Publications

Recent publications

  1. Unraveling the complexity of mitochondrial complex I assembly; a dynamic process.Sánchez-Caballero L, Guerrero-Castillo S, Nijtmans L. Biochim Biophys Acta. 2016 Mar 31. pii: S0005-2728(16)30078-0. doi: 10.1016/j.bbabio.2016.03.031. [Epub ahead of print] PubMed PMID: 27040506.

  2. Increased mitochondrial ATP production capacity in brain of healthy mice and a mouse model of isolated complex I deficiency after isoflurane anesthesia. Manjeri GR, Rodenburg RJ, Blanchet L, Roelofs S, Nijtmans LG, Smeitink JA, Driessen JJ, Koopman WJ, Willems PH. J Inherit Metab Dis. 2015 Aug 27.

  3. Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy. Baertling F, A M van den Brand M, Hertecant JL, Al-Shamsi A, P van den Heuvel L, Distelmaier F, Mayatepek E, Smeitink JA, Nijtmans LG, Rodenburg RJ. Hum Mutat. 2015 Jan;36(1):34-8.

  4. 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. Hum Mol Genet. 2014 Dec 1;23(23):6356-65.

  5. Ribosome profiling reveals features of normal and disease-associated mitochondrial translation. Rooijers K, Loayza-Puch F, Nijtmans LG, Agami R. Nat Commun. 2013;4:2886.

  6. ACAD9, a complex I assembly factor with a moonlighting function in fatty acid oxidation deficiencies. Nouws J, Te Brinke H, Nijtmans LG, Houten SM. Hum Mol Genet. 2014 Mar 1;23(5):1311-9.

  7. A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment. Nouws J, Wibrand F, van den Brand M, Venselaar H, Duno M, Lund AM, Trautner S, Nijtmans L, Ostergard E. JIMD Rep. 2014;12:37-45.

  8. 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. PLoS One. 2013 Jul 23;8(7):e68340.

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