A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome

Ugalde, 2004, Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency, Hum. Mol. Genet., 13, 659, 10.1093/hmg/ddh071 Hirst, 2003, The nuclear encoded subunits of complex I from bovine heart mitochondria, Biochim. Biophys. Acta, 1604, 135, 10.1016/S0005-2728(03)00059-8 Blakely, 2006, Sporadic intragenic inversion of the mitochondrial DNA MTND1 gene causing fatal infantile lactic acidosis, Pediatr. Res., 59, 440, 10.1203/01.pdr.0000198771.78290.c4 Rustin, 1994, Biochemical and molecular investigations in respiratory chain deficiencies, Clin. Chim. Acta, 228, 35, 10.1016/0009-8981(94)90055-8 Nijtmans, 2002, Blue native electrophoresis to study mitochondrial and other protein complexes, Methods, 26, 327, 10.1016/S1046-2023(02)00038-5 Benit, 2001, Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency, Am. J. Hum. Genet., 68, 1344, 10.1086/320603 Loeffen, 2001, Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy, Ann. Neurol., 49, 195, 10.1002/1531-8249(20010201)49:2<195::AID-ANA39>3.0.CO;2-M Kirby, 2004, NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency, J. Clin. Invest., 114, 837, 10.1172/JCI20683 Triepels, 1999, Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I, Ann. Neurol., 45, 787, 10.1002/1531-8249(199906)45:6<787::AID-ANA13>3.0.CO;2-6 van den Heuvel, 1998, Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit, Am. J. Hum. Genet., 62, 262, 10.1086/301716 Benit, 2003, Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy, Hum. Mutat., 21, 582, 10.1002/humu.10225 Benit, 2004, Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome, J. Med. Genet., 41, 14, 10.1136/jmg.2003.014316 Ugalde, 2004, Human mitochondrial complex I assembles through the combination of evolutionary conserved modules: a framework to interpret complex I deficiencies, Hum. Mol. Genet., 13, 2461, 10.1093/hmg/ddh262 Antonicka, 2003, Identification and characterization of a common set of complex I assembly intermediates in mitochondria from patients with complex I deficiency, J. Biol. Chem., 278, 43081, 10.1074/jbc.M304998200 Duarte, 2002, Disruption of iron-sulphur cluster N2 from NADH: ubiquinone oxidoreductase by site-directed mutagenesis, Biochem. J., 364, 833, 10.1042/bj20011750 Lebon, 2007, A novel mutation in the human complex I NDUFS7 subunit associated with Leigh syndrome, Mol. Genet. Metab., 90, 379, 10.1016/j.ymgme.2006.12.007 Ahlers, 2000, Application of the obligate aerobic yeast Yarrowia lipolytica as a eucaryotic model to analyse Leigh syndrome mutations in the complex I core subunits PSST and TYKY, Biochim. Biophys. Acta, 1459, 258, 10.1016/S0005-2728(00)00160-2 Benit, 2003, Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt-1) in the NDUFS4 gene in Leigh syndrome, Hum. Genet., 112, 563, 10.1007/s00439-002-0884-2