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A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability.
Wanschers BF, Szklarczyk R, van den Brand MA, Jonckheere A, Suijskens J, Smeets R, Rodenburg RJ, Stephan K, Helland IB, Elkamil A, Rootwelt T, Ott M, van den Heuvel L, Nijtmans LG, Huynen MA. Wanschers BF, et al. Among authors: huynen ma. Hum Mol Genet. 2014 Dec 1;23(23):6356-65. doi: 10.1093/hmg/ddu357. Epub 2014 Jul 9. Hum Mol Genet. 2014. PMID: 25008109
Reconstructing the evolution of the mitochondrial ribosomal proteome.
Smits P, Smeitink JA, van den Heuvel LP, Huynen MA, Ettema TJ. Smits P, et al. Among authors: huynen ma. Nucleic Acids Res. 2007;35(14):4686-703. doi: 10.1093/nar/gkm441. Epub 2007 Jun 29. Nucleic Acids Res. 2007. PMID: 17604309 Free PMC article.
Complex fate of paralogs.
Szklarczyk R, Huynen MA, Snel B. Szklarczyk R, et al. Among authors: huynen ma. BMC Evol Biol. 2008 Dec 18;8:337. doi: 10.1186/1471-2148-8-337. BMC Evol Biol. 2008. PMID: 19094234 Free PMC article.
Mitochondrial proteome evolution and genetic disease.
Huynen MA, de Hollander M, Szklarczyk R. Huynen MA, et al. Biochim Biophys Acta. 2009 Dec;1792(12):1122-9. doi: 10.1016/j.bbadis.2009.03.005. Epub 2009 Mar 26. Biochim Biophys Acta. 2009. PMID: 19328849 Free article. Review.
Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.
Saada A, Vogel RO, Hoefs SJ, van den Brand MA, Wessels HJ, Willems PH, Venselaar H, Shaag A, Barghuti F, Reish O, Shohat M, Huynen MA, Smeitink JA, van den Heuvel LP, Nijtmans LG. Saada A, et al. Among authors: huynen ma. Am J Hum Genet. 2009 Jun;84(6):718-27. doi: 10.1016/j.ajhg.2009.04.020. Epub 2009 May 21. Am J Hum Genet. 2009. PMID: 19463981 Free PMC article.
Mosaic origin of the mitochondrial proteome.
Szklarczyk R, Huynen MA. Szklarczyk R, et al. Among authors: huynen ma. Proteomics. 2010 Nov;10(22):4012-24. doi: 10.1002/pmic.201000329. Epub 2010 Nov 3. Proteomics. 2010. PMID: 21080492 Review.
240 results