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PubMed (GeneRIF) for id: 57017

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Structure and functionality of a multimeric human COQ7:COQ9 complex.
Manicki M, Aydin H, Abriata LA, Overmyer KA, Guerra RM, Coon JJ, Dal Peraro M, Frost A, Pagliarini DJ. Manicki M, et al. Mol Cell. 2022 Nov 17;82(22):4307-4323.e10. doi: 10.1016/j.molcel.2022.10.003. Epub 2022 Oct 27. Mol Cell. 2022. PMID: 36306796 Free PMC article.
A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9.
Smith AC, Ito Y, Ahmed A, Schwartzentruber JA, Beaulieu CL, Aberg E, Majewski J, Bulman DE, Horsting-Wethly K, Koning DV; Care4Rare Canada Consortium; Rodenburg RJ, Boycott KM, Penney LS. Smith AC, et al. J Inherit Metab Dis. 2018 Jul;41(4):719-729. doi: 10.1007/s10545-017-0122-7. Epub 2018 Mar 20. J Inherit Metab Dis. 2018. PMID: 29560582
Mitochondrial COQ9 is a lipid-binding protein that associates with COQ7 to enable coenzyme Q biosynthesis.
Lohman DC, Forouhar F, Beebe ET, Stefely MS, Minogue CE, Ulbrich A, Stefely JA, Sukumar S, Luna-Sánchez M, Jochem A, Lew S, Seetharaman J, Xiao R, Wang H, Westphall MS, Wrobel RL, Everett JK, Mitchell JC, López LC, Coon JJ, Tong L, Pagliarini DJ. Lohman DC, et al. Proc Natl Acad Sci U S A. 2014 Nov 4;111(44):E4697-705. doi: 10.1073/pnas.1413128111. Epub 2014 Oct 22. Proc Natl Acad Sci U S A. 2014. PMID: 25339443 Free PMC article.
A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease.
Duncan AJ, Bitner-Glindzicz M, Meunier B, Costello H, Hargreaves IP, López LC, Hirano M, Quinzii CM, Sadowski MI, Hardy J, Singleton A, Clayton PT, Rahman S. Duncan AJ, et al. Am J Hum Genet. 2009 May;84(5):558-66. doi: 10.1016/j.ajhg.2009.03.018. Epub 2009 Apr 16. Am J Hum Genet. 2009. PMID: 19375058 Free PMC article.