메뉴 건너뛰기




Volumn 355, Issue 1, 2007, Pages 181-187

The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy

Author keywords

Leber hereditary optic neuropathy (LHON); mtDNA; NDUFB11; X chromosome

Indexed keywords

ARTICLE; BRAIN; CARDIOMYOPATHY; CHILD; CHROMOSOME XP; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; FAMILY STUDY; FEMALE; FIBROBLAST CULTURE; GENE; GENE EXPRESSION; GENE MAPPING; GENE MUTATION; GENETIC DISORDER; HUMAN; HUMAN CELL; INFANT; ITALY; LEBER HEREDITARY OPTIC NEUROPATHY; LEIGH DISEASE; MAJOR CLINICAL STUDY; MALE; MITOCHONDRIAL ENCEPHALOPATHY; MUSCLE HYPOTONIA; NDUFB11 GENE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; ONSET AGE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SKELETAL MUSCLE; SKIN FIBROBLAST; X CHROMOSOME RECESSIVE DISORDER;

EID: 33847079619     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2007.01.140     Document Type: Article
Times cited : (11)

References (40)
  • 2
    • 0029883737 scopus 로고    scopus 로고
    • Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations
    • Nikoskelainen E.K., Huoponen K., Juvonen V., Lamminen T., Nummelin K., and Savontaus M.L. Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations. Ophthalmology 103 (1996) 504-514
    • (1996) Ophthalmology , vol.103 , pp. 504-514
    • Nikoskelainen, E.K.1    Huoponen, K.2    Juvonen, V.3    Lamminen, T.4    Nummelin, K.5    Savontaus, M.L.6
  • 3
    • 0030788483 scopus 로고    scopus 로고
    • Leber hereditary optic neuropathy: how do mitochondrial DNA mutations cause degeneration of the optic nerve?
    • Howell N. Leber hereditary optic neuropathy: how do mitochondrial DNA mutations cause degeneration of the optic nerve?. J. Bioenerg. Biomembr. 29 (1997) 165-173
    • (1997) J. Bioenerg. Biomembr. , vol.29 , pp. 165-173
    • Howell, N.1
  • 5
    • 33745410626 scopus 로고    scopus 로고
    • Mitochondrial disease
    • Schapira A.H. Mitochondrial disease. Lancet 368 (2006) 70-82
    • (2006) Lancet , vol.368 , pp. 70-82
    • Schapira, A.H.1
  • 6
    • 0036895724 scopus 로고    scopus 로고
    • From genotype to phenotype in Leber hereditary optic neuropathy: still more questions than answers
    • Newman N.J. From genotype to phenotype in Leber hereditary optic neuropathy: still more questions than answers. J. Neuroophthalmol. 22 (2002) 257-261
    • (2002) J. Neuroophthalmol. , vol.22 , pp. 257-261
    • Newman, N.J.1
  • 7
    • 0025820109 scopus 로고
    • X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation
    • Bu X., and Rotter J.I. X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation. Proc. Natl. Acad. Sci. USA 88 (1991) 8198-8202
    • (1991) Proc. Natl. Acad. Sci. USA , vol.88 , pp. 8198-8202
    • Bu, X.1    Rotter, J.I.2
  • 8
    • 0027159181 scopus 로고
    • The two locus control of Leber hereditary optic neuropathy and a high penetrance in Japanese pedigrees
    • Nakamura M., Fujiwara Y., and Yamamoto M. The two locus control of Leber hereditary optic neuropathy and a high penetrance in Japanese pedigrees. Hum. Genet. 91 (1993) 339-341
    • (1993) Hum. Genet. , vol.91 , pp. 339-341
    • Nakamura, M.1    Fujiwara, Y.2    Yamamoto, M.3
  • 11
    • 0037184987 scopus 로고    scopus 로고
    • Definition of the nuclear encoded protein composition of bovine heart mitochondrial complex I: identification of two new subunits
    • Carroll J., Shannon R.J., Fearnley I.M., Walker J.E., and Hirst J. Definition of the nuclear encoded protein composition of bovine heart mitochondrial complex I: identification of two new subunits. J. Biol. Chem. 277 (2002) 50311-50317
    • (2002) J. Biol. Chem. , vol.277 , pp. 50311-50317
    • Carroll, J.1    Shannon, R.J.2    Fearnley, I.M.3    Walker, J.E.4    Hirst, J.5
  • 16
    • 0034044314 scopus 로고    scopus 로고
    • The PSIPRED protein structure prediction server
    • McGuffin L.J., Bryson K., and Jones D.T. The PSIPRED protein structure prediction server. Bioinformatics 16 (2000) 404-405
    • (2000) Bioinformatics , vol.16 , pp. 404-405
    • McGuffin, L.J.1    Bryson, K.2    Jones, D.T.3
  • 17
    • 0032862063 scopus 로고    scopus 로고
    • Cloning and tissue expressional characterization of a full-length cDNA encoding human neuronal protein P17.3
    • Cui Y., Yu L., Gong R., Zhang M., Fan Y., Yue P., and Zhao S. Cloning and tissue expressional characterization of a full-length cDNA encoding human neuronal protein P17.3. Biochem. Genet. 37 (1999) 175-185
    • (1999) Biochem. Genet. , vol.37 , pp. 175-185
    • Cui, Y.1    Yu, L.2    Gong, R.3    Zhang, M.4    Fan, Y.5    Yue, P.6    Zhao, S.7
  • 19
    • 0028282928 scopus 로고
    • Electrospray ionization mass spectrometric analysis of subunits of NADH:ubiquinone oxidoreductase (complex I) from bovine heart mitochondria
    • Fearnley I.M., Skehel J.M., and Walker J.E. Electrospray ionization mass spectrometric analysis of subunits of NADH:ubiquinone oxidoreductase (complex I) from bovine heart mitochondria. Biochem. Soc. Trans. 22 (1994) 551-555
    • (1994) Biochem. Soc. Trans. , vol.22 , pp. 551-555
    • Fearnley, I.M.1    Skehel, J.M.2    Walker, J.E.3
  • 21
    • 0037077251 scopus 로고    scopus 로고
    • Species-specific and mutant MWFE proteins. Their effect on the assembly of a functional mammalian mitochondrial complex I
    • Yadava N., Potluri P., Smith E.N., Bisevac A., and Scheffler I.E. Species-specific and mutant MWFE proteins. Their effect on the assembly of a functional mammalian mitochondrial complex I. J. Biol. Chem. 277 (2002) 21221-21230
    • (2002) J. Biol. Chem. , vol.277 , pp. 21221-21230
    • Yadava, N.1    Potluri, P.2    Smith, E.N.3    Bisevac, A.4    Scheffler, I.E.5
  • 22
    • 0033198297 scopus 로고    scopus 로고
    • Neuronal-specific mammalian homolog of the Drosophila retinal degeneration B gene with expression restricted to the retina and dentate gyrus
    • Lu C., Vihtelic T.S., Hyde D.R., and Li T. Neuronal-specific mammalian homolog of the Drosophila retinal degeneration B gene with expression restricted to the retina and dentate gyrus. J. Neurosci. 19 (1999) 7317-7325
    • (1999) J. Neurosci. , vol.19 , pp. 7317-7325
    • Lu, C.1    Vihtelic, T.S.2    Hyde, D.R.3    Li, T.4
  • 23
    • 2942726285 scopus 로고    scopus 로고
    • The phosphorylation of subunits of complex I from bovine heart mitochondria
    • Chen R., Fearnley I.M., Peak-Chew S.Y., and Walker J.E. The phosphorylation of subunits of complex I from bovine heart mitochondria. J. Biol. Chem. 279 (2004) 26036-26045
    • (2004) J. Biol. Chem. , vol.279 , pp. 26036-26045
    • Chen, R.1    Fearnley, I.M.2    Peak-Chew, S.Y.3    Walker, J.E.4
  • 24
    • 33847033143 scopus 로고    scopus 로고
    • Expression of Ndufb11 encoding the neuronal protein 15.6 during neurite outgrowth and development
    • Epub ahead of print
    • Gurok U., Bork K., Nuber U., Sporle R., Nohring S., and Horstkorte R. Expression of Ndufb11 encoding the neuronal protein 15.6 during neurite outgrowth and development. Gene. Expr. Patterns (2006) Epub ahead of print
    • (2006) Gene. Expr. Patterns
    • Gurok, U.1    Bork, K.2    Nuber, U.3    Sporle, R.4    Nohring, S.5    Horstkorte, R.6
  • 25
    • 9644268262 scopus 로고    scopus 로고
    • Molecular genetics of complex I-deficient Chinese hamster cell lines
    • Scheffler I.E., Yadava N., and Potluri P. Molecular genetics of complex I-deficient Chinese hamster cell lines. Biochim. Biophys. Acta 1659 (2004) 160-171
    • (2004) Biochim. Biophys. Acta , vol.1659 , pp. 160-171
    • Scheffler, I.E.1    Yadava, N.2    Potluri, P.3
  • 26
    • 18544384889 scopus 로고    scopus 로고
    • Severe impairment of complex I-driven adenosine triphosphate synthesis in Leber hereditary optic neuropathy cybrids
    • Baracca A., Solaini G., Sgarbi G., Lenaz G., Baruzzi A., Schapira A.H., Martinuzzi A., and Carelli V. Severe impairment of complex I-driven adenosine triphosphate synthesis in Leber hereditary optic neuropathy cybrids. Arch. Neurol. 62 (2005) 730-736
    • (2005) Arch. Neurol. , vol.62 , pp. 730-736
    • Baracca, A.1    Solaini, G.2    Sgarbi, G.3    Lenaz, G.4    Baruzzi, A.5    Schapira, A.H.6    Martinuzzi, A.7    Carelli, V.8
  • 32
    • 33745394130 scopus 로고    scopus 로고
    • Alternative splicing and RNA selection pressure-evolutionary consequences for eukaryotic genomes
    • Xing Y., and Lee C. Alternative splicing and RNA selection pressure-evolutionary consequences for eukaryotic genomes. Nat. Rev. Genet. 7 (2006) 499-509
    • (2006) Nat. Rev. Genet. , vol.7 , pp. 499-509
    • Xing, Y.1    Lee, C.2
  • 34
    • 0035500580 scopus 로고    scopus 로고
    • Connexin 26 gene (GJB2) mutation modulates the severity of hearing loss associated with the 1555A→G mitochondrial mutation
    • Abe S., Kelley P.M., Kimberling W.J., and Usami S.I. Connexin 26 gene (GJB2) mutation modulates the severity of hearing loss associated with the 1555A→G mitochondrial mutation. Am. J. Med. Genet. 103 (2001) 334-338
    • (2001) Am. J. Med. Genet. , vol.103 , pp. 334-338
    • Abe, S.1    Kelley, P.M.2    Kimberling, W.J.3    Usami, S.I.4
  • 38
    • 0141478672 scopus 로고    scopus 로고
    • Lack of a modulative factor in locus 8p23 in a Finnish family with nonsyndromic sensorineural hearing loss associated with the 1555A>G mitochondrial DNA mutation
    • Finnila S., and Majamaa K. Lack of a modulative factor in locus 8p23 in a Finnish family with nonsyndromic sensorineural hearing loss associated with the 1555A>G mitochondrial DNA mutation. Eur. J. Hum. Genet. 11 (2003) 652-658
    • (2003) Eur. J. Hum. Genet. , vol.11 , pp. 652-658
    • Finnila, S.1    Majamaa, K.2
  • 39
    • 33749463802 scopus 로고    scopus 로고
    • Variants in mitochondrial tRNA(Glu), tRNA(Arg), and tRNA(Thr) may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese families with hearing loss
    • Young W.Y., Zhao L., Qian Y., Li R., Chen J., Yuan H., Dai P., Zhai S., Han D., and Guan M.X. Variants in mitochondrial tRNA(Glu), tRNA(Arg), and tRNA(Thr) may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese families with hearing loss. Am. J. Med. Genet. A 140 (2006) 2188-2197
    • (2006) Am. J. Med. Genet. A , vol.140 , pp. 2188-2197
    • Young, W.Y.1    Zhao, L.2    Qian, Y.3    Li, R.4    Chen, J.5    Yuan, H.6    Dai, P.7    Zhai, S.8    Han, D.9    Guan, M.X.10


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.