메뉴 건너뛰기




Volumn 160, Issue 2, 1998, Pages 183-188

Leber's hereditary optic neuropathy (LHON) with 14484/ND6 mutation in a North African patient

Author keywords

14484 LHON mutation; Idebenone; Leber's Hereditary Optic Neuropathy; Mitochondria; MtDNA haplogroups; Visual recovery

Indexed keywords

CORTICOSTEROID; CYANOCOBALAMIN; IDEBENONE; LACTIC ACID; MITOCHONDRIAL DNA;

EID: 0032497575     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-510X(98)00239-1     Document Type: Article
Times cited : (45)

References (24)
  • 1
    • 0026531040 scopus 로고
    • Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy
    • Brown M.D., Voljavec A.S., Lott M.T., Torroni A., Yang C.-C., Wallace D.C. Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy. Genetics. 130:1992;163-173.
    • (1992) Genetics , vol.130 , pp. 163-173
    • Brown, M.D.1    Voljavec, A.S.2    Lott, M.T.3    Torroni, A.4    Yang, C.-C.5    Wallace, D.C.6
  • 2
    • 0028788493 scopus 로고
    • Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicate multiple independent occurrences of the common mutations
    • Brown M.D., Torroni A., Reckord C.L., Wallace D.C. Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicate multiple independent occurrences of the common mutations. Hum. Mutat. 6:1995;311-325.
    • (1995) Hum. Mutat. , vol.6 , pp. 311-325
    • Brown, M.D.1    Torroni, A.2    Reckord, C.L.3    Wallace, D.C.4
  • 3
    • 0031034482 scopus 로고    scopus 로고
    • Clustering of Caucasian Leber Hereditary Optic Neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage
    • Brown M.D., Sun F., Wallace D.C. Clustering of Caucasian Leber Hereditary Optic Neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage. Am. J. Hum. Genet. 60:1997;381-387.
    • (1997) Am. J. Hum. Genet. , vol.60 , pp. 381-387
    • Brown, M.D.1    Sun, F.2    Wallace, D.C.3
  • 5
    • 0000701926 scopus 로고    scopus 로고
    • The interaction of Q analogs, particularly hydroxydecyl benzoquinone (idebenone), with the respiratory complexes of heart mitochondria
    • Degli Esposti M., Ngo A., Ghelli A., Benelli B., Carelli V., McLennan H., Linnane A.W. The interaction of Q analogs, particularly hydroxydecyl benzoquinone (idebenone), with the respiratory complexes of heart mitochondria. Arch. Biochem. Biophys. 330:1996;395-400.
    • (1996) Arch. Biochem. Biophys. , vol.330 , pp. 395-400
    • Degli Esposti, M.1    Ngo, A.2    Ghelli, A.3    Benelli, B.4    Carelli, V.5    McLennan, H.6    Linnane, A.W.7
  • 6
    • 0031024138 scopus 로고    scopus 로고
    • Wolfram (DIDMOAD) syndrome and Leber's Hereditary Optic Neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes
    • Hofmann S., Bezold R., Jaksch M., Obermaier-Kusser B., Mertens S., Kaufhold P., Rabl W.et al. Wolfram (DIDMOAD) syndrome and Leber's Hereditary Optic Neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes. Genomics. 39:1997;8-18.
    • (1997) Genomics , vol.39 , pp. 8-18
    • Hofmann, S.1    Bezold, R.2    Jaksch, M.3    Obermaier-Kusser, B.4    Mertens, S.5    Kaufhold, P.6    Rabl, W.7
  • 7
    • 0028928397 scopus 로고
    • Phylogenetic analysis of the mitochondrial genomes from Leber Hereditary Optic Neuropathy pedigrees
    • Howell N., Kubacka I., Halvorson S., Howell B., McCullough D.A., Mackey D. Phylogenetic analysis of the mitochondrial genomes from Leber Hereditary Optic Neuropathy pedigrees. Genetics. 140:1995;285-302.
    • (1995) Genetics , vol.140 , pp. 285-302
    • Howell, N.1    Kubacka, I.2    Halvorson, S.3    Howell, B.4    McCullough, D.A.5    MacKey, D.6
  • 8
    • 0026036025 scopus 로고
    • Alternative simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy
    • Johns D.R., Berman J. Alternative simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. Biochem. Biophys. Res. Commun. 174:1991;1324-1330.
    • (1991) Biochem. Biophys. Res. Commun. , vol.174 , pp. 1324-1330
    • Johns, D.R.1    Berman, J.2
  • 9
    • 0026757115 scopus 로고
    • An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy
    • Johns D.R., Neufeld M.J., Park R.D. An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. Biochem. Biophys. Res. Commun. 187:1992;1551-1557.
    • (1992) Biochem. Biophys. Res. Commun. , vol.187 , pp. 1551-1557
    • Johns, D.R.1    Neufeld, M.J.2    Park, R.D.3
  • 10
    • 0027502505 scopus 로고
    • Leber's hereditary optic neuropathy: Clinical manifestations of the 14484 mutation
    • Johns D.R., Heher K.L., Miller N.R., Smith K.H. Leber's hereditary optic neuropathy: clinical manifestations of the 14484 mutation. Arch. Ophthalmol. 111:1993;459-498.
    • (1993) Arch. Ophthalmol. , vol.111 , pp. 459-498
    • Johns, D.R.1    Heher, K.L.2    Miller, N.R.3    Smith, K.H.4
  • 11
    • 0026746739 scopus 로고
    • A variant of Leber Hereditary Optic Neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology
    • Mackey D., Howell N. A variant of Leber Hereditary Optic Neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology. Am. J. Hum. Genet. 51:1992;1218-1228.
    • (1992) Am. J. Hum. Genet. , vol.51 , pp. 1218-1228
    • MacKey, D.1    Howell, N.2
  • 12
    • 0027977998 scopus 로고
    • Three subgroups of patients from the United Kingdom with Leber hereditary optic neuropathy
    • Mackey D.A. Three subgroups of patients from the United Kingdom with Leber hereditary optic neuropathy. Eye. 8:1994;431-436.
    • (1994) Eye , vol.8 , pp. 431-436
    • MacKey, D.A.1
  • 13
    • 0026717291 scopus 로고
    • Remission of Leber's hereditary optic neuropathy with idebenone
    • Mashima Y., Hiida Y., Oguchi Y. Remission of Leber's hereditary optic neuropathy with idebenone. Lancet. 340:1992;368-369.
    • (1992) Lancet , vol.340 , pp. 368-369
    • Mashima, Y.1    Hiida, Y.2    Oguchi, Y.3
  • 14
    • 0029027650 scopus 로고
    • Abnormal lactate after effort in healthy carriers of Leber's hereditary optic neuropathy
    • Montagna P., Plazzi G., Cortelli P. Abnormal lactate after effort in healthy carriers of Leber's hereditary optic neuropathy. J. Neurol. Neurosurg. Psychiatry. 58:1995;640-641.
    • (1995) J. Neurol. Neurosurg. Psychiatry , vol.58 , pp. 640-641
    • Montagna, P.1    Plazzi, G.2    Cortelli, P.3
  • 15
    • 0027180961 scopus 로고
    • Leber's hereditary optic neuropathy: New genetic considerations
    • Newman N.J. Leber's hereditary optic neuropathy: new genetic considerations. Arch. Neurol. 50:1993;540-548.
    • (1993) Arch. Neurol. , vol.50 , pp. 540-548
    • Newman, N.J.1
  • 16
    • 0026450675 scopus 로고
    • Benzodiazepine sensitivity in Leber's hereditary optic neuroretinopathy
    • Nikoskelainen E., Asola M., Kalimo H., Savontaus M.-L., Majander A. Benzodiazepine sensitivity in Leber's hereditary optic neuroretinopathy. Lancet. 340:1992;1223-1224.
    • (1992) Lancet , vol.340 , pp. 1223-1224
    • Nikoskelainen, E.1    Asola, M.2    Kalimo, H.3    Savontaus, M.-L.4    Majander, A.5
  • 18
  • 19
    • 0028949749 scopus 로고
    • The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation
    • Riordan-Eva P., Sanders M.D., Govan G.G., Sweeney M.G., Da Costa J., Harding A.E. The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain. 118:1995;319-337.
    • (1995) Brain , vol.118 , pp. 319-337
    • Riordan-Eva, P.1    Sanders, M.D.2    Govan, G.G.3    Sweeney, M.G.4    Da Costa, J.5    Harding, A.E.6
  • 20
    • 0028889912 scopus 로고
    • Adenosine triphosphate deficiency: A genre of optic neuropathy
    • Rizzo III J.F. Adenosine triphosphate deficiency: a genre of optic neuropathy. Neurology. 45:1995;11-16.
    • (1995) Neurology , vol.45 , pp. 11-16
    • Rizzo J.F. III1
  • 21
    • 0028095263 scopus 로고
    • MtDNA and the origin of Caucasians: Identification of ancient Caucasian-specific haplogroups, one of which is prone to a recurrent somatic duplication in the D-loop region
    • Torroni A., Lott M.T., Cabell M.F., Chen Y.-S., Lavergne L., Wallace D.C. mtDNA and the origin of Caucasians: identification of ancient Caucasian-specific haplogroups, one of which is prone to a recurrent somatic duplication in the D-loop region. Am. J. Hum. Genet. 55:1994;760-776.
    • (1994) Am. J. Hum. Genet. , vol.55 , pp. 760-776
    • Torroni, A.1    Lott, M.T.2    Cabell, M.F.3    Chen, Y.-S.4    Lavergne, L.5    Wallace, D.C.6
  • 22
    • 0029895877 scopus 로고    scopus 로고
    • Detection of the mtDNA 14484 mutation on an African-specific haplotype: Implications about its role in causing Leber hereditary optic neuropathy
    • Torroni A., Carelli V., Petrozzi M., Terracina M., Barboni P., Malpassi P., Wallace D.C., Scozzari R. Detection of the mtDNA 14484 mutation on an African-specific haplotype: implications about its role in causing Leber hereditary optic neuropathy. Am. J. Hum. Genet. 59:1996;248-252.
    • (1996) Am. J. Hum. Genet. , vol.59 , pp. 248-252
    • Torroni, A.1    Carelli, V.2    Petrozzi, M.3    Terracina, M.4    Barboni, P.5    Malpassi, P.6    Wallace, D.C.7    Scozzari, R.8
  • 23
    • 16944363113 scopus 로고    scopus 로고
    • Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber Hereditary Optic Neuropathy by increasing the penetrance of the primary mutations 11778 and 14484
    • Torroni A., Petrozzi M., D'Urbano L., Sellitto D., Zeviani M., Carrara T., Carducci C., Leuzzi V., Carelli V., Barboni P., De Negri A., Scozzari R. Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber Hereditary Optic Neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. Am. J. Hum. Genet. 60:1997;1107-1121.
    • (1997) Am. J. Hum. Genet. , vol.60 , pp. 1107-1121
    • Torroni, A.1    Petrozzi, M.2    D'Urbano, L.3    Sellitto, D.4    Zeviani, M.5    Carrara, T.6    Carducci, C.7    Leuzzi, V.8    Carelli, V.9    Barboni, P.10    De Negri, A.11    Scozzari, R.12
  • 24
    • 84975492602 scopus 로고    scopus 로고
    • High incidence of visual recovery among four Japanese patients with Leber's Hereditary Optic Neuropathy with the 14484 mutation
    • Yamada K., Mashima Y., Kigasawa K., Miyashita K., Wakakura M., Oguchi Y. High incidence of visual recovery among four Japanese patients with Leber's Hereditary Optic Neuropathy with the 14484 mutation. J. Neuro-Ophthalmol. 17:1997;103-107.
    • (1997) J. Neuro-Ophthalmol. , vol.17 , pp. 103-107
    • Yamada, K.1    Mashima, Y.2    Kigasawa, K.3    Miyashita, K.4    Wakakura, M.5    Oguchi, Y.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.