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TMEM70 functions in the assembly of complexes I and V.
Sánchez-Caballero L, Elurbe DM, Baertling F, Guerrero-Castillo S, van den Brand M, van Strien J, van Dam TJP, Rodenburg R, Brandt U, Huynen MA, Nijtmans LGJ. Sánchez-Caballero L, et al. Among authors: huynen ma. Biochim Biophys Acta Bioenerg. 2020 Aug 1;1861(8):148202. doi: 10.1016/j.bbabio.2020.148202. Epub 2020 Apr 7. Biochim Biophys Acta Bioenerg. 2020. PMID: 32275929 Free article.
Shaping the mitochondrial proteome.
Gabaldón T, Huynen MA. Gabaldón T, et al. Among authors: huynen ma. Biochim Biophys Acta. 2004 Dec 6;1659(2-3):212-20. doi: 10.1016/j.bbabio.2004.07.011. Biochim Biophys Acta. 2004. PMID: 15576054 Free article. Review.
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.
TEFM (c17orf42) is necessary for transcription of human mtDNA.
Minczuk M, He J, Duch AM, Ettema TJ, Chlebowski A, Dzionek K, Nijtmans LG, Huynen MA, Holt IJ. Minczuk M, et al. Among authors: huynen ma. Nucleic Acids Res. 2011 May;39(10):4284-99. doi: 10.1093/nar/gkq1224. Epub 2011 Jan 28. Nucleic Acids Res. 2011. PMID: 21278163 Free PMC article.
NDUFB7 and NDUFA8 are located at the intermembrane surface of complex I.
Szklarczyk R, Wanschers BF, Nabuurs SB, Nouws J, Nijtmans LG, Huynen MA. Szklarczyk R, et al. Among authors: huynen ma. FEBS Lett. 2011 Mar 9;585(5):737-43. doi: 10.1016/j.febslet.2011.01.046. Epub 2011 Feb 22. FEBS Lett. 2011. PMID: 21310150 Free article.
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
240 results