Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh Syndrome
Tài liệu tham khảo
Triepels, 2001, Respiratory chain complex I deficiency, Am. J. Med. Genet., 106, 37, 10.1002/ajmg.1397
Carroll, 2003, Analysis of the subunit composition of complex I from bovine heart mitochondria, Mol. Cell. Proteomics, 2, 117, 10.1074/mcp.M300014-MCP200
Carelli, 2004, Bioenergetics shapes cellular death pathways in Leber’s hereditary optic neuropathy: a model of mitochondrial neurodegeneration, Biochim. Biophys. Acta, 1658, 172, 10.1016/j.bbabio.2004.05.009
De Vries, 1996, Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia, Am. J. Hum. Genet., 58, 703
Kirby, 2000, Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families, Ann. Neurol., 48, 102, 10.1002/1531-8249(200007)48:1<102::AID-ANA15>3.0.CO;2-M
Pulkes, 1999, The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS, Ann. Neurol., 46, 916, 10.1002/1531-8249(199912)46:6<916::AID-ANA16>3.0.CO;2-R
Andreu, 1999, Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene, Ann. Neurol., 45, 820, 10.1002/1531-8249(199906)45:6<820::AID-ANA22>3.0.CO;2-W
Brown, 1992, Mitochondrial DNA complex I and III mutations associated with Leber’s hereditary optic neuropathy, Genetics, 130, 163, 10.1093/genetics/130.1.163
Schwartz, 2002, Paternal inheritance of mitochondrial DNA, N. Engl. J. Med., 347, 576, 10.1056/NEJMoa020350
King, 1996, Mitochondria-mediated transformation of human rho(0) cells, Methods Enzymol., 264, 313, 10.1016/S0076-6879(96)64030-0
Finnila, 2000, Phylogenetic network of the mtDNA haplogroup U in Northern Finland based on sequence analysis of the complete coding region by conformation-sensitive gel electrophoresis, Am. J. Hum. Genet., 66, 1017, 10.1086/302802
Hinttala, 2006, Analysis of mitochondrial DNA sequences in children with isolated or combined oxidative phosphorylation system deficiency, J. Med. Genet., 10.1136/jmg.2006.042168
Andrews, 1999, Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA, Nat. Genet., 23, 147, 10.1038/13779
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
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
