메뉴 건너뛰기




Volumn , Issue , 2009, Pages

A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy

Author keywords

[No Author keywords available]

Indexed keywords


EID: 84863192048     PISSN: None     EISSN: 1757790X     Source Type: Journal    
DOI: 10.1136/bcr.07.2008.0504     Document Type: Article
Times cited : (9)

References (30)
  • 4
    • 0031008228 scopus 로고    scopus 로고
    • The ATP synthase - A splendid molecular machine
    • DOI 10.1146/annurev.biochem.66.1.717
    • Boyer PD. The ATP synthase-a splendid molecular machine. Annu Rev Biochem 1997; 66: 717-49. [CrossRef] [Medline] [Web of Science] (Pubitemid 27274672)
    • (1997) Annual Review of Biochemistry , vol.66 , pp. 717-749
    • Boyer, P.D.1
  • 5
    • 0030934380 scopus 로고    scopus 로고
    • 1-ATPase
    • [CrossRef] [Medline] [Web of Science]
    • 1-ATPase. Nature 1997; 386: 299-302. [CrossRef] [Medline] [Web of Science]
    • (1997) Nature , vol.386 , pp. 299-302
    • Noji, H.1    Yasuda, R.2    Yoshida, M.3
  • 7
    • 0019423856 scopus 로고
    • Sequence and organization of the human mitochondrial genome
    • DOI 10.1038/290457a0
    • Anderson S, Bankier AT, Barrell BG, et al. Sequence and organisation of the human mitochondrial genome. Nature 1981; 290: 457-65. [CrossRef] [Medline] [Web of Science] (Pubitemid 11159074)
    • (1981) Nature , vol.290 , Issue.5806 , pp. 457-465
    • Anderson, S.1    Bankier, A.T.2    Barrell, B.G.3
  • 8
    • 33645562421 scopus 로고    scopus 로고
    • Clinical and biochemical characteristics in patients with a high mutant load of themitochondrial T8993G/C mutations
    • Medline
    • Morava E, Rodenburg RJ, Hol F, et al. Clinical and biochemical characteristics in patients with a high mutant load of themitochondrial T8993G/C mutations. Am J Med Genet A 2006; 140: 863-8. [Medline]
    • (2006) Am J Med Genet A , vol.140 , pp. 863-868
    • Morava, E.1    Rodenburg, R.J.2    Hol, F.3
  • 11
    • 0029876987 scopus 로고    scopus 로고
    • 0 cells
    • DOI 10.1016/S0076-6879(96)64030-0
    • King MP, Attadi G. Mitochondria-mediated transformation of human rho(0) cells. Methods Enzymol 1996; 264: 313-34. [CrossRef] [Medline] (Pubitemid 26089320)
    • (1996) Methods in Enzymology , vol.264 , pp. 313-334
    • King, M.P.1    Attardi, G.2
  • 13
    • 78651001645 scopus 로고
    • A microspectrophotometric method for the determination of cytochrome oxidase
    • FREE Full text
    • Cooperstein SJ, Lazarow A. A microspectrophotometric method for the determination of cytochrome oxidase. J Biol Chem 1951; 189: 665-70. [FREE Full text]
    • (1951) J Biol Chem , vol.189 , pp. 665-670
    • Cooperstein, S.J.1    Lazarow, A.2
  • 14
    • 77957010982 scopus 로고
    • Citrate synthase
    • CrossRef
    • Srere PA. Citrate synthase. Methods Enzymol 1969; 13: 3-11. [CrossRef]
    • (1969) Methods Enzymol , vol.13 , pp. 3-11
    • Srere, P.A.1
  • 16
    • 0037223749 scopus 로고    scopus 로고
    • Some practical aspects of providing a diagnostic service for respiratory chain defects
    • DOI 10.1258/000456303321016114
    • Janssen AJ, Smeitink JA, van den Heuvel LP. Some practical aspects of providing a diagnostic service for respiratory chain defects. Ann Clin Biochem 2003; 40: 3-8. [Abstract/FREE Full text] (Pubitemid 36051404)
    • (2003) Annals of Clinical Biochemistry , vol.40 , Issue.1 , pp. 3-8
    • Janssen, A.J.M.1    Smeitink, J.A.M.2    Van Den, H.L.P.3
  • 17
    • 14044277478 scopus 로고    scopus 로고
    • Leu(UUR) mutation in a patient with steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis
    • Abstract/FREE Full text
    • Leu(UUR) mutation in a patient with steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis. Nephrol Dial Transplant 2005; 20: 336-41. [Abstract/FREE Full text]
    • (2005) Nephrol Dial Transplant , vol.20 , pp. 336-341
    • Lowik, M.M.1    Hol, F.A.2    Steenbergen, E.J.3
  • 18
    • 0026409298 scopus 로고
    • Blue native electrophoresis for isolation of membrane protein complexes in enzymatically active form
    • [CrossRef] [Medline] [Web of Science]
    • Schägger H, von Jagow G. Blue native electrophoresis for isolation of membrane protein complexes in enzymatically active form. Anal Biochem 1991; 199: 223-31. [CrossRef] [Medline] [Web of Science]
    • (1991) Anal Biochem , vol.199 , pp. 223-231
    • Schägger, H.1    Von Jagow, G.2
  • 19
    • 0036024975 scopus 로고    scopus 로고
    • Blue Native electrophoresis to study mitochondrial and other protein complexes
    • DOI 10.1016/S1046-2023(02)00038-5, PII S1046202302000385
    • Nijtmans LG, Henderson NS, Holt IJ. Blue native electrophoresis to study mitochondrial and other protein complexes. Methods 2002; 26: 327-34. [CrossRef] [Medline] [Web of Science] (Pubitemid 34971572)
    • (2002) Methods , vol.26 , Issue.4 , pp. 327-334
    • Nijtmans, L.G.J.1    Henderson, N.S.2    Holt, I.J.3
  • 20
    • 0022186670 scopus 로고
    • Measurement of protein using bicinchoninic acid
    • DOI 10.1016/0003-2697(85)90442-7
    • Smith PK, Krohn RI, Hermanson GT, et al. Measurement of protein using bicinchoninic acid. Anal Biochem 1985; 150: 76-85. [CrossRef] [Medline] [Web of Science] (Pubitemid 16258399)
    • (1985) Analytical Biochemistry , vol.150 , Issue.1 , pp. 76-85
    • Smith, P.K.1    Krohn, R.I.2    Hermanson, G.T.3
  • 21
    • 0027971395 scopus 로고
    • Rescue of yeast defective in mitochondrial ATP synthase subunit 8 by a heterologous gene from Aspergillus nidulans
    • DOI 10.1006/bbrc.1994.2365
    • Straffon AF, Nagley P, Devenish RJ. Rescue of yeast defective in mitochondrial ATP synthase subunit 8 by a heterologous gene from Aspergillus nidulans. Biochem Biophys Res Commun 1994; 203: 1567-73. [CrossRef] [Medline] [Web of Science] (Pubitemid 24321543)
    • (1994) Biochemical and Biophysical Research Communications , vol.203 , Issue.3 , pp. 1567-1573
    • Straffon, A.F.L.1    Nagley, P.2    Devenish, R.J.3
  • 22
    • 0035794142 scopus 로고    scopus 로고
    • Impaired ATP synthase assembly associated with a mutation in the human ATP synthase subunit 6 gene
    • Abstract/FREE Full text
    • Nijtmans LG, Henderson NS, Attardi G, et al. Impaired ATP synthase assembly associated with a mutation in the human ATP synthase subunit 6 gene. J Biol Chem 2001; 276: 6755-62. [Abstract/FREE Full text]
    • (2001) J Biol Chem , vol.276 , pp. 6755-6762
    • Nijtmans, L.G.1    Henderson, N.S.2    Attardi, G.3
  • 23
    • 34147201740 scopus 로고    scopus 로고
    • Genetics of hypertrophic cardiomyopathy: One, two, or more diseases?
    • [Medline] [Web of Science]
    • Bos JM, Ommen SR, Ackerman MJ. Genetics of hypertrophic cardiomyopathy: one, two, or more diseases? Curr Opin Cardiol 2007; 22: 193-9. [Medline] [Web of Science]
    • (2007) Curr Opin Cardiol , vol.22 , pp. 193-199
    • Bos, J.M.1    Ommen, S.R.2    Ackerman, M.J.3
  • 24
    • 33644875533 scopus 로고    scopus 로고
    • mtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences
    • Abstract/FREE Full text
    • Ingman M, Gyllensten U. mtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences. Nucleic Acids Res 2006; 34: D749-51. [Abstract/FREE Full text]
    • (2006) Nucleic Acids Res , vol.34
    • Ingman, M.1    Gyllensten, U.2
  • 25
    • 0034466421 scopus 로고    scopus 로고
    • The oligomycin axis of mitochondrial ATP synthase: OSCP and the proton channel
    • [CrossRef] [Medline] [Web of Science]
    • Devenish RJ, Prescott M, Boyle GM, et al. The oligomycin axis of mitochondrial ATP synthase: OSCP and the proton channel. J Bioenerg Biomembr 2000; 32: 507-15. [CrossRef] [Medline] [Web of Science]
    • (2000) J Bioenerg Biomembr , vol.32 , pp. 507-515
    • Devenish, R.J.1    Prescott, M.2    Boyle, G.M.3
  • 26
    • 0034738103 scopus 로고    scopus 로고
    • Insights into ATP synthase assembly and function through the molecular genetic manipulation of subunits of the yeast mitochondrial enzyme complex
    • DOI 10.1016/S0005-2728(00)00092-X, PII S000527280000092X
    • Devenish RJ, Prescott M, Roucou X, et al. Insights into ATP synthase assembly and function through the molecular genetic manipulation of subunits of the yeast mitochondrial enzyme complex. Bioch Biophys Acta 2000; 1458: 428-42. [Medline] (Pubitemid 30320723)
    • (2000) Biochimica et Biophysica Acta - Bioenergetics , vol.1458 , Issue.2-3 , pp. 428-442
    • Devenish, R.J.1    Prescott, M.2    Roucou, X.3    Nagley, P.4
  • 27
    • 0029786323 scopus 로고    scopus 로고
    • Membrane topography and near-neighbor relationships of the mitochondrial ATP synthase subunits e, f, and g
    • DOI 10.1074/jbc.271.34.20340
    • Belogrudov GI, Tomich JM, Hatefi Y. Membrane topography and near-neighbor relationships of the mitochondrial ATP synthase subunits e, f and g. J Biol Chem 1996; 271: 20340-45 [Abstract/FREE Full text] (Pubitemid 26281800)
    • (1996) Journal of Biological Chemistry , vol.271 , Issue.34 , pp. 20340-20345
    • Belogrudov, G.I.1    Tomich, J.M.2    Hatefi, Y.3
  • 28
    • 0027281552 scopus 로고
    • Each of three positively-charged amino acids in the C-terminal region of yeast mitochondrial ATP synthase subunit 8 is required for assembly
    • DOI 10.1016/0005-2728(93)90026-C
    • Papakonstantinou T, Galanis M, Nagley P, et al. Each of the three positively-charged amino-acids in the C-terminal region of yeast mitochondrial ATP synthase subunit 8 is required for assembly . Biochim Biophys Acta 1993; 1144: 22-32. [Medline] (Pubitemid 23248006)
    • (1993) Biochimica et Biophysica Acta - Bioenergetics , vol.1144 , Issue.1 , pp. 22-32
    • Papakonstantinou, T.1    Galanis, M.2    Nagley, P.3    Devenish, R.J.4
  • 29
    • 0024299839 scopus 로고
    • +ATPase assembly defects in mit-mutants of Saccharomyces cerevisiae with a monoclonal antibody to the enzyme complex as an assembly probe
    • Medline
    • +ATPase assembly defects in mit-mutants of Saccharomyces cerevisiae with a monoclonal antibody to the enzyme complex as an assembly probe. Biochim Biophys Acta 1988; 933: 212-22. [Medline]
    • (1988) Biochim Biophys Acta , vol.933 , pp. 212-222
    • Hadikusumo, R.G.1    Meltzer, S.2    Choo, W.M.3
  • 30
    • 33645576104 scopus 로고    scopus 로고
    • Inefficient coupling between proton transport and ATP synthesis may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the T8993G mutation in mtDNA
    • [CrossRef] [Medline] [Web of Science]
    • Sgarbi G, Baracca A, Lenaz G, et al. Inefficient coupling between proton transport and ATP synthesis may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the T8993G mutation in mtDNA. Biochem J 2006; 395: 493-500. [CrossRef] [Medline] [Web of Science]
    • (2006) Biochem J , vol.395 , pp. 493-500
    • Sgarbi, G.1    Baracca, A.2    Lenaz, G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.