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Sideroflexin 4 is a complex I assembly factor that interacts with the MCIA complex and is required for the assembly of the ND2 module.
Jackson TD, Crameri JJ, Muellner-Wong L, Frazier AE, Palmer CS, Formosa LE, Hock DH, Fujihara KM, Stait T, Sharpe AJ, Thorburn DR, Ryan MT, Stroud DA, Stojanovski D. Jackson TD, et al. Among authors: formosa le. Proc Natl Acad Sci U S A. 2022 Mar 29;119(13):e2115566119. doi: 10.1073/pnas.2115566119. Epub 2022 Mar 25. Proc Natl Acad Sci U S A. 2022. PMID: 35333655 Free PMC article.
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype.
Alston CL, Compton AG, Formosa LE, Strecker V, Oláhová M, Haack TB, Smet J, Stouffs K, Diakumis P, Ciara E, Cassiman D, Romain N, Yarham JW, He L, De Paepe B, Vanlander AV, Seneca S, Feichtinger RG, Płoski R, Rokicki D, Pronicka E, Haller RG, Van Hove JL, Bahlo M, Mayr JA, Van Coster R, Prokisch H, Wittig I, Ryan MT, Thorburn DR, Taylor RW. Alston CL, et al. Among authors: formosa le. Am J Hum Genet. 2016 Jul 7;99(1):217-27. doi: 10.1016/j.ajhg.2016.05.021. Epub 2016 Jun 30. Am J Hum Genet. 2016. PMID: 27374774 Free PMC article.
Mitochondrial OXPHOS complex assembly lines.
Formosa LE, Ryan MT. Formosa LE, et al. Nat Cell Biol. 2018 May;20(5):511-513. doi: 10.1038/s41556-018-0098-z. Nat Cell Biol. 2018. PMID: 29662174 No abstract available.
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