Nijtmans L - Search Results

1

Disrupting mitochondrial-nuclear coevolution affects OXPHOS complex I integrity and impacts human health.

Gershoni M, Levin L, Ovadia O, Toiw Y, Shani N, Dadon S, Barzilai N, Bergman A, Atzmon G, Wainstein J, Tsur A, Nijtmans L, Glaser B, Mishmar D. Gershoni M, et al. Among authors: nijtmans l. Genome Biol Evol. 2014 Sep 22;6(10):2665-80. doi: 10.1093/gbe/evu208. Genome Biol Evol. 2014. PMID: 25245408 Free PMC article.

2

Mitochondrial complex I: structure, function and pathology.

Janssen RJ, Nijtmans LG, van den Heuvel LP, Smeitink JA. Janssen RJ, et al. 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

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. 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

4

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. 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.

5

Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies.

Hoefs SJ, Skjeldal OH, Rodenburg RJ, Nedregaard B, van Kaauwen EP, Spiekerkötter U, von Kleist-Retzow JC, Smeitink JA, Nijtmans LG, van den Heuvel LP. Hoefs SJ, et al. Mol Genet Metab. 2010 Jul;100(3):251-6. doi: 10.1016/j.ymgme.2010.03.015. Epub 2010 Mar 21. Mol Genet Metab. 2010. PMID: 20382551

6

Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects.

Smits P, Mattijssen S, Morava E, van den Brand M, van den Brandt F, Wijburg F, Pruijn G, Smeitink J, Nijtmans L, Rodenburg R, van den Heuvel L. Smits P, et al. Among authors: nijtmans l. Eur J Hum Genet. 2010 Mar;18(3):324-9. doi: 10.1038/ejhg.2009.169. Epub 2009 Oct 7. Eur J Hum Genet. 2010. PMID: 19809478 Free PMC article.

7

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. 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.

8

Human mitochondrial complex I assembly: a dynamic and versatile process.

Vogel RO, Smeitink JA, Nijtmans LG. Vogel RO, et al. Biochim Biophys Acta. 2007 Oct;1767(10):1215-27. doi: 10.1016/j.bbabio.2007.07.008. Epub 2007 Aug 9. Biochim Biophys Acta. 2007. PMID: 17854760 Free article. Review.

9

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 Free article.

10

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. FEBS J. 2005 Oct;272(20):5317-26. doi: 10.1111/j.1742-4658.2005.04928.x. FEBS J. 2005. PMID: 16218961 Free article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

120 results

Search Page

Filters