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Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene.
Coenen MJ, van den Heuvel LP, Ugalde C, Ten Brinke M, Nijtmans LG, Trijbels FJ, Beblo S, Maier EM, Muntau AC, Smeitink JA. Coenen MJ, et al. Among authors: van den heuvel lp. Ann Neurol. 2004 Oct;56(4):560-4. doi: 10.1002/ana.20229. Ann Neurol. 2004. PMID: 15455402
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: van den heuvel lp. FEBS J. 2005 Oct;272(20):5317-26. doi: 10.1111/j.1742-4658.2005.04928.x. FEBS J. 2005. PMID: 16218961 Free article.
Mitochondrial complex I: structure, function and pathology.
Janssen RJ, Nijtmans LG, van den Heuvel LP, Smeitink JA. Janssen RJ, et al. Among authors: van den heuvel lp. 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.
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: van den heuvel lp. 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.
389 results