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Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology.
Jonckheere AI, Huigsloot M, Lammens M, Jansen J, van den Heuvel LP, Spiekerkoetter U, von Kleist-Retzow JC, Forkink M, Koopman WJ, Szklarczyk R, Huynen MA, Fransen JA, Smeitink JA, Rodenburg RJ. Jonckheere AI, et al. Among authors: huynen ma. Mitochondrion. 2011 Nov;11(6):954-63. doi: 10.1016/j.mito.2011.08.012. Epub 2011 Sep 14. Mitochondrion. 2011. PMID: 21945727
An anaerobic mitochondrion that produces hydrogen.
Boxma B, de Graaf RM, van der Staay GW, van Alen TA, Ricard G, Gabaldón T, van Hoek AH, Moon-van der Staay SY, Koopman WJ, van Hellemond JJ, Tielens AG, Friedrich T, Veenhuis M, Huynen MA, Hackstein JH. Boxma B, et al. Among authors: huynen ma. Nature. 2005 Mar 3;434(7029):74-9. doi: 10.1038/nature03343. Nature. 2005. PMID: 15744302
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.
246 results