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Loss of sdhb in zebrafish larvae recapitulates human paraganglioma characteristics.
Dona M, Waaijers S, Richter S, Eisenhofer G, Korving J, Kamel SM, Bakkers J, Rapizzi E, Rodenburg RJ, Zethof J, Gorissen M, Flik G, Deen PMT, Timmers HJLM. Dona M, et al. Among authors: rodenburg rj. Endocr Relat Cancer. 2021 Jan;28(1):65-77. doi: 10.1530/ERC-20-0308. Endocr Relat Cancer. 2021. PMID: 33156815
Genotype-specific abnormalities in mitochondrial function associate with distinct profiles of energy metabolism and catecholamine content in pheochromocytoma and paraganglioma.
Rao JU, Engelke UF, Rodenburg RJ, Wevers RA, Pacak K, Eisenhofer G, Qin N, Kusters B, Goudswaard AG, Lenders JW, Hermus AR, Mensenkamp AR, Kunst HP, Sweep FC, Timmers HJ. Rao JU, et al. Among authors: rodenburg rj. Clin Cancer Res. 2013 Jul 15;19(14):3787-95. doi: 10.1158/1078-0432.CCR-12-3922. Epub 2013 May 30. Clin Cancer Res. 2013. PMID: 23723300 Free PMC article.
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: rodenburg rj. 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.
A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndrome.
Ngu LH, Nijtmans LG, Distelmaier F, Venselaar H, van Emst-de Vries SE, van den Brand MA, Stoltenborg BJ, Wintjes LT, Willems PH, van den Heuvel LP, Smeitink JA, Rodenburg RJ. Ngu LH, et al. Among authors: rodenburg rj. Biochim Biophys Acta. 2012 Feb;1822(2):168-75. doi: 10.1016/j.bbadis.2011.10.012. Epub 2011 Oct 20. Biochim Biophys Acta. 2012. PMID: 22036843 Free article.
Metabolic consequences of NDUFS4 gene deletion in immortalized mouse embryonic fibroblasts.
Valsecchi F, Monge C, Forkink M, de Groof AJ, Benard G, Rossignol R, Swarts HG, van Emst-de Vries SE, Rodenburg RJ, Calvaruso MA, Nijtmans LG, Heeman B, Roestenberg P, Wieringa B, Smeitink JA, Koopman WJ, Willems PH. Valsecchi F, et al. Among authors: rodenburg rj. Biochim Biophys Acta. 2012 Oct;1817(10):1925-36. doi: 10.1016/j.bbabio.2012.03.006. Epub 2012 Mar 11. Biochim Biophys Acta. 2012. PMID: 22430089 Free article.
Modulation of oxidative phosphorylation and redox homeostasis in mitochondrial NDUFS4 deficiency via mesenchymal stem cells.
Melcher M, Danhauser K, Seibt A, Degistirici Ö, Baertling F, Kondadi AK, Reichert AS, Koopman WJH, Willems PHGM, Rodenburg RJ, Mayatepek E, Meisel R, Distelmaier F. Melcher M, et al. Among authors: rodenburg rj. Stem Cell Res Ther. 2017 Jun 24;8(1):150. doi: 10.1186/s13287-017-0601-7. Stem Cell Res Ther. 2017. PMID: 28646906 Free PMC article.
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: rodenburg rj. 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
257 results