메뉴 건너뛰기




Volumn 12, Issue 6, 2001, Pages 417-427

Defects of intergenomic communication: Autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA

Author keywords

Autosomal; Depletion; DNA; Mitochondria; Multiple deletions

Indexed keywords

ADENINE NUCLEOTIDE TRANSLOCASE; MITOCHONDRIAL DNA; MITOCHONDRIAL PROTEIN; THYMIDINE PHOSPHORYLASE;

EID: 0035782695     PISSN: 10849521     EISSN: None     Source Type: Journal    
DOI: 10.1006/scdb.2001.0279     Document Type: Article
Times cited : (95)

References (93)
  • 1
    • 0024601360 scopus 로고
    • An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region
    • Zeviani M, Servidei S, Gellera C, Bertini E, DiMauro S, DiDonato S (1989) An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature 339:309-311
    • (1989) Nature , vol.339 , pp. 309-311
    • Zeviani, M.1    Servidei, S.2    Gellera, C.3    Bertini, E.4    DiMauro, S.5    DiDonato, S.6
  • 3
    • 0019423856 scopus 로고
    • Sequence and organization of the human mitochondrial genome
    • Anderson S et al. (1981) Sequence and organization of the human mitochondrial genome. Nature 290:457-465
    • (1981) Nature , vol.290 , pp. 457-465
    • Anderson, S.1
  • 4
    • 0030920779 scopus 로고    scopus 로고
    • Mitochondrial DNA maintenance in vertebrates
    • Shadel G, Clayton D (1997) Mitochondrial DNA maintenance in vertebrates. Ann Rev Biochem 66:409-435
    • (1997) Ann Rev Biochem , vol.66 , pp. 409-435
    • Shadel, G.1    Clayton, D.2
  • 5
    • 0033060854 scopus 로고    scopus 로고
    • The mitochondrial genome: Structure, transcription and translation
    • Taanman J-W (1999) The mitochondrial genome: Structure, transcription and translation. Biochim Biophys Acta 1410:103-123
    • (1999) Biochim Biophys Acta , vol.1410 , pp. 103-123
    • Taanman, J.-W.1
  • 6
    • 0034712321 scopus 로고    scopus 로고
    • Vertebrate mitochondrial DNA-a circle of surprises
    • Clayton DA (2000) Vertebrate mitochondrial DNA-a circle of surprises. Exp Cell Res 255:4-9
    • (2000) Exp Cell Res , vol.255 , pp. 4-9
    • Clayton, D.A.1
  • 7
    • 0034603852 scopus 로고    scopus 로고
    • New features of mitochondrial DNA replication system in yeast and man
    • Lecrenier N, Foury F (2000) New features of mitochondrial DNA replication system in yeast and man. Gene 246:37-48
    • (2000) Gene , vol.246 , pp. 37-48
    • Lecrenier, N.1    Foury, F.2
  • 8
    • 0035941492 scopus 로고    scopus 로고
    • Animal mitochondrial biogenesis and function: A regulatory cross-talk between two genomes
    • Garesse R, Vallejo CG (2001) Animal mitochondrial biogenesis and function: A regulatory cross-talk between two genomes. Gene 263:1-16
    • (2001) Gene , vol.263 , pp. 1-16
    • Garesse, R.1    Vallejo, C.G.2
  • 9
    • 0016011886 scopus 로고
    • Replication of circular DNA in eukaryotic cells
    • Kasamatsu H, Vinograd J (1974) Replication of circular DNA in eukaryotic cells. Annu Rev Biochem 43:695-719
    • (1974) Annu Rev Biochem , vol.43 , pp. 695-719
    • Kasamatsu, H.1    Vinograd, J.2
  • 10
    • 0026720911 scopus 로고
    • Structure and function of the mitochondrial genome
    • Clayton DA (1992) Structure and function of the mitochondrial genome. J Inherit Metab Dis 15:439-447
    • (1992) J Inherit Metab Dis , vol.15 , pp. 439-447
    • Clayton, D.A.1
  • 11
    • 0034598918 scopus 로고    scopus 로고
    • Coupled leading and lagging-strand synthesis of mammalian mitochondrial DNA
    • Holt IJ, Lorimer HE, Jacobs JT (2000) Coupled leading and lagging-strand synthesis of mammalian mitochondrial DNA. Cell 100:515-524
    • (2000) Cell , vol.100 , pp. 515-524
    • Holt, I.J.1    Lorimer, H.E.2    Jacobs, J.T.3
  • 12
    • 0025829045 scopus 로고
    • Similarity of human mitochondrial transcription factor 1 to high mobility group proteins
    • Parisi MA, Clayton DA (1991) Similarity of human mitochondrial transcription factor 1 to high mobility group proteins. Science 252:965-969
    • (1991) Science , vol.252 , pp. 965-969
    • Parisi, M.A.1    Clayton, D.A.2
  • 13
    • 0032514892 scopus 로고    scopus 로고
    • Initiation of mitochondrial DNA replication by transcription and R-loop processing
    • Lee DY, Clayton DA (1998) Initiation of mitochondrial DNA replication by transcription and R-loop processing. J Biol Chem 273:30614-30621
    • (1998) J Biol Chem , vol.273 , pp. 30614-30621
    • Lee, D.Y.1    Clayton, D.A.2
  • 14
    • 0027284549 scopus 로고
    • Primers for mitochondrial DNA replication generated by endonuclease G
    • Coté J, Ruiz-Carrillo A (1993) Primers for mitochondrial DNA replication generated by endonuclease G. Science 261:765-769
    • (1993) Science , vol.261 , pp. 765-769
    • Coté, J.1    Ruiz-Carrillo, A.2
  • 15
    • 0034701029 scopus 로고    scopus 로고
    • Human mitochondrial DNA polymerase holoenzyme: Reconstitution and characterization
    • Johnson AA, Tsai Y-C, Graves SW, Johnson KA (2000) Human mitochondrial DNA polymerase holoenzyme: Reconstitution and characterization. Biochemistry 39:1702-1708
    • (2000) Biochemistry , vol.39 , pp. 1702-1708
    • Johnson, A.A.1    Tsai, Y.-C.2    Graves, S.W.3    Johnson, K.A.4
  • 16
    • 0027308839 scopus 로고
    • Cloning of human and rat cDNAs encoding the mitochondrial single-stranded-DAN-binding protein, SSB
    • Tiranti B, Rocchi M, DiDonato S, Zeviani M (1993) Cloning of human and rat cDNAs encoding the mitochondrial single-stranded-DAN-binding protein, SSB. Gene 126:219-225
    • (1993) Gene , vol.126 , pp. 219-225
    • Tiranti, B.1    Rocchi, M.2    DiDonato, S.3    Zeviani, M.4
  • 17
    • 0034938364 scopus 로고    scopus 로고
    • Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria
    • Spelbrink JN et al. (2001) Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat Genet 28:223-231
    • (2001) Nat Genet , vol.28 , pp. 223-231
    • Spelbrink, J.N.1
  • 18
    • 0034943967 scopus 로고    scopus 로고
    • Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
    • Van Goethem G, Dermaut B, Lofgren A, Martin JJ, Van Broeckhoven C (2001) Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet 28:211-212
    • (2001) Nat Genet , vol.28 , pp. 211-212
    • Van Goethem, G.1    Dermaut, B.2    Lofgren, A.3    Martin, J.J.4    Van Broeckhoven, C.5
  • 19
    • 0033613865 scopus 로고    scopus 로고
    • Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
    • Nishino I, Spinazzola A, Hirano M (1999) Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 283:689-692
    • (1999) Science , vol.283 , pp. 689-692
    • Nishino, I.1    Spinazzola, A.2    Hirano, M.3
  • 21
    • 0028301915 scopus 로고
    • Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Clinical, biochemical and genetic features of an autosomal recessive mitochondrial disorder
    • Hirano M et al. (1994) Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Clinical, biochemical and genetic features of an autosomal recessive mitochondrial disorder. Neurology 44:721-727
    • (1994) Neurology , vol.44 , pp. 721-727
    • Hirano, M.1
  • 22
    • 0031681413 scopus 로고    scopus 로고
    • Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome
    • Papadimitriou A et al. (1998) Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome. Neurology 51:1086-1092
    • (1998) Neurology , vol.51 , pp. 1086-1092
    • Papadimitriou, A.1
  • 23
    • 0034096975 scopus 로고    scopus 로고
    • MNGIE: An autosomal recessive disorder due to thymidine phosphorylase mutations
    • Nishino I et al. (2000) MNGIE: An autosomal recessive disorder due to thymidine phosphorylase mutations. Ann Neurol 47:792-800
    • (2000) Ann Neurol , vol.47 , pp. 792-800
    • Nishino, I.1
  • 24
    • 0032231702 scopus 로고    scopus 로고
    • Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome maps to chromosome 22q13.32-qter
    • Hirano M et al. (1998) Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome maps to chromosome 22q13.32-qter. Am J Hum Genet 63:526-533
    • (1998) Am J Hum Genet , vol.63 , pp. 526-533
    • Hirano, M.1
  • 26
    • 0026028226 scopus 로고
    • Depletion of muscle mitochondrial DNA in AIDS patients with zidovudine-induced myopathy
    • Arnaudo E, Dalakas M, Shanske S, Moraes CT, DiMauro S, Schon EA (1991) Depletion of muscle mitochondrial DNA in AIDS patients with zidovudine-induced myopathy. Lancet 337:508-510
    • (1991) Lancet , vol.337 , pp. 508-510
    • Arnaudo, E.1    Dalakas, M.2    Shanske, S.3    Moraes, C.T.4    DiMauro, S.5    Schon, E.A.6
  • 27
    • 0026681374 scopus 로고
    • Zidovudine induces molecular, biochemical, and ultrastructural changes in rat skeletal muscle mitochondria
    • Lewis W, Gonzalez B, Chomyn A, Papoian T (1992) Zidovudine induces molecular, biochemical, and ultrastructural changes in rat skeletal muscle mitochondria. J Clin Invest 89:1354-1360
    • (1992) J Clin Invest , vol.89 , pp. 1354-1360
    • Lewis, W.1    Gonzalez, B.2    Chomyn, A.3    Papoian, T.4
  • 28
    • 0028771094 scopus 로고
    • Deaths in US fialuridine trial
    • Brahams D (1994) Deaths in US fialuridine trial. Lancet 343:1494-1495
    • (1994) Lancet , vol.343 , pp. 1494-1495
    • Brahams, D.1
  • 29
    • 0028861575 scopus 로고
    • Cellular and molecular events leading to mitochondrial toxicity of 1-[2′-deoxy-2′fluoro-ÿ-D-arabinofuranosyl]-5-iodouracil in human liver cells
    • Cui L, Toon S, Shininazi RF, Sommadossi J-P (1995) Cellular and molecular events leading to mitochondrial toxicity of 1-[2′-deoxy-2′fluoro-ÿ-D-arabinofuranosyl]-5-iodouracil in human liver cells. J Clin Invest 95:555-563
    • (1995) J Clin Invest , vol.95 , pp. 555-563
    • Cui, L.1    Toon, S.2    Shininazi, R.F.3    Sommadossi, J.-P.4
  • 30
    • 0023883150 scopus 로고    scopus 로고
    • Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
    • Holt IJ, Harding AE, Morgan Hughes JA (1998) Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 331:717-719
    • (1998) Nature , vol.331 , pp. 717-719
    • Holt, I.J.1    Harding, A.E.2    Morgan Hughes, J.A.3
  • 31
    • 0029996721 scopus 로고    scopus 로고
    • Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy
    • Bohlega S, Tanji K, Santorelli F, Hirano M, al-Jishi A, DiMauro S (1996) Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy. Neurology 46:1329-1334
    • (1996) Neurology , vol.46 , pp. 1329-1334
    • Bohlega, S.1    Tanji, K.2    Santorelli, F.3    Hirano, M.4    Al-Jishi, A.5    DiMauro, S.6
  • 32
    • 0029886656 scopus 로고    scopus 로고
    • Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status
    • van Domburg PH, Gabreels-Festen AA, Gabreels FJ, de Coo R, Ruitenbeek W, Wesseling P, ter Laak H (1996) Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status. Brain 119:997-1010
    • (1996) Brain , vol.119 , pp. 997-1010
    • Van Domburg, P.H.1    Gabreels-Festen, A.A.2    Gabreels, F.J.3    De Coo, R.4    Ruitenbeek, W.5    Wesseling, P.6    Ter Laak, H.7
  • 35
    • 0026637067 scopus 로고
    • Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia
    • Suomalainen A, Majander A, Haltia M, Somer H, Lonnqvist J, Savontaus ML, Peltonen L (1992) Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia. J Clin Invest 90:61-66
    • (1992) J Clin Invest , vol.90 , pp. 61-66
    • Suomalainen, A.1    Majander, A.2    Haltia, M.3    Somer, H.4    Lonnqvist, J.5    Savontaus, M.L.6    Peltonen, L.7
  • 36
    • 0030898772 scopus 로고    scopus 로고
    • Autosomal dominant progressive external ophthalmoplegia with mitochondrial deletions of mtDNA: Clinical, biochemical, and molecular genetic features of the 10q-linked disease
    • Suomalainen A et al. (1997) Autosomal dominant progressive external ophthalmoplegia with mitochondrial deletions of mtDNA: Clinical, biochemical, and molecular genetic features of the 10q-linked disease. Neurology 48:1244-1253
    • (1997) Neurology , vol.48 , pp. 1244-1253
    • Suomalainen, A.1
  • 37
    • 0029978895 scopus 로고    scopus 로고
    • Muscle-nerve involvement in autosomal dominant progressive external ophthalmoplegia with hypogonadism
    • Melberg A, Lundberg PO, Henriksson KG, Olsson Y, Stålberg E (1996) Muscle-nerve involvement in autosomal dominant progressive external ophthalmoplegia with hypogonadism. Muscle Nerve 19:751-757
    • (1996) Muscle Nerve , vol.19 , pp. 751-757
    • Melberg, A.1    Lundberg, P.O.2    Henriksson, K.G.3    Olsson, Y.4    Stålberg, E.5
  • 38
    • 0031929664 scopus 로고    scopus 로고
    • Rhabdomyolysis in autosomal dominant progressive external ophthalmoplegia
    • Melberg A, Holme E, Oldfors A, Lundberg PO (1998) Rhabdomyolysis in autosomal dominant progressive external ophthalmoplegia. Neurology 50:299-300
    • (1998) Neurology , vol.50 , pp. 299-300
    • Melberg, A.1    Holme, E.2    Oldfors, A.3    Lundberg, P.O.4
  • 39
    • 0024596946 scopus 로고
    • A direct repeat is a hotspot for large scale deletions of human mitochondrial DNA
    • Schon E, Rizzuto R, Moraes C et al. (1989) A direct repeat is a hotspot for large scale deletions of human mitochondrial DNA. Science 244:346-349
    • (1989) Science , vol.244 , pp. 346-349
    • Schon, E.1    Rizzuto, R.2    Moraes, C.3
  • 41
    • 0029834809 scopus 로고    scopus 로고
    • Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia
    • Moslemi A-R, Melberg A, Holme E, Oldfors A (1996) Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia. Ann Neurol 40:707-713
    • (1996) Ann Neurol , vol.40 , pp. 707-713
    • Moslemi, A.-R.1    Melberg, A.2    Holme, E.3    Oldfors, A.4
  • 43
    • 0033365348 scopus 로고    scopus 로고
    • A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia
    • Kaukonen J, Zeviani M, Comi GP, Piscaglia M-G, Peltonen L, Suomalainen A (1999) A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia. Am J Hum Genet 65:256-261
    • (1999) Am J Hum Genet , vol.65 , pp. 256-261
    • Kaukonen, J.1    Zeviani, M.2    Comi, G.P.3    Piscaglia, M.-G.4    Peltonen, L.5    Suomalainen, A.6
  • 44
  • 45
    • 0028132589 scopus 로고
    • Ribonucleotide reductase: Evidence for specific association with HeLa cell mitochondria
    • Young P, Leeds JM, Slabaugh MB, Mathews CK (1994) Ribonucleotide reductase: Evidence for specific association with HeLa cell mitochondria. Biochem Biophys Res Commun 203:46-52
    • (1994) Biochem Biophys Res Commun , vol.203 , pp. 46-52
    • Young, P.1    Leeds, J.M.2    Slabaugh, M.B.3    Mathews, C.K.4
  • 46
    • 10244263498 scopus 로고    scopus 로고
    • Biochemical analysis of mutant T7 primase/helicase proteins defective in DNA binding, nucleotide hydrolysis, and the coupling of hydrolysis with DNA unwinding
    • Washington MT, Rosenberg AH, Griffin K, Studier FW, Patel SS (1996) Biochemical analysis of mutant T7 primase/helicase proteins defective in DNA binding, nucleotide hydrolysis, and the coupling of hydrolysis with DNA unwinding. J Biol Chem 271:26825-26834
    • (1996) J Biol Chem , vol.271 , pp. 26825-26834
    • Washington, M.T.1    Rosenberg, A.H.2    Griffin, K.3    Studier, F.W.4    Patel, S.S.5
  • 47
    • 0024317560 scopus 로고
    • Spontaneus Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mtDNA deletion: A slip-replication model and metabolic therapy
    • Shoffner JM, Lott MT, Voljavec AS, Soueidan SA, Costigan DA, Wallace DC (1989) Spontaneus Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mtDNA deletion: A slip-replication model and metabolic therapy. Proc Natl Acad Sci 86:7952-7956
    • (1989) Proc Natl Acad Sci , vol.86 , pp. 7952-7956
    • Shoffner, J.M.1    Lott, M.T.2    Voljavec, A.S.3    Soueidan, S.A.4    Costigan, D.A.5    Wallace, D.C.6
  • 49
    • 0026715879 scopus 로고
    • Nucleus-driven mutations of human mitochondrial DNA
    • Zeviani M (1992) Nucleus-driven mutations of human mitochondrial DNA. J Inherit Metab Dis 15:456-471
    • (1992) J Inherit Metab Dis , vol.15 , pp. 456-471
    • Zeviani, M.1
  • 50
    • 0027166063 scopus 로고
    • In vivo and in vitro evidence for slipped mispairing in mammalian mitochondria
    • Madsen CS, Ghivizzani SC, Hauswirth WW (1993) In vivo and in vitro evidence for slipped mispairing in mammalian mitochondria. Proc Natl Acad Sci USA 90:7671-7675
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 7671-7675
    • Madsen, C.S.1    Ghivizzani, S.C.2    Hauswirth, W.W.3
  • 51
    • 0018933975 scopus 로고
    • The structure and evolution of the human beta-globin gene family
    • Efstratiadis A et al. (1980) The structure and evolution of the human beta-globin gene family. Cell 21:653-668
    • (1980) Cell , vol.21 , pp. 653-668
    • Efstratiadis, A.1
  • 52
    • 0019978703 scopus 로고
    • Replication of animal mitochondrial DNA
    • Clayton DA (1982) Replication of animal mitochondrial DNA. Cell 28:693-705
    • (1982) Cell , vol.28 , pp. 693-705
    • Clayton, D.A.1
  • 55
    • 0026541124 scopus 로고
    • Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA
    • Tritschler HJ et al. (1992) Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA. Neurology 42:209-217
    • (1992) Neurology , vol.42 , pp. 209-217
    • Tritschler, H.J.1
  • 56
    • 0026704872 scopus 로고
    • Fatal cytochrome c oxidase-deficient myopathy of infancy associated with mtDNA depletion. Differential involvement of skeletal muscle and cultured fibroblasts
    • Telerman-Toppet N, Biarent D, Bouton JM, DeMeirleir L, Elmer C, Noel S, Vamos E, DiMauro S (1992) Fatal cytochrome c oxidase-deficient myopathy of infancy associated with mtDNA depletion. Differential involvement of skeletal muscle and cultured fibroblasts. J Inherit Metab Dis 15:323-326
    • (1992) J Inherit Metab Dis , vol.15 , pp. 323-326
    • Telerman-Toppet, N.1    Biarent, D.2    Bouton, J.M.3    DeMeirleir, L.4    Elmer, C.5    Noel, S.6    Vamos, E.7    DiMauro, S.8
  • 57
    • 0026554441 scopus 로고
    • Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement
    • Figarella-Branger D, Pellissier JF, Scheiner C, Wernert F, Desnuelle C (1992) Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement. J Neurol Sci 108:105-113
    • (1992) J Neurol Sci , vol.108 , pp. 105-113
    • Figarella-Branger, D.1    Pellissier, J.F.2    Scheiner, C.3    Wernert, F.4    Desnuelle, C.5
  • 58
    • 0026480006 scopus 로고
    • Fatal infantile liver failure associated with mitochondrial DNA depletion
    • Mazziotta MR et al. (1992) Fatal infantile liver failure associated with mitochondrial DNA depletion. J Pediat 121:896-901
    • (1992) J Pediat , vol.121 , pp. 896-901
    • Mazziotta, M.R.1
  • 59
    • 0028223609 scopus 로고
    • Low levels of mitochondrial transcription factor A in mitochondrial DNA depletion
    • Larsson NG, Oldfors A, Holme E, Clayton DA (1994) Low levels of mitochondrial transcription factor A in mitochondrial DNA depletion. Biochem Biophys Res Comm 200:1374-1381
    • (1994) Biochem Biophys Res Comm , vol.200 , pp. 1374-1381
    • Larsson, N.G.1    Oldfors, A.2    Holme, E.3    Clayton, D.A.4
  • 60
    • 0029086201 scopus 로고
    • Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: A morphological, biochemical and molecular-genetic study
    • Mariotti C, Uziel G, Carrara F, Mora M, Prelle A, Tiranti V, DiDonato S, Zeviani M (1995) Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: A morphological, biochemical and molecular-genetic study. J Neurol 242:547-556
    • (1995) J Neurol , vol.242 , pp. 547-556
    • Mariotti, C.1    Uziel, G.2    Carrara, F.3    Mora, M.4    Prelle, A.5    Tiranti, V.6    DiDonato, S.7    Zeviani, M.8
  • 61
    • 0028930787 scopus 로고
    • Variation in mitochondrial DNA levels in muscle from normal controls. Is depletion of mtDNA in patients with mitochondrial myopathy a distinct clinical syndrome?
    • Poulton J, Sewry C, Potter CG, Bougeron T, Chretien D, Wijburg FA, Morten KJ, Brown G (1995) Variation in mitochondrial DNA levels in muscle from normal controls. Is depletion of mtDNA in patients with mitochondrial myopathy a distinct clinical syndrome? J Inherit Metab Dis 18:4-20
    • (1995) J Inherit Metab Dis , vol.18 , pp. 4-20
    • Poulton, J.1    Sewry, C.2    Potter, C.G.3    Bougeron, T.4    Chretien, D.5    Wijburg, F.A.6    Morten, K.J.7    Brown, G.8
  • 63
    • 0029934637 scopus 로고    scopus 로고
    • Mitochondrial DNA depletion: Prevalence in a pediatric population referred for neurologic evaluation
    • Macmillan CJ, Shoubridge EA (1996) Mitochondrial DNA depletion: Prevalence in a pediatric population referred for neurologic evaluation. Pediatr Neurol 14:203-210
    • (1996) Pediatr Neurol , vol.14 , pp. 203-210
    • Macmillan, C.J.1    Shoubridge, E.A.2
  • 65
    • 0031747955 scopus 로고    scopus 로고
    • Clinical manifestations of mitochondrial depletion
    • Vu TH et al. (1998a) Clinical manifestations of mitochondrial depletion. Neurology 50:1783-1790
    • (1998) Neurology , vol.50 , pp. 1783-1790
    • Vu, T.H.1
  • 66
    • 0031665069 scopus 로고    scopus 로고
    • Mitochondrial DNA depletion in a patient with long survival
    • Vu TH, Tanji K, Valsamis H, DiMauro S, Bonilla E (1998b) Mitochondrial DNA depletion in a patient with long survival. Neurology 51:1190-1193
    • (1998) Neurology , vol.51 , pp. 1190-1193
    • Vu, T.H.1    Tanji, K.2    Valsamis, H.3    DiMauro, S.4    Bonilla, E.5
  • 67
    • 0032477340 scopus 로고    scopus 로고
    • Clinical heterogeneity associated with mitochondrial DNA depletion in muscle
    • Campos Y et al. (1998) Clinical heterogeneity associated with mitochondrial DNA depletion in muscle. Neuromuscul Disord 8:568-573
    • (1998) Neuromuscul Disord , vol.8 , pp. 568-573
    • Campos, Y.1
  • 72
    • 0027496432 scopus 로고
    • Nuclear complementation restores mtDNA levels in cultured cells from patients with mtDNA depletion
    • Bodnar AG, Cooper JM, Holt IJ, Leonard JV, Schapira AHV (1993) Nuclear complementation restores mtDNA levels in cultured cells from patients with mtDNA depletion. Am J Hum Genet 53:663-669
    • (1993) Am J Hum Genet , vol.53 , pp. 663-669
    • Bodnar, A.G.1    Cooper, J.M.2    Holt, I.J.3    Leonard, J.V.4    Schapira, A.H.V.5
  • 73
    • 0028029271 scopus 로고
    • Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion
    • Poulton J et al. (1994) Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion. Hum Mol Genet 3:1762-1769
    • (1994) Hum Mol Genet , vol.3 , pp. 1762-1769
    • Poulton, J.1
  • 74
    • 0029982347 scopus 로고    scopus 로고
    • Mitochondrial DNA polymerase gamma is expressed and translated in the absence of mitochondrial DNA maintenance and replication
    • Davis AF, Ropp PA, Clayton DA, Copeland WC (1996) Mitochondrial DNA polymerase gamma is expressed and translated in the absence of mitochondrial DNA maintenance and replication. Nucleic Acids Res 24:2753-2759
    • (1996) Nucleic Acids Res , vol.24 , pp. 2753-2759
    • Davis, A.F.1    Ropp, P.A.2    Clayton, D.A.3    Copeland, W.C.4
  • 76
    • 0032924872 scopus 로고    scopus 로고
    • Dilated cardiomyopathy and atri-oventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression
    • Wang J et al. (1999) Dilated cardiomyopathy and atri-oventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression. Nat Genet 21:133-137
    • (1999) Nat Genet , vol.21 , pp. 133-137
    • Wang, J.1
  • 77
    • 0033762782 scopus 로고    scopus 로고
    • Impaired insulin secretion and beta-cell loss in tissue-specific knockout mice with mitochondrial diabetes
    • Silva JP, Kohler M, Graff C, Oldfors A, Magnuson MA, Berggren PO, Larsson NG (2000) Impaired insulin secretion and beta-cell loss in tissue-specific knockout mice with mitochondrial diabetes. Nat Genet 26:336-340
    • (2000) Nat Genet , vol.26 , pp. 336-340
    • Silva, J.P.1    Kohler, M.2    Graff, C.3    Oldfors, A.4    Magnuson, M.A.5    Berggren, P.O.6    Larsson, N.G.7
  • 79
    • 19144363053 scopus 로고    scopus 로고
    • An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p
    • Kaukonen J et al. (1996) An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p. Am J Hum Genet 58:763-769
    • (1996) Am J Hum Genet , vol.58 , pp. 763-769
    • Kaukonen, J.1
  • 80
    • 0025765287 scopus 로고
    • Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy
    • Cormier V, Rotig A, Tardieu M, Colonna M, Saudubray J-M, Munnich A (1991) Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy. Am J Hum Genet 48:643-648
    • (1991) Am J Hum Genet , vol.48 , pp. 643-648
    • Cormier, V.1    Rotig, A.2    Tardieu, M.3    Colonna, M.4    Saudubray, J.-M.5    Munnich, A.6
  • 81
    • 0026463567 scopus 로고
    • Inherited idiopathic dilated cardiomyopathy with multiple deletions of mitochondrial DNA
    • Suomalainen A, Paetau A, Leinonen H, Majander A, Peltonen L, Somer H (1992b) Inherited idiopathic dilated cardiomyopathy with multiple deletions of mitochondrial DNA. Lancet 340:1319-1320
    • (1992) Lancet , vol.340 , pp. 1319-1320
    • Suomalainen, A.1    Paetau, A.2    Leinonen, H.3    Majander, A.4    Peltonen, L.5    Somer, H.6
  • 82
    • 0025322251 scopus 로고
    • Marked decrease of mitochondrial DNA with multiple deletions in a patient with familial mitochondrial myopathy
    • Otsuka M, Niijima K, Mizuno Y, Yoshida M, Kagawa Y, Ohta S (1990) Marked decrease of mitochondrial DNA with multiple deletions in a patient with familial mitochondrial myopathy. Biochem Biophys Res Commun 167:680-685
    • (1990) Biochem Biophys Res Commun , vol.167 , pp. 680-685
    • Otsuka, M.1    Niijima, K.2    Mizuno, Y.3    Yoshida, M.4    Kagawa, Y.5    Ohta, S.6
  • 83
    • 0028109484 scopus 로고
    • Multiple deletions of mtDNA in two brothers with sideroblastic anemia and mitochondrial myopathy and in their asymptomatic mother
    • Casademont J et al. (1994) Multiple deletions of mtDNA in two brothers with sideroblastic anemia and mitochondrial myopathy and in their asymptomatic mother. Hum Mol Genet 3:1945-1949
    • (1994) Hum Mol Genet , vol.3 , pp. 1945-1949
    • Casademont, J.1
  • 85
    • 13344260008 scopus 로고    scopus 로고
    • A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome
    • Barrientos A et al. (1996) A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome. J Clin Invest 97:1570-1576
    • (1996) J Clin Invest , vol.97 , pp. 1570-1576
    • Barrientos, A.1
  • 86
    • 0031761895 scopus 로고    scopus 로고
    • Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein
    • Strom TM, Hörtnagel K, Hofmann S, Gekeler F, Scharfe C, Rabl W, Gerbitz KD, Meitinger T (1998) Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. Hum Mol Genet 7:2021-2028
    • (1998) Hum Mol Genet , vol.7 , pp. 2021-2028
    • Strom, T.M.1    Hörtnagel, K.2    Hofmann, S.3    Gekeler, F.4    Scharfe, C.5    Rabl, W.6    Gerbitz, K.D.7    Meitinger, T.8
  • 88
    • 0028849791 scopus 로고
    • Multiple mitochondrial DNA deletions in a patient with mitochondrial myopathy and cardiomyopathy but no ophthalmoplegia
    • Takei Y-I, Ikeda S-I, Yanagisawa N, Takahashi W, Sekiguchi M, Hayashi T (1995) Multiple mitochondrial DNA deletions in a patient with mitochondrial myopathy and cardiomyopathy but no ophthalmoplegia. Muscle Nerve 18:1321-1325
    • (1995) Muscle Nerve , vol.18 , pp. 1321-1325
    • Takei, Y.-I.1    Ikeda, S.-I.2    Yanagisawa, N.3    Takahashi, W.4    Sekiguchi, M.5    Hayashi, T.6
  • 91
    • 0030297454 scopus 로고    scopus 로고
    • Mitochondrial encephalopathy with multiple mitochondrial DNA deletions: A report of two families and two sporadic cases with unusual clinical and neuropathological features
    • Chalmers RM, Brockington M, Howard RS, Lecky BRF, Morgan-Hughes JA, Harding AE (1996) Mitochondrial encephalopathy with multiple mitochondrial DNA deletions: A report of two families and two sporadic cases with unusual clinical and neuropathological features. J Neurol Sci 143:41-45
    • (1996) J Neurol Sci , vol.143 , pp. 41-45
    • Chalmers, R.M.1    Brockington, M.2    Howard, R.S.3    Lecky, B.R.F.4    Morgan-Hughes, J.A.5    Harding, A.E.6
  • 92
    • 0027478804 scopus 로고
    • Mitochondrial DNA deletions in inclusion body myositis
    • Oldfors A, Larsson NG, Lindberg C, Holme E (1993) Mitochondrial DNA deletions in inclusion body myositis. Brain 116:325-336
    • (1993) Brain , vol.116 , pp. 325-336
    • Oldfors, A.1    Larsson, N.G.2    Lindberg, C.3    Holme, E.4
  • 93
    • 8944243541 scopus 로고    scopus 로고
    • Multiple mitochondrial DNA deletions in sporadic inclusion body myositis
    • Santorelli F et al. (1996) Multiple mitochondrial DNA deletions in sporadic inclusion body myositis. Ann Neurol 39:789-795
    • (1996) Ann Neurol , vol.39 , pp. 789-795
    • Santorelli, F.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.