Smeitink JA - Search Results

1

Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease.

Pello R, Martín MA, Carelli V, Nijtmans LG, Achilli A, Pala M, Torroni A, Gómez-Durán A, Ruiz-Pesini E, Martinuzzi A, Smeitink JA, Arenas J, Ugalde C. Pello R, et al. Among authors: smeitink ja. Hum Mol Genet. 2008 Dec 15;17(24):4001-11. doi: 10.1093/hmg/ddn303. Epub 2008 Sep 19. Hum Mol Genet. 2008. PMID: 18806273

2

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: smeitink ja. 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

3

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: smeitink ja. 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

4

X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.

Fernandez-Moreira D, Ugalde C, Smeets R, Rodenburg RJ, Lopez-Laso E, Ruiz-Falco ML, Briones P, Martin MA, Smeitink JA, Arenas J. Fernandez-Moreira D, et al. Among authors: smeitink ja. Ann Neurol. 2007 Jan;61(1):73-83. doi: 10.1002/ana.21036. Ann Neurol. 2007. PMID: 17262856

5

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

Vogel RO, Smeitink JA, Nijtmans LG. Vogel RO, et al. Among authors: smeitink ja. 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.

6

A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy.

Huigsloot M, Nijtmans LG, Szklarczyk R, Baars MJ, van den Brand MA, Hendriksfranssen MG, van den Heuvel LP, Smeitink JA, Huynen MA, Rodenburg RJ. Huigsloot M, et al. Among authors: smeitink ja. Am J Hum Genet. 2011 Apr 8;88(4):488-93. doi: 10.1016/j.ajhg.2011.03.002. Epub 2011 Mar 31. Am J Hum Genet. 2011. PMID: 21457908 Free PMC article.

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

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

9

Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options.

Nouws J, Nijtmans LG, Smeitink JA, Vogel RO. Nouws J, et al. Among authors: smeitink ja. Brain. 2012 Jan;135(Pt 1):12-22. doi: 10.1093/brain/awr261. Epub 2011 Oct 27. Brain. 2012. PMID: 22036961 Review.

10

Mitochondrial complex I: structure, function and pathology.

Janssen RJ, Nijtmans LG, van den Heuvel LP, Smeitink JA. Janssen RJ, et al. Among authors: smeitink ja. 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.

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