics. 2017 Apr;18(2):97-103. doi: 10.1007/s10048-016-0506-0. Epub 2017 Jan 5. Neurogenetics. 2017. PMID: 28058511
The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.
Sasarman F, Thiffault I, Weraarpachai W, Salomon S, Maftei C, Gauthier J, Ellazam B, Webb N, Antonicka H, Janer A, Brunel-Guitton C, Elpeleg O, Mitchell G, Shoubridge EA. Sasarman F, et al. Among authors: weraarpachai w. Hum Mol Genet. 2015 May 15;24(10):2841-7. doi: 10.1093/hmg/ddv044. Epub 2015 Feb 4. Hum Mol Genet. 2015. PMID: 25652405 Free PMC article.
16 results