Nijtmans LG - Search Results

1

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.

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

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.

4

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

5

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

6

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

7

Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome.

Ugalde C, Hinttala R, Timal S, Smeets R, Rodenburg RJ, Uusimaa J, van Heuvel LP, Nijtmans LG, Majamaa K, Smeitink JA. Ugalde C, et al. Among authors: nijtmans lg. Mol Genet Metab. 2007 Jan;90(1):10-4. doi: 10.1016/j.ymgme.2006.08.003. Epub 2006 Sep 22. Mol Genet Metab. 2007. PMID: 16996290

8

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.

9

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.

10

Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients.

Vogel RO, van den Brand MA, Rodenburg RJ, van den Heuvel LP, Tsuneoka M, Smeitink JA, Nijtmans LG. Vogel RO, et al. Among authors: nijtmans lg. Mol Genet Metab. 2007 Jun;91(2):176-82. doi: 10.1016/j.ymgme.2007.02.007. Epub 2007 Mar 26. Mol Genet Metab. 2007. PMID: 17383918

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