Mitochondrial encephalomyopathies and cytochrome c oxidase deficiency: muscle culture study
Tóm tắt
Từ khóa
Tài liệu tham khảo
Askanas V, Engel WK, Britton DE, Adornato BT, Eiben RM (1978) Reincarnation in cultured muscle of mitochondrial abnormalities. Two patients with epilepsy and lactic acidosis. Arch Neurol 35:801?809
Bresolin N, Zeviani M, Bonilla E, Miller RH, Leech RW, Shanske S, Nakagawa M, DiMauro S (1985) Fatal infantile cytochrome c oxidase deficiency: decrease of immunologically detectable enzyme in muscle. Neurology 35:802?812
Capaldi RA, Halphen DG, Zhang YZ, Yanamura W (1988) Complexity and tissue specificity of the mitochondrial respiratory chain. J Bioenerg Biomembr 20:291?311
Darley-Usmar VM, Watanabe M, Uchiyama Y, Kondo I, Kennaway NG, Gronke L, Hamaguchi H (1986) Mitochondrial myopathy: tissue specific expression of a defect in ubiquinol cytochrome c redutase. Clin Chim Acta 158:253?261
DiMauro S, Bonilla E, Zeviani M, Nakagawa M, DeVivo DC (1985) Mitochondrial myopathies. Ann Neurol 17:521?538
DiMauro S, Zeviani M, Servidei S, Bonilla E, Miranda AF, Prelle A, Schon EA (1986) Cytochrome c oxidase deficiency. Clinical and biochemical heterogeneity. Ann NY Acad Sci 488:19?32
Goto Y, Koga Y, Horai S, Nonaka I (1990) Chronic progressive external ophthalmoplegia; a correlative study of mitochondria DNA deletions and their phenotypic expression in muscle biopsies. J Neurol Sci 100:63?69
Goto Y, Nonaka I, Horai S (1990) A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 348:651?653
Hayashi JI, Tagashira Y, Yoshida MC, Ajiro K, Sekiguchi T (1983) Two distinct types of mitochondrial DNA segregation in mouse-rat hybrid cells. Exp Cell Res 147:51?61
Koga Y, Nonaka I, Nakao M, Yoshino M, Tanaka M, Ozawa T, Nakase H, DiMauro S (1990) Progressive cytochrome c oxidase deficiency in a case of Leight's encephalomyopathy. J Neurol Sci 95:63?76
Kroon AM, van der Bogert C (1987) Biogenesis of mitochondria and genetics of mitochondrial defects. J Inherited Matab Dis 10 [Suppl 1]:54?61
Matsuoka T, Goto Y, Yoneda M, Nonaka I (1991) Muscle histopathology in myoclonus epilepsy with ragged-red fibers (MERRF). J Neurol Sci (in press)
Miranda AF, Ishii S, DiMauro S, Shay JW (1989) Cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence for a nuclear DNA-encoded mutation. Neurology 39:697?702
Moraes CT, Schon EA, DiMauro S, Miranda AF (1989) Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-Sayre syndrome. Biochem Biophys Res Commun 160:765?771
Morgan-Hughes JA (1985) The mitochondrial myopathies. In: Engel AG, Banker BQ (eds) Myology, vol. 2. McGraw-Hill, New York, pp 1709?1743
Nonaka I, Koga Y, Okino E, Kikuchi A, Fujisawa K, Miyabayashi S (1988) Defects in muscle fiber growth in fatal infantile cytochrome c oxidase deficiency. Brain Dev 10:223?230
Nonaka I, Koga Y, Shikura K, Kobayashi M, Sugiyama N, Okino E, Nihei K, Tojo M, Segawa M (1988) Muscle pathology in cytochrome c oxidase deficiency. Acta Neuropathol 77:152?160
Nonaka I, Koga Y, Ohtaki E, Yamamoto M (1989) Tissue specificity in cytochrome c oxidase deficient myopathy. J Neurol Sci 92:193?203
Novikoff AB, Goldfischer S (1969) Visualization of peroxisomes (microbodies) and mitochondria with diaminobenzidine. J Histochem Cytochem 17:675?680
Ohtsuki I, Manzi RM, Palade GE, Jamieson JD (1978) Entry of macromolecular tracers into cells fixed with low concentrations of aldehydes. J Microsc Biol Cell 31:119?126
Olivo PD, Van der Walle MJ, Laipis PJ, Hauswirth WW (1983) Nucleotide sequence evidence for rapid genotypic shifts in the bovine mitochondrial DNA D-loop. Nature 306:400?402
Orii Y, Okunuki K (1965) Studies on cytochroma a. Cytochrome oxidase activity of the Okinuki preparation and its activation by heat, alkali and detergent treatments. J Biochem 58:561?568
Pavlath GK, Rich K, Webster SG, Blau HM (1989) Localization of muscle gene products in nuclear domains. Nature 337:570?573
Ralston E, Hall ZW (1989) Transfer of a protein encoded by a single nucleus to nearby nuclei in multinucleated myotubes. Science 244:1066?1069
Rosing HS, Hopkins LC, Wallace DC, Epstein CM, Weidenheim K (1985) Maternally inherited mitochondrial myopathy and myoclonic epilepsy. Ann Neurol 17:228?237
Seligman AM, Karnovsky MJ, Wasserkrug HL, Hanker JS (1968) Nondroplet ultrastructural demonstration of cytochrome oxidase activity with a polymerizing osmiophilic reagent, diaminobenzidine (DAB). J Cell Biol 38:1?14
Shimoizumi H, Momoi MY, Ohta S, Kagawa Y, Momoi T, Yanagisawa M (1989) Cytochrome c oxidase-deficient myogenic cell lines in mitochondrial myopathy. Ann Neurol 25:615?621
Shoffner JM, Lott MT, Lezza AMS, Seibel P, Ballinger SW, Wallace DC (1990) Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation. Cell 61:931?937
Takamiya S, Yanamura W, Capaldi RA, Kennaway NG, Bart R, Sengers RCA, Trijbels JMF, Ruitenbeek W (1986) Mitochondrial myopathies involving the respiratory chain: a biochemical analysis. Ann NY Acad Sci 488:33?43
Wallace DC, Bunn CL, Eisenstadt JM (1977) Mitotic segregation of cytoplasmic determinants for chloramphenicol resistance in mammalian cells. II. Fusions with human lines. Somat Cell Genet 3:93?119
Yamamoto M, Nonaka I (1988) Skeletal muscle pathology in chronic progressive external ophthalmoplegia with ragged-red fibers. Acta Neuropathol 76:558?563