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Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle.
Smits P, Antonicka H, van Hasselt PM, Weraarpachai W, Haller W, Schreurs M, Venselaar H, Rodenburg RJ, Smeitink JA, van den Heuvel LP. Smits P, et al. Among authors: van hasselt pm, van den heuvel lp. Eur J Hum Genet. 2011 Mar;19(3):275-9. doi: 10.1038/ejhg.2010.208. Epub 2010 Dec 1. Eur J Hum Genet. 2011. PMID: 21119709 Free PMC article.
Molecular base of biochemical complex I deficiency.
Hoefs SJ, Rodenburg RJ, Smeitink JA, van den Heuvel LP. Hoefs SJ, et al. Among authors: van den heuvel lp. Mitochondrion. 2012 Sep;12(5):520-32. doi: 10.1016/j.mito.2012.07.106. Epub 2012 Jul 20. Mitochondrion. 2012. PMID: 22820119 Review.
Inhibition of mitochondrial Na+-Ca2+ exchange restores agonist-induced ATP production and Ca2+ handling in human complex I deficiency.
Visch HJ, Rutter GA, Koopman WJ, Koenderink JB, Verkaart S, de Groot T, Varadi A, Mitchell KJ, van den Heuvel LP, Smeitink JA, Willems PH. Visch HJ, et al. Among authors: van den heuvel lp. J Biol Chem. 2004 Sep 24;279(39):40328-36. doi: 10.1074/jbc.M408068200. Epub 2004 Jul 21. J Biol Chem. 2004. PMID: 15269216 Free article.
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.
392 results