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Page 1
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.
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.
16 results