메뉴 건너뛰기




Volumn 38, Issue 5, 2006, Pages 576-582

Systematic identification of human mitochondrial disease genes through integrative genomics

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; MITOCHONDRIAL PROTEIN;

EID: 33646362551     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1776     Document Type: Article
Times cited : (293)

References (30)
  • 1
    • 0347269094 scopus 로고    scopus 로고
    • MitoP2, an integrated database on mitochondrial proteins in yeast and man
    • Andreoli, C. et al. MitoP2, an integrated database on mitochondrial proteins in yeast and man. Nucleic Acids Res. 32, D459-D462 (2004).
    • (2004) Nucleic Acids Res. , vol.32
    • Andreoli, C.1
  • 2
    • 0345863901 scopus 로고    scopus 로고
    • MitoProteome: Mitochondrial protein sequence database and annotation system
    • Cotter, D., Guda, P., Fahy, E. & Subramaniam, S. MitoProteome: mitochondrial protein sequence database and annotation system. Nucleic Acids Res. 32, D463-D467 (2004).
    • (2004) Nucleic Acids Res. , vol.32
    • Cotter, D.1    Guda, P.2    Fahy, E.3    Subramaniam, S.4
  • 3
    • 0033769442 scopus 로고    scopus 로고
    • High-throughput profiling of the mitochondrial proteome using affinity fractionation and automation
    • Lopez, M.F. et al. High-throughput profiling of the mitochondrial proteome using affinity fractionation and automation. Electrophoresis 21, 3427-3440 (2000).
    • (2000) Electrophoresis , vol.21 , pp. 3427-3440
    • Lopez, M.F.1
  • 4
    • 33646376465 scopus 로고    scopus 로고
    • MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion
    • advance online publication 2 April doi:10.1038/ng1765
    • Spinazzola, A. et al. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat. Genet., advance online publication 2 April 2006 (doi:10.1038/ng1765).
    • (2006) Nat. Genet.
    • Spinazzola, A.1
  • 5
    • 0034697980 scopus 로고    scopus 로고
    • Predicting subcellular localization of proteins based on their N-terminal amino acid sequence
    • Emanuelsson, O., Nielsen, H., Brunak, S. & von Heijne, G. Predicting subcellular localization of proteins based on their N-terminal amino acid sequence. J. Mol. Biol. 300, 1005-1016 (2000).
    • (2000) J. Mol. Biol. , vol.300 , pp. 1005-1016
    • Emanuelsson, O.1    Nielsen, H.2    Brunak, S.3    Von Heijne, G.4
  • 6
    • 10744224439 scopus 로고    scopus 로고
    • Integrated analysis of protein composition, tissue diversity, and gene regulation in mouse mitochondria
    • Mootha, V.K. et al. Integrated analysis of protein composition, tissue diversity, and gene regulation in mouse mitochondria. Cell 115, 629-640 (2003).
    • (2003) Cell , vol.115 , pp. 629-640
    • Mootha, V.K.1
  • 7
    • 0037336905 scopus 로고    scopus 로고
    • Characterization of the human heart mitochondrial proteome
    • Taylor, S.W. et al. Characterization of the human heart mitochondrial proteome. Nat. Biotechnol. 21, 281-286 (2003).
    • (2003) Nat. Biotechnol. , vol.21 , pp. 281-286
    • Taylor, S.W.1
  • 8
    • 0142052944 scopus 로고    scopus 로고
    • A Bayesian networks approach for predicting protein-protein interactions from genomic data
    • Jansen, R. et al. A Bayesian networks approach for predicting protein-protein interactions from genomic data. Science 302, 449-453 (2003).
    • (2003) Science , vol.302 , pp. 449-453
    • Jansen, R.1
  • 9
    • 16644368723 scopus 로고    scopus 로고
    • Integrative analysis of the mitochondrial proteome in yeast
    • Prokisch, H. et al. Integrative analysis of the mitochondrial proteome in yeast. PLoS Biol. 2, e160 (2004).
    • (2004) PLoS Biol. , vol.2
    • Prokisch, H.1
  • 10
    • 2342477730 scopus 로고    scopus 로고
    • Erralpha and Gabpa/b specify PGC-1alpha-dependent oxidative phosphorylation gene expression that is altered in diabetic muscle
    • Mootha, V.K. et al. Erralpha and Gabpa/b specify PGC-1alpha-dependent oxidative phosphorylation gene expression that is altered in diabetic muscle. Proc. Natl. Acad. Sci. USA 101, 6570-6575 (2004).
    • (2004) Proc. Natl. Acad. Sci. USA , vol.101 , pp. 6570-6575
    • Mootha, V.K.1
  • 11
    • 0032512051 scopus 로고    scopus 로고
    • The genome sequence of Rickettsia prowazekii and the origin of mitochondria
    • Andersson, S.G. et al. The genome sequence of Rickettsia prowazekii and the origin of mitochondria. Nature 396, 133-140 (1998).
    • (1998) Nature , vol.396 , pp. 133-140
    • Andersson, S.G.1
  • 12
    • 11144358198 scopus 로고    scopus 로고
    • A gene atlas of the mouse and human protein-encoding transcriptomes
    • Su, A.I. et al. A gene atlas of the mouse and human protein-encoding transcriptomes. Proc. Natl. Acad. Sci. USA 101, 6062-6067 (2004).
    • (2004) Proc. Natl. Acad. Sci. USA , vol.101 , pp. 6062-6067
    • Su, A.I.1
  • 13
    • 0037102256 scopus 로고    scopus 로고
    • Transcriptional co-activator PGC-1 alpha drives the formation of slow-twitch muscle fibres
    • Lin, J. et al. Transcriptional co-activator PGC-1 alpha drives the formation of slow-twitch muscle fibres. Nature 418, 797-801 (2002).
    • (2002) Nature , vol.418 , pp. 797-801
    • Lin, J.1
  • 14
    • 3242875263 scopus 로고    scopus 로고
    • MITOPRED: A genome-scale method for prediction of nucleus-encoded mitochondrial proteins
    • Guda, C., Fahy, E. & Subramaniam, S. MITOPRED: a genome-scale method for prediction of nucleus-encoded mitochondrial proteins. Bioinformatics 20, 1785-1794 (2004).
    • (2004) Bioinformatics , vol.20 , pp. 1785-1794
    • Guda, C.1    Fahy, E.2    Subramaniam, S.3
  • 15
    • 0033567388 scopus 로고    scopus 로고
    • ECSIT is an evolutionary conserved intermediate in the Toll/IL-1 signal transduction pathway
    • Kopp, E. et al. ECSIT is an evolutionary conserved intermediate in the Toll/IL-1 signal transduction pathway. Genes Dev. 13, 2059-2071 (1999).
    • (1999) Genes Dev. , vol.13 , pp. 2059-2071
    • Kopp, E.1
  • 16
    • 1642341366 scopus 로고    scopus 로고
    • Mitochondriopathies
    • Finsterer, J. Mitochondriopathies. Eur. J. Neurol. 11, 163-186 (2004).
    • (2004) Eur. J. Neurol. , vol.11 , pp. 163-186
    • Finsterer, J.1
  • 17
  • 18
    • 0344236412 scopus 로고    scopus 로고
    • Genetic features of mitochondrial respiratory chain disorders
    • Rotig, A. & Munnich, A. Genetic features of mitochondrial respiratory chain disorders. J. Am. Soc. Nephrol. 14, 2995-3007 (2003).
    • (2003) J. Am. Soc. Nephrol. , vol.14 , pp. 2995-3007
    • Rotig, A.1    Munnich, A.2
  • 19
    • 14244259670 scopus 로고    scopus 로고
    • Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease
    • Scaglia, F. et al. Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics 114, 925-931 (2004).
    • (2004) Pediatrics , vol.114 , pp. 925-931
    • Scaglia, F.1
  • 20
    • 0034774689 scopus 로고    scopus 로고
    • Nuclear gene defects in respiratory chain disorders
    • Shoubridge, E.A. Nuclear gene defects in respiratory chain disorders. Semin. Neurol. 21, 261-267 (2001).
    • (2001) Semin. Neurol. , vol.21 , pp. 261-267
    • Shoubridge, E.A.1
  • 21
    • 2942562564 scopus 로고    scopus 로고
    • Mitochondrial disorders: Prevalence, myths and advances
    • Thorburn, D.R. Mitochondrial disorders: prevalence, myths and advances. J. Inherit. Metab. Dis. 27, 349-362 (2004).
    • (2004) J. Inherit. Metab. Dis. , vol.27 , pp. 349-362
    • Thorburn, D.R.1
  • 22
    • 0028117114 scopus 로고
    • The glomerulosclerosis gene Mpv17 encodes a peroxisomal protein producing reactive oxygen species
    • Zwacka, R.M. et al. The glomerulosclerosis gene Mpv17 encodes a peroxisomal protein producing reactive oxygen species. EMBO J. 13, 5129-5134 (1994).
    • (1994) EMBO J. , vol.13 , pp. 5129-5134
    • Zwacka, R.M.1
  • 23
    • 0038054341 scopus 로고    scopus 로고
    • PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes
    • Mootha, V.K. et al. PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes. Nat. Genet. 34, 267-273 (2003).
    • (2003) Nat. Genet. , vol.34 , pp. 267-273
    • Mootha, V.K.1
  • 24
    • 0031845305 scopus 로고    scopus 로고
    • MEHMO (mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly, obesity), a novel syndrome: Assignment of disease locus to xp21.1-p22.13
    • Steinmuller, R., Steinberger, D. & Muller, U. MEHMO (mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly, obesity), a novel syndrome: assignment of disease locus to xp21.1-p22.13. Eur. J. Hum. Genet. 6, 201-206 (1998).
    • (1998) Eur. J. Hum. Genet. , vol.6 , pp. 201-206
    • Steinmuller, R.1    Steinberger, D.2    Muller, U.3
  • 25
    • 18044403702 scopus 로고    scopus 로고
    • Mapping of the second Friedreich's ataxia (FRDA2) locus to chromosome 9p23-p11: Evidence for further locus heterogeneity
    • Christodoulou, K. et al. Mapping of the second Friedreich's ataxia (FRDA2) locus to chromosome 9p23-p11: evidence for further locus heterogeneity. Neurogenetics 3, 127-132 (2001).
    • (2001) Neurogenetics , vol.3 , pp. 127-132
    • Christodoulou, K.1
  • 26
    • 0028809123 scopus 로고
    • Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: Evidence for genetic heterogeneity
    • Mariman, E.C., van Beersum, S.E., Cremers, C.W., Struycken, P.M. & Ropers, H.H. Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity. Hum. Genet. 95, 56-62 (1995).
    • (1995) Hum. Genet. , vol.95 , pp. 56-62
    • Mariman, E.C.1    Van Beersum, S.E.2    Cremers, C.W.3    Struycken, P.M.4    Ropers, H.H.5
  • 27
    • 0035121867 scopus 로고    scopus 로고
    • A novel syndrome affecting multiple mitochondrial functions, located by microcell-mediated transfer to chromosome 2p14-2p13
    • Seyda, A. et al. A novel syndrome affecting multiple mitochondrial functions, located by microcell-mediated transfer to chromosome 2p14-2p13. Am. J. Hum. Genet. 68, 386-396 (2001).
    • (2001) Am. J. Hum. Genet. , vol.68 , pp. 386-396
    • Seyda, A.1
  • 28
    • 0346008069 scopus 로고    scopus 로고
    • Infantile bilateral striatal necrosis maps to chromosome 19q
    • Basel-Vanagaite, L. et al. Infantile bilateral striatal necrosis maps to chromosome 19q. Neurology 62, 87-90 (2004).
    • (2004) Neurology , vol.62 , pp. 87-90
    • Basel-Vanagaite, L.1
  • 29
    • 0033028406 scopus 로고    scopus 로고
    • Genetic heterogeneity of dominant optic atrophy, Kjer type: Identification of a second locus on chromosome 18q12.2-12.3
    • Kerrison, J.B. et al. Genetic heterogeneity of dominant optic atrophy, Kjer type: Identification of a second locus on chromosome 18q12.2-12.3. Arch. Ophthalmol. 117, 805-810 (1999).
    • (1999) Arch. Ophthalmol. , vol.117 , pp. 805-810
    • Kerrison, J.B.1
  • 30
    • 0033942396 scopus 로고    scopus 로고
    • Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q
    • El-Shanti, H., Lidral, A.C., Jarrah, N., Druhan, L. & Ajlouni, K. Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q. Am. J. Hum. Genet. 66, 1229-1236 (2000).
    • (2000) Am. J. Hum. Genet. , vol.66 , pp. 1229-1236
    • El-Shanti, H.1    Lidral, A.C.2    Jarrah, N.3    Druhan, L.4    Ajlouni, K.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.