A Stop-Codon Mutation in the Human mtDNA Cytochrome c Oxidase I Gene Disrupts the Functional Structure of Complex IV
Tài liệu tham khảo
Anderson, 1981, Sequence and organization of the human mitochondrial genome, Nature, 290, 457, 10.1038/290457a0
Andreu, 1998, Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy, Neurology, 51, 1444, 10.1212/WNL.51.5.1444
Broker, 1998, mtDNA mutations associated with sideroblastic anaemia cause a defect of mitochondrial cytochrome c oxidase, Eur J Biochem, 258, 132, 10.1046/j.1432-1327.1998.2580132.x
Chomyn, 1991, In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy patient mitochondria, Mol Cell Biol, 11, 2236
Comi, 1998, Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease, Ann Neurol, 43, 110, 10.1002/ana.410430119
DiMauro, 1997, Mitochondrial encephalomyopathies, 201
DiMauro, 1987, Cytochrome c oxydase deficiency in Leigh syndrome, Ann Neurol, 22, 498, 10.1002/ana.410220409
Gattermann, 1997, Heteroplasmic point mutation of mitochondrial DNA affecting subunit I of cytochrome c oxidase in two patients with acquired idiopathic sideroblastic anemia, Blood, 90, 4961, 10.1182/blood.V90.12.4961
Hanna, 1998, Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA, Am J Hum Genet, 63, 29, 10.1086/301910
Holt, 1988, Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies, Nature, 331, 717, 10.1038/331717a0
Holt, 1990, A new mitochondrial disease associated with mitochondrial DNA heteroplasmy, Am J Hum Genet, 46, 428
Houshmand, 1994, Automatic sequencing of mitochondrial tRNA genes in patients with mitochondrial encephalomyopathy, Biochim Biophys Acta, 1226, 49, 10.1016/0925-4439(94)90058-2
Keightley, 1996, A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria, Nat Genet, 12, 410, 10.1038/ng0496-410
King, 1989, Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation, Science, 246, 500, 10.1126/science.2814477
King, 1992, Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNALeu(UUR) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Mol Cell Biol, 12, 480
Lowry, 1951, Protein measurement with folin phenol reagent, J Biol Chem, 193, 265, 10.1016/S0021-9258(19)52451-6
Manfredi, 1995, A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene, Neuromusc Disord, 5, 391, 10.1016/0960-8966(94)00079-O
Marusich, 1997, Biochim Biophys Acta, 1362, 145, 10.1016/S0925-4439(97)00061-6
Marzuki, 1991, Normal variants of human mitochondrial DNA and translation products: the building of a reference data base, Hum Genet, 88, 139, 10.1007/BF00206061
Moraes, 1989, Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearn-Sayre syndrome, Biochem Biophys Res Commun, 160, 765, 10.1016/0006-291X(89)92499-6
Polyak, 1998, Somatic mutations of the mitochondrial genome in human colorectal tumors, Nat Genet, 20, 291, 10.1038/3108
Rieder, 1998, Automatic identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome, Nucleic Acid Res, 26, 967, 10.1093/nar/26.4.967
Robinson, 1996, Use of fibroblast and lymphoblast cultures for detection of respiratory chain defects, Methods Enzymol, 264, 454, 10.1016/S0076-6879(96)64041-5
Schägger, 1987, Tricine-sodium dodecyl sulfate-polyacrylamide gel electrophoresis for the separation of proteins in the range from 1 to 100 kDa, Anal Biochem, 166, 368, 10.1016/0003-2697(87)90587-2
Schon, 1997, Mitochondrial DNA mutations and pathogenesis, J Bioenerg Biomembr, 29, 131, 10.1023/A:1022685929755
Servidei, 1999, Mitochondrial encephalomyopathies: gene mutation, Neuromusc Dis, 9, XV
Shoubridge, 1996, Use of myoblast cultures to study mitochondrial myopathies, Methods Enzymol, 264, 465, 10.1016/S0076-6879(96)64042-7
Taanman, 1997, Human cytochrome c oxidase: structure, function, and deficiency, J Bioenerg Biomembr, 29, 151, 10.1023/A:1022638013825
Tiranti, 1998, Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency, Am J Hum Genet, 63, 1609, 10.1086/302150
Tritschler, 1991, Differential diagnosis of fatal and benign cytochrome c oxidase deficient myopathies of infancy: an immunohistochemical approach, Neurology, 41, 300, 10.1212/WNL.41.2_Part_1.300
Tsukihara, 1996, The whole structure of the 13-subunit oxidized cytochrome c oxidase at 2.8 Å, Science, 272, 1136, 10.1126/science.272.5265.1136
Wallace, 1988, Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy, Science, 242, 1427, 10.1126/science.3201231
Zhu, 1998, SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome, Nat Genet, 20, 337, 10.1038/3804