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Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.
Wortmann SB, Vaz FM, Gardeitchik T, Vissers LE, Renkema GH, Schuurs-Hoeijmakers JH, Kulik W, Lammens M, Christin C, Kluijtmans LA, Rodenburg RJ, Nijtmans LG, Grünewald A, Klein C, Gerhold JM, Kozicz T, van Hasselt PM, Harakalova M, Kloosterman W, Barić I, Pronicka E, Ucar SK, Naess K, Singhal KK, Krumina Z, Gilissen C, van Bokhoven H, Veltman JA, Smeitink JA, Lefeber DJ, Spelbrink JN, Wevers RA, Morava E, de Brouwer AP. Wortmann SB, et al. Nat Genet. 2012 Jun 10;44(7):797-802. doi: 10.1038/ng.2325. Nat Genet. 2012. PMID: 22683713
Defective mitochondrial translation differently affects the live cell dynamics of complex I subunits.
Dieteren CE, Willems PH, Swarts HG, Fransen J, Smeitink JA, Koopman WJ, Nijtmans LG. Dieteren CE, et al. Biochim Biophys Acta. 2011 Dec;1807(12):1624-33. doi: 10.1016/j.bbabio.2011.09.013. Epub 2011 Sep 24. Biochim Biophys Acta. 2011. PMID: 21978538
Mitochondrial assembly in yeast.
Grivell LA, Artal-Sanz M, Hakkaart G, de Jong L, Nijtmans LG, van Oosterum K, Siep M, van der Spek H. Grivell LA, et al. FEBS Lett. 1999 Jun 4;452(1-2):57-60. doi: 10.1016/s0014-5793(99)00532-3. FEBS Lett. 1999. PMID: 10376678 Review.
Altered kinetics of cytochrome c oxidase in a patient with severe mitochondrial encephalomyopathy.
Nijtmans LG, Barth PG, Lincke CR, Van Galen MJ, Zwart R, Klement P, Bolhuis PA, Ruitenbeek W, Wanders RJ, Van den Bogert C. Nijtmans LG, et al. Biochim Biophys Acta. 1995 Apr 24;1270(2-3):193-201. doi: 10.1016/0925-4439(95)00044-5. Biochim Biophys Acta. 1995. PMID: 7727543
Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome.
Vreken P, Valianpour F, Nijtmans LG, Grivell LA, Plecko B, Wanders RJ, Barth PG. Vreken P, et al. Biochem Biophys Res Commun. 2000 Dec 20;279(2):378-82. doi: 10.1006/bbrc.2000.3952. Biochem Biophys Res Commun. 2000. PMID: 11118295
Analysis of 953 human proteins from a mitochondrial HEK293 fraction by complexome profiling.
Wessels HJ, Vogel RO, Lightowlers RN, Spelbrink JN, Rodenburg RJ, van den Heuvel LP, van Gool AJ, Gloerich J, Smeitink JA, Nijtmans LG. Wessels HJ, et al. PLoS One. 2013 Jul 23;8(7):e68340. doi: 10.1371/journal.pone.0068340. Print 2013. PLoS One. 2013. PMID: 23935861 Free PMC article.
C7orf30 specifically associates with the large subunit of the mitochondrial ribosome and is involved in translation.
Wanschers BF, Szklarczyk R, Pajak A, van den Brand MA, Gloerich J, Rodenburg RJ, Lightowlers RN, Nijtmans LG, Huynen MA. Wanschers BF, et al. Nucleic Acids Res. 2012 May;40(9):4040-51. doi: 10.1093/nar/gkr1271. Epub 2012 Jan 11. Nucleic Acids Res. 2012. PMID: 22238375 Free PMC article.
Mitochondrial complex III stabilizes complex I in the absence of NDUFS4 to provide partial activity.
Calvaruso MA, Willems P, van den Brand M, Valsecchi F, Kruse S, Palmiter R, Smeitink J, Nijtmans L. Calvaruso MA, et al. Hum Mol Genet. 2012 Jan 1;21(1):115-20. doi: 10.1093/hmg/ddr446. Epub 2011 Sep 28. Hum Mol Genet. 2012. PMID: 21965299
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