Mitochondrial genetics and disease
Tài liệu tham khảo
Anderson, 1981, Sequence and organization of the human mitochondrial genome, Nature, 290, 457, 10.1038/290457a0
Tang, 2000, Maintenance of human rearranged mitochondrial DNAs in long-term cultured transmitochondrial cell lines, Mol. Biol. Cell, 11, 2349, 10.1091/mbc.11.7.2349
Holt, 1997, Behaviour of a population of partially duplicated mitochondrial DNA molecules in cell culture: segregation, maintenance and recombination dependent upon nuclear background, Hum. Mol. Genet., 6, 1251, 10.1093/hmg/6.8.1251
Tang, 2000, Rearrangements of human mitochondrial DNA (mtDNA): new insights into the regulation of mtDNA copy number and gene expression, Mol. Biol. Cell, 11, 1471, 10.1091/mbc.11.4.1471
Hirano, 2000, Defects of intergenomic communication: where do we stand?, Brain Pathol., 10, 451, 10.1111/j.1750-3639.2000.tb00277.x
DiMauro, 2000, Mutations in mtDNA: are we scraping the bottom of the barrel?, Brain Pathol., 10, 431, 10.1111/j.1750-3639.2000.tb00275.x
Sue, 2000, Mitochondrial respiratory chain diseases and mutations in nuclear DNA: a promising start?, Brain Pathol., 10, 442, 10.1111/j.1750-3639.2000.tb00276.x
Schon, 1997, Mitochondrial DNA mutations and pathogenesis, J. Bioenerg. Biomembr., 29, 131, 10.1023/A:1022685929755
Fischel-Ghodsian, 1999, Mitochondrial deafness mutations reviewed, Hum. Mutat., 13, 261, 10.1002/(SICI)1098-1004(1999)13:4<261::AID-HUMU1>3.0.CO;2-W
Chalmers, 1999, Clinical, biochemical and molecular genetic features of Leber's hereditary optic neuropathy, Biochim. Biophys. Acta, 1410, 147, 10.1016/S0005-2728(98)00163-7
Baysal, 2000, Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma, Science, 287, 848, 10.1126/science.287.5454.848
Fliss, 2000, Facile detection of mitochondrial DNA mutations in tumors and bodily fluids, Science, 287, 2017, 10.1126/science.287.5460.2017
Michel, 1998, Cytochrome c oxidase: structure and spectroscopy, Annu. Rev. Biophys. Biomol. Struct., 27, 329, 10.1146/annurev.biophys.27.1.329
Rentzsch, 1999, Mitochondrial copper metabolism in yeast: mutational analysis of Sco1p involved in the biogenesis of cytochrome c oxidase, Curr. Genet., 35, 103, 10.1007/s002940050438
Stock, 1999, Molecular architecture of the rotary motor in ATP synthase, Science, 286, 1700, 10.1126/science.286.5445.1700
Manfredi, 1999, Oligomycin induces a decrease in the cellular content of a pathogenic mutation in the human mitochondrial ATPase 6 gene, J. Biol. Chem., 274, 9386, 10.1074/jbc.274.14.9386
Rastogi, 1999, Structural changes linked to proton translocation by subunit c of the ATP synthase, Nature, 402, 263, 10.1038/46224
Garcia, 2000, Structure, functioning, and assembly of the ATP synthase in cells from patients with the T8993G mitochondrial DNA mutation. Comparison with the enzyme in Rho0 cells completely lacking mtDNA, J. Biol. Chem., 275, 11075, 10.1074/jbc.275.15.11075
Walker, 1998, Neurotrophin-4 is upregulated in ragged-red fibers associated with pathogenic mitochondrial DNA mutations, Ann. Neurol., 43, 536, 10.1002/ana.410430421
Petruzzella, 1994, Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt-3243, Hum. Mol. Genet., 3, 449, 10.1093/hmg/3.3.449
Rossignol, 2000, Tissue variation in the control of oxidative phosphorylation: implication for mitochondrial diseases, Biochem. J., 347, 45, 10.1042/bj3470045
Birch-Machin, 2000, Mitochondria and skin disease, Clin. Exp. Dermatol., 25, 141, 10.1046/j.1365-2230.2000.00605.x
Pessayre, 1999, Hepatotoxicity due to mitochondrial dysfunction, Cell Biol. Toxicol., 15, 367, 10.1023/A:1007649815992
Tanji, 2000, Kearns–Sayre syndrome: oncocytic transformation of choroid plexus epithelium, J. Neurol. Sci., 178, 29, 10.1016/S0022-510X(00)00354-3
Yaffe, 1999, The machinery of mitochondrial inheritance and behavior, Science, 283, 1493, 10.1126/science.283.5407.1493
Tanji, 1999, Kearns–Sayre syndrome: unusual pattern of expression of subunits of the respiratory chain in the cerebellar system, Ann. Neurol., 45, 377, 10.1002/1531-8249(199903)45:3<377::AID-ANA14>3.0.CO;2-M
Erickson-Viitanen, 1982, Compartmentation of mitochondrial creatine phosphokinase. I. Direct demonstration of compartmentation with the use of labeled precursors, J. Biol. Chem., 257, 14395, 10.1016/S0021-9258(19)45394-5
Aflalo, 1997, Localized firefly luciferase probes ATP at the surface of mitochondria, J. Bioenerg. Biomembr., 29, 549, 10.1023/A:1022478917573
Brini, 1999, A calcium signaling defect in the pathogenesis of a mitochondrial DNA inherited oxidative phosphorylation deficiency, Nat. Med., 5, 951, 10.1038/11396
Kennedy, 1999, Glucose generates sub-plasma membrane ATP microdomains in single islet b-cells. Potential role for strategically located mitochondria, J. Biol. Chem., 274, 13281, 10.1074/jbc.274.19.13281