Nijtmans LG - Search Results

1

Identification of mitochondrial complex I assembly intermediates by tracing tagged NDUFS3 demonstrates the entry point of mitochondrial subunits.

Vogel RO, Dieteren CE, van den Heuvel LP, Willems PH, Smeitink JA, Koopman WJ, Nijtmans LG. Vogel RO, et al. Among authors: nijtmans lg. J Biol Chem. 2007 Mar 9;282(10):7582-90. doi: 10.1074/jbc.M609410200. Epub 2007 Jan 5. J Biol Chem. 2007. PMID: 17209039 Free article.

2

Mitochondrial complex I: structure, function and pathology.

Janssen RJ, Nijtmans LG, van den Heuvel LP, Smeitink JA. Janssen RJ, et al. Among authors: nijtmans lg. J Inherit Metab Dis. 2006 Aug;29(4):499-515. doi: 10.1007/s10545-006-0362-4. Epub 2006 Jul 11. J Inherit Metab Dis. 2006. PMID: 16838076 Review.

3

NDUFA2 complex I mutation leads to Leigh disease.

Hoefs SJ, Dieteren CE, Distelmaier F, Janssen RJ, Epplen A, Swarts HG, Forkink M, Rodenburg RJ, Nijtmans LG, Willems PH, Smeitink JA, van den Heuvel LP. Hoefs SJ, et al. Among authors: nijtmans lg. Am J Hum Genet. 2008 Jun;82(6):1306-15. doi: 10.1016/j.ajhg.2008.05.007. Am J Hum Genet. 2008. PMID: 18513682 Free PMC article.

4

Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency.

Hoefs SJ, Dieteren CE, Rodenburg RJ, Naess K, Bruhn H, Wibom R, Wagena E, Willems PH, Smeitink JA, Nijtmans LG, van den Heuvel LP. Hoefs SJ, et al. Among authors: nijtmans lg. Hum Mutat. 2009 Jul;30(7):E728-36. doi: 10.1002/humu.21037. Hum Mutat. 2009. PMID: 19384974

5

NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.

Hoefs SJ, van Spronsen FJ, Lenssen EW, Nijtmans LG, Rodenburg RJ, Smeitink JA, van den Heuvel LP. Hoefs SJ, et al. Among authors: nijtmans lg. Eur J Hum Genet. 2011 Mar;19(3):270-4. doi: 10.1038/ejhg.2010.204. Epub 2010 Dec 8. Eur J Hum Genet. 2011. PMID: 21150889 Free PMC article.

6

Complex I assembly: a puzzling problem.

Vogel R, Nijtmans L, Ugalde C, van den Heuvel L, Smeitink J. Vogel R, et al. Curr Opin Neurol. 2004 Apr;17(2):179-86. doi: 10.1097/00019052-200404000-00016. Curr Opin Neurol. 2004. PMID: 15021246

7

Human mitochondrial complex I assembles through the combination of evolutionary conserved modules: a framework to interpret complex I deficiencies.

Ugalde C, Vogel R, Huijbens R, Van Den Heuvel B, Smeitink J, Nijtmans L. Ugalde C, et al. Hum Mol Genet. 2004 Oct 15;13(20):2461-72. doi: 10.1093/hmg/ddh262. Epub 2004 Aug 18. Hum Mol Genet. 2004. PMID: 15317750

8

Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency.

Ugalde C, Janssen RJ, van den Heuvel LP, Smeitink JA, Nijtmans LG. Ugalde C, et al. Among authors: nijtmans lg. Hum Mol Genet. 2004 Mar 15;13(6):659-67. doi: 10.1093/hmg/ddh071. Epub 2004 Jan 28. Hum Mol Genet. 2004. PMID: 14749350

9

Human mitochondrial complex I assembly is mediated by NDUFAF1.

Vogel RO, Janssen RJ, Ugalde C, Grovenstein M, Huijbens RJ, Visch HJ, van den Heuvel LP, Willems PH, Zeviani M, Smeitink JA, Nijtmans LG. Vogel RO, et al. Among authors: nijtmans lg. FEBS J. 2005 Oct;272(20):5317-26. doi: 10.1111/j.1742-4658.2005.04928.x. FEBS J. 2005. PMID: 16218961 Free article.

10

Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly.

Vogel RO, Janssen RJ, van den Brand MA, Dieteren CE, Verkaart S, Koopman WJ, Willems PH, Pluk W, van den Heuvel LP, Smeitink JA, Nijtmans LG. Vogel RO, et al. Among authors: nijtmans lg. Genes Dev. 2007 Mar 1;21(5):615-24. doi: 10.1101/gad.408407. Genes Dev. 2007. PMID: 17344420 Free PMC article.

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