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Volumn 39, Issue 1, 2012, Pages 22-30

Mitochondrial tRNA mutations associated with hearing loss

Author keywords

Mitochondrial tRNA; Mutations; Primary mutation; Secondary mutation

Indexed keywords


EID: 84863294484     PISSN: 10003282     EISSN: None     Source Type: Journal    
DOI: 10.3724/SP.J.1206.2011.00025     Document Type: Article
Times cited : (3)

References (56)
  • 1
    • 0037092599 scopus 로고    scopus 로고
    • Genetics, genomics and gene discovery in the auditory system
    • Morton C C. Genetics, genomics and gene discovery in the auditory system. Hum Mol Genet, 2002, 11(10):1229-1240 (Pubitemid 34567502)
    • (2002) Human Molecular Genetics , vol.11 , Issue.10 , pp. 1229-1240
    • Morton, C.C.1
  • 2
    • 79251600222 scopus 로고    scopus 로고
    • Mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity
    • Guan M X. Mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity. Mitochondrion, 2011, 11(2):237-245
    • (2011) Mitochondrion , vol.11 , Issue.2 , pp. 237-245
    • Guan, M.X.1
  • 3
    • 0033735040 scopus 로고    scopus 로고
    • Search for characteristic structural features of mammalian mitochondrial tRNAs
    • Helm M, Brule H, Friede D, et al. Search for characteristic structural features of mammalian mitochondrial tRNAs. RNA, 2000, 6(10):1356-1379
    • (2000) RNA , vol.6 , Issue.10 , pp. 1356-1379
    • Helm, M.1    Brule, H.2    Friede, D.3
  • 4
    • 70450250078 scopus 로고    scopus 로고
    • Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation
    • Lu J, Qian Y, Li Z, et al. Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation. Mitochondrion, 2010, 10(1):69-81
    • (2010) Mitochondrion , vol.10 , Issue.1 , pp. 69-81
    • Lu, J.1    Qian, Y.2    Li, Z.3
  • 5
    • 0026906885 scopus 로고
    • Leu (UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness
    • Leu (UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet, 1992, 1(5):368-371
    • (1992) Nat Genet , vol.1 , Issue.5 , pp. 368-371
    • Van Den Ouweland, J.M.1    Lemkes, H.H.2    Ruitenbeek, W.3
  • 7
    • 78650515513 scopus 로고    scopus 로고
    • Mitochondrial dementia: A sporadic case of progressive cognitive and behavioral decline with hearing loss due to the rare m.3291T>C MELAS mutation
    • Salsano E, Giovagnoli A R, Morandi L, et al. Mitochondrial dementia: A sporadic case of progressive cognitive and behavioral decline with hearing loss due to the rare m.3291T>C MELAS mutation. J Neurol Sci, 2011, 300(1-2): 165-168
    • (2011) J Neurol Sci , vol.300 , Issue.1-2 , pp. 165-168
    • Salsano, E.1    Giovagnoli, A.R.2    Morandi, L.3
  • 9
    • 0034705419 scopus 로고    scopus 로고
    • The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke- like episode syndrome-associated human mitochondrial tRNA(Leu(UUR)) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes
    • DOI 10.1074/jbc.M908734199
    • Leu (UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes. J Biol Chem, 2000, 275(25):19198-19209 (Pubitemid 30422891)
    • (2000) Journal of Biological Chemistry , vol.275 , Issue.25 , pp. 19198-19209
    • Chomyn, A.1    Enriquez, J.A.2    Micol, V.3    Fernandez-Silva, P.4    Attardi, G.5
  • 10
    • 25444436228 scopus 로고    scopus 로고
    • Human mitochondrial diseases associated with tRNA wobble modification deficiency
    • Kirino Y, Suzuki T. Human mitochondrial diseases associated with tRNA wobble modification deficiency. RNA Biol, 2005, 2(2):41-44 (Pubitemid 41359797)
    • (2005) RNA Biology , vol.2 , Issue.2 , pp. 41-44
    • Kirino, Y.1    Suzuki, T.2
  • 14
    • 0029059067 scopus 로고
    • MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNALys and premature translation termination
    • Enriquez J A, Chomyn A, Attardi G. MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNALys and premature translation termination. Nat Genet, 1995, 10(1):47-55
    • (1995) Nat Genet , vol.10 , Issue.1 , pp. 47-55
    • Enriquez, J.A.1    Chomyn, A.2    Attardi, G.3
  • 17
    • 0032697467 scopus 로고    scopus 로고
    • Molecular phenotype of the np 7472 deafness-associated mitochondrial mutation in osteosarcoma cell cybrids
    • DOI 10.1093/hmg/8.12.2275
    • Toompuu M, Tiranti V, Zeviani M, et al. Molecular phenotype of the np 7472 deafness-associated mitochondrial mutation in osteosarcoma cell cybrids. Hum Mol Genet, 1999, 8(12):2275-2283 (Pubitemid 29525343)
    • (1999) Human Molecular Genetics , vol.8 , Issue.12 , pp. 2275-2283
    • Toompuu, M.1    Tiranti, V.2    Zeviani, M.3    Jacobs, H.T.4
  • 19
    • 0029145589 scopus 로고
    • Ser (UCN) gene detected in a family with MERRF/MELAS overlap syndrome
    • Ser (UCN) gene detected in a family with MERRF/MELAS overlap syndrome. Biochem Biophys Res Commun, 1995, 214(1):86-93
    • (1995) Biochem Biophys Res Commun , vol.214 , Issue.1 , pp. 86-93
    • Nakamura, M.1    Nakano, S.2    Goto, Y.3
  • 20
    • 19944432928 scopus 로고    scopus 로고
    • Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment
    • Jacobs H T, Hutchin T P, Kappi T, et al. Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment. Eur J Hum Genet, 2005, 13(1):26-33
    • (2005) Eur J Hum Genet , vol.13 , Issue.1 , pp. 26-33
    • Jacobs, H.T.1    Hutchin, T.P.2    Kappi, T.3
  • 23
    • 0034955834 scopus 로고    scopus 로고
    • Association of the T14709C mutation of mitochondrial DNA with maternally inherited diabetes mellitus and/or deafness in an Italian family
    • Rigoli L, Prisco F, Caruso R A, et al. Association of the T14709C mutation of mitochondrial DNA with maternally inherited diabetes mellitus and/or deafness in an Italian family. Diabet Med, 2001, 18(4):334-336
    • (2001) Diabet Med , vol.18 , Issue.4 , pp. 334-336
    • Rigoli, L.1    Prisco, F.2    Caruso, R.A.3
  • 29
    • 78149475340 scopus 로고    scopus 로고
    • Phe mutation associated with a progressive neurodegenerative disorder characterized by psychiatric disturbance, dementia, and akinesia-rigidity
    • Phe mutation associated with a progressive neurodegenerative disorder characterized by psychiatric disturbance, dementia, and akinesia-rigidity. Arch Neurol, 2010, 67(11):1399-1402
    • (2010) Arch Neurol , vol.67 , Issue.11 , pp. 1399-1402
    • Young, T.M.1    Blakely, E.L.2    Swalwell, H.3
  • 31
    • 67349197091 scopus 로고    scopus 로고
    • Identification of novel mutations in five patients with mitochondrial encephalomyopathy
    • Valente L, Piga D, Lamantea E, et al. Identification of novel mutations in five patients with mitochondrial encephalomyopathy. Biochim Biophys Acta, 2009, 1787(5):491-501
    • (2009) Biochim Biophys Acta , vol.1787 , Issue.5 , pp. 491-501
    • Valente, L.1    Piga, D.2    Lamantea, E.3
  • 36
    • 0029658242 scopus 로고    scopus 로고
    • A novel heteroplasmic tRNA(leu(CUN)) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy
    • DOI 10.1093/hmg/5.11.1835
    • Leu (CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy. Hum Mol Genet, 1996, 5(11):1835-1840 (Pubitemid 26372421)
    • (1996) Human Molecular Genetics , vol.5 , Issue.11 , pp. 1835-1840
    • Fu, K.1    Hartlen, R.2    Johns, T.3    Genge, A.4    Karpati, G.5    Shoubridge, E.A.6
  • 37
    • 74849102571 scopus 로고    scopus 로고
    • Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNALeu (C UN) gene
    • Coku J, Shanske S, Mehrazin M, et al. Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNALeu (C UN) gene. J Neurol Sci, 2010, 290(1-2): 166-168
    • (2010) J Neurol Sci , vol.290 , Issue.1-2 , pp. 166-168
    • Coku, J.1    Shanske, S.2    Mehrazin, M.3
  • 39
    • 67749106029 scopus 로고    scopus 로고
    • Pro gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency
    • Pro gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency. Eur J Hum Genet, 2009, 17(8):1092-1096
    • (2009) Eur J Hum Genet , vol.17 , Issue.8 , pp. 1092-1096
    • Da Pozzo, P.1    Cardaioli, E.2    Malfatti, E.3
  • 41
    • 53249132725 scopus 로고    scopus 로고
    • A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: Are two mutations better than one?
    • Swalwell H, Blakely E L, Sutton R, et al. A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?. Eur J Hum Genet, 2008, 16(10):1265-1274
    • (2008) Eur J Hum Genet , vol.16 , Issue.10 , pp. 1265-1274
    • Swalwell, H.1    Blakely, E.L.2    Sutton, R.3
  • 42
    • 54949102718 scopus 로고    scopus 로고
    • Ser (UCN) genes in nonsyndromic hearing loss patients
    • Ser (UCN) genes in nonsyndromic hearing loss patients. Mitochondrion, 2008, 8(5-6): 377-382
    • (2008) Mitochondrion , vol.8 , Issue.5-6 , pp. 377-382
    • Konings, A.1    Van Camp, G.2    Goethals, A.3
  • 43
    • 77950520149 scopus 로고    scopus 로고
    • Ser (UCN) 7505T>C mutation in a Han Chinese family
    • Ser (UCN) 7505T>C mutation in a Han Chinese family. Mol Genet Metab, 2010, 100(1):57-64
    • (2010) Mol Genet Metab , vol.100 , Issue.1 , pp. 57-64
    • Tang, X.1    Li, R.2    Zheng, J.3
  • 46
    • 0043066954 scopus 로고    scopus 로고
    • Increased variation in mtDNA in patients with familial sensorineural hearing impairment
    • DOI 10.1007/s00439-003-0966-9
    • Lehtonen M S, Moilanen J S, Majamaa K. Increased variation in mtDNA in patients with familial sensorineural hearing impairment. Hum Genet, 2003, 113(3):220-227 (Pubitemid 36992280)
    • (2003) Human Genetics , vol.113 , Issue.3 , pp. 220-227
    • Lehtonen, M.S.1    Moilanen, J.S.2    Majamaa, K.3
  • 49
    • 0028288558 scopus 로고
    • A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness
    • Reid F M, Vernham G A, Jacobs H T. A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. Hum Mutat, 1994, 3(3):243-247 (Pubitemid 24122242)
    • (1994) Human Mutation , vol.3 , Issue.3 , pp. 243-247
    • Reid, F.M.1    Vernham, G.A.2    Jacobs, H.T.3
  • 50
    • 78650101315 scopus 로고    scopus 로고
    • Role of the mitochondrial mutations, m.827A>G and the novel m.7462C>T, in the origin of hearing loss
    • Uehara D T, Rincon D, Abreu-Silva R S, et al. Role of the mitochondrial mutations, m.827A>G and the novel m.7462C>T, in the origin of hearing loss. Genet Test Mol Biomarkers, 2010, 14(5):611-616
    • (2010) Genet Test Mol Biomarkers , vol.14 , Issue.5 , pp. 611-616
    • Uehara, D.T.1    Rincon, D.2    Abreu-Silva, R.S.3
  • 51
    • 0033833303 scopus 로고    scopus 로고
    • Ser (UCN) gene in a family with non-syndromic sensorineural hearing impairment
    • Ser (UCN) gene in a family with non-syndromic sensorineural hearing impairment. J Med Genet, 2000, 37(9):692-694
    • (2000) J Med Genet , vol.37 , Issue.9 , pp. 692-694
    • Hutchin, T.P.1    Parker, M.J.2    Young, I.D.3
  • 52
    • 77950215268 scopus 로고    scopus 로고
    • Extensive and rapid screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss
    • Kato T, Nishigaki Y, Noguchi Y, et al. Extensive and rapid screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss. J Hum Genet, 2010, 55(3):147-154
    • (2010) J Hum Genet , vol.55 , Issue.3 , pp. 147-154
    • Kato, T.1    Nishigaki, Y.2    Noguchi, Y.3
  • 54
    • 57149125444 scopus 로고    scopus 로고
    • Thr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families
    • Thr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families. Pharmacogenet Genomics, 2008, 18(12):1059-1070
    • (2008) Pharmacogenet Genomics , vol.18 , Issue.12 , pp. 1059-1070
    • Wang, X.1    Lu, J.2    Zhu, Y.3
  • 55
    • 0035497972 scopus 로고    scopus 로고
    • Ser(UCN) precursor with the U7445C substitution, which causes non-syndromic deafness
    • Ser (UCN) precursor with the U7445C substitution, which causes non-syndromic deafness. Nucleic Acids Res, 2001, 29(21):4334-4340 (Pubitemid 33064773)
    • (2001) Nucleic Acids Research , vol.29 , Issue.21 , pp. 4334-4340
    • Levinger, L.1    Jacobs, O.2    James, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.