메뉴 건너뛰기




Volumn 139, Issue 3, 2016, Pages e17-

Parsing the differences in affected with LHON: Genetic versus environmental triggers of disease conversion

(19)  Carelli, Valerio a,b   D'Adamo, Pio c,d   Valentino, Maria Lucia a,b   La Morgia, Chiara a,b   Ross Cisneros, Fred N e   Caporali, Leonardo a   Maresca, Alessandra a,b   Polosa, Paola Loguercio f   Barboni, Piero g   De Negri, Annamaria h   Sadun, Federico i   Karanjia, Rustum j   Salomao, Solange R k   Berezovsky, Adriana k   Chicani, Filipe k   Moraes, Milton l   Filho, Milton Moraes l   Belfort, Rubens k   Sadun, Alfredo A e,j  


Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

EID: 84964650716     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awv339     Document Type: Letter
Times cited : (51)

References (31)
  • 3
    • 84964674962 scopus 로고    scopus 로고
    • Mitochondrial DNA copy number differentiates the Leber's hereditary optic neuropathy affected individuals from the unaffected mutation carriers
    • Advance Access published on July 24
    • Bianco A, Martínez-Romero I, Bisceglia L, D'Agruma L, Favia P, Ruiz-Pesini E, et al. Mitochondrial DNA copy number differentiates the Leber's hereditary optic neuropathy affected individuals from the unaffected mutation carriers. Brain 2015. Advance Access published on July 24, 2015, doi: 10.1093/brain/awv216.
    • (2015) Brain 2015
    • Bianco, A.1    Martínez-Romero, I.2    Bisceglia, L.3    D'Agruma, L.4    Favia, P.5    Ruiz-Pesini, E.6
  • 4
    • 33645344999 scopus 로고    scopus 로고
    • Haplogroup effects and recombination of mitochondrial DNA: Novel clues from the analysis of Leber hereditary optic neuropathy pedigrees
    • Carelli V, Achilli A, Valentino ML, Rengo C, Semino O, Pala M, et al. Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees. Am J Hum Genet 2006;78:564-74.
    • (2006) Am J Hum Genet , vol.78 , pp. 564-574
    • Carelli, V.1    Achilli, A.2    Valentino, M.L.3    Rengo, C.4    Semino, O.5    Pala, M.6
  • 5
    • 33846018053 scopus 로고    scopus 로고
    • Grand rounds: Could occupational exposure to n-hexane and other solvents precipitate visual failure in leber hereditary optic neuropathy?
    • Carelli V, Franceschini F, Venturi S, Barboni P, Savini G, Barbieri G, et al. Grand rounds: could occupational exposure to n-hexane and other solvents precipitate visual failure in leber hereditary optic neuropathy? Environ Health Perspect 2007;115:113-15.
    • (2007) Environ Health Perspect , vol.115 , pp. 113-115
    • Carelli, V.1    Franceschini, F.2    Venturi, S.3    Barboni, P.4    Savini, G.5    Barbieri, G.6
  • 6
    • 0037406049 scopus 로고    scopus 로고
    • Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction
    • Carelli V, Giordano C, d'Amati G. Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction. Trends Genet 2003;19:257-62.
    • (2003) Trends Genet , vol.19 , pp. 257-262
    • Carelli, V.1    Giordano, C.2    D'Amati, G.3
  • 8
    • 0842281697 scopus 로고    scopus 로고
    • Mitochondrial dysfunction as a cause of optic neuropathies
    • Carelli V, Ross-Cisneros FN, Sadun AA. Mitochondrial dysfunction as a cause of optic neuropathies. Prog Ret Eye Res 2004;23:53-89.
    • (2004) Prog Ret Eye Res , vol.23 , pp. 53-89
    • Carelli, V.1    Ross-Cisneros, F.N.2    Sadun, A.A.3
  • 9
    • 0036182712 scopus 로고    scopus 로고
    • Optic nerve degeneration and mitochondrial dysfunction: Genetic and acquired optic neuropathies
    • Carelli V, Ross-Cisneros FN, Sadun AA. Optic nerve degeneration and mitochondrial dysfunction: genetic and acquired optic neuropathies. Neurochem Int 2002;40:573-84.
    • (2002) Neurochem Int , vol.40 , pp. 573-584
    • Carelli, V.1    Ross-Cisneros, F.N.2    Sadun, A.A.3
  • 10
  • 11
    • 84990960908 scopus 로고    scopus 로고
    • Leber's hereditary optic neuropathy with late disease onset: Clinical and molecular characteristics of 20 patients
    • Dimitriadis K, Leonhardt M, Yu-Wai-Man P, Kirkman MA, Korsten A, De Coo IF, et al. Leber's hereditary optic neuropathy with late disease onset: clinical and molecular characteristics of 20 patients. Orphanet J Rare Dis 2014;9:158.
    • (2014) Orphanet J Rare Dis , vol.9 , pp. 158
    • Dimitriadis, K.1    Leonhardt, M.2    Yu-Wai-Man, P.3    Kirkman, M.A.4    Korsten, A.5    De Coo, I.F.6
  • 12
    • 70949088600 scopus 로고    scopus 로고
    • The background of mitochondrial DNA haplogroup J increases the sensitivity of Leber's hereditary optic neuropathy cells to 2, 5-hexanedione toxicity
    • Ghelli A, Porcelli AM, Zanna C, Vidoni S, Mattioli S, Barbieri A, et al. The background of mitochondrial DNA haplogroup J increases the sensitivity of Leber's hereditary optic neuropathy cells to 2, 5-hexanedione toxicity. PLoS One 2009;4:e7922.
    • (2009) PLoS One , vol.4 , pp. e7922
    • Ghelli, A.1    Porcelli, A.M.2    Zanna, C.3    Vidoni, S.4    Mattioli, S.5    Barbieri, A.6
  • 13
    • 84893842173 scopus 로고    scopus 로고
    • Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy
    • Giordano C, Iommarini L, Giordano L, Maresca A, Pisano A, Valentino ML, et al. Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy. Brain 2014;137:335-53.
    • (2014) Brain , vol.137 , pp. 335-353
    • Giordano, C.1    Iommarini, L.2    Giordano, L.3    Maresca, A.4    Pisano, A.5    Valentino, M.L.6
  • 14
    • 78650693389 scopus 로고    scopus 로고
    • Oestrogens ameliorate mitochondrial dysfunction in Leber's hereditary optic neuropathy
    • Giordano C, Montopoli M, Perli E, Orlandi M, Fantin M, Ross-Cisneros FN, et al. Oestrogens ameliorate mitochondrial dysfunction in Leber's hereditary optic neuropathy. Brain 2011;134:220-34.
    • (2011) Brain , vol.134 , pp. 220-234
    • Giordano, C.1    Montopoli, M.2    Perli, E.3    Orlandi, M.4    Fantin, M.5    Ross-Cisneros, F.N.6
  • 15
    • 84997771399 scopus 로고    scopus 로고
    • Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways
    • in press
    • Giordano L, Deceglie S, d'Adamo P, Valentino ML, La Morgia C, Fracasso F, et al. Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways. Cell Death Dis 2015; in press.
    • (2015) Cell Death Dis
    • Giordano, L.1    Deceglie, S.2    D'Adamo, P.3    Valentino, M.L.4    La Morgia, C.5    Fracasso, F.6
  • 17
    • 34547796899 scopus 로고    scopus 로고
    • Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background
    • Hudson G, Carelli V, Spruijt L, Gerards M, Mowbray C, Achilli A, et al. Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. Am J Hum Genet 2007;81:228-33.
    • (2007) Am J Hum Genet , vol.81 , pp. 228-233
    • Hudson, G.1    Carelli, V.2    Spruijt, L.3    Gerards, M.4    Mowbray, C.5    Achilli, A.6
  • 19
    • 77957039148 scopus 로고    scopus 로고
    • Melanopsin retinal ganglion cells are resistant to neurodegeneration in mitochondrial optic neuropathies
    • La Morgia C, Ross-Cisneros FN, Sadun AA, Hannibal J, Munarini A, Mantovani V, et al. Melanopsin retinal ganglion cells are resistant to neurodegeneration in mitochondrial optic neuropathies. Brain 2010;133:2426-38.
    • (2010) Brain , vol.133 , pp. 2426-2438
    • La Morgia, C.1    Ross-Cisneros, F.N.2    Sadun, A.A.3    Hannibal, J.4    Munarini, A.5    Mantovani, V.6
  • 20
    • 23744471642 scopus 로고    scopus 로고
    • Erythromycin as a potential precipitating agent in the onset of Leber's hereditary optic neuropathy
    • Luca CC, Lam BL, Moraes CT. Erythromycin as a potential precipitating agent in the onset of Leber's hereditary optic neuropathy. Mitochondrion 2004;4:31-6.
    • (2004) Mitochondrion , vol.4 , pp. 31-36
    • Luca, C.C.1    Lam, B.L.2    Moraes, C.T.3
  • 21
    • 0038394378 scopus 로고    scopus 로고
    • Leber's hereditary optic neuropathy triggered by antiretroviral therapy for human immunodeficiency virus
    • Mackey DA, Fingert JH, Luzhansky JZ, McCluskey PJ, Howell N, Hall AJ, et al. Leber's hereditary optic neuropathy triggered by antiretroviral therapy for human immunodeficiency virus. Eye (Lond) 2003;17:312-17.
    • (2003) Eye (Lond) , vol.17 , pp. 312-317
    • Mackey, D.A.1    Fingert, J.H.2    Luzhansky, J.Z.3    McCluskey, P.J.4    Howell, N.5    Hall, A.J.6
  • 22
    • 0032799751 scopus 로고    scopus 로고
    • Smoking disturbs mitochondrial respiratory chain function and enhances lipid peroxidation on human circulating lymphocytes
    • Miró O, Alonso JR, Jarreta D, Casademont J, Urbano-Márquez A, Cardellach F. Smoking disturbs mitochondrial respiratory chain function and enhances lipid peroxidation on human circulating lymphocytes. Carcinogenesis 1999;20:1331-6.
    • (1999) Carcinogenesis , vol.20 , pp. 1331-1336
    • Miró, O.1    Alonso, J.R.2    Jarreta, D.3    Casademont, J.4    Urbano-Márquez, A.5    Cardellach, F.6
  • 23
    • 71549148762 scopus 로고    scopus 로고
    • Leber hereditary optic neuropathy: Bad habits, bad vision?
    • Newman NJ. Leber hereditary optic neuropathy: bad habits, bad vision? Brain 2009;132:2306-8.
    • (2009) Brain , vol.132 , pp. 2306-2308
    • Newman, N.J.1
  • 24
    • 85007508481 scopus 로고    scopus 로고
    • Effects of tobacco smoking during pregnancy on oxidative stress in the umbilical cord and mononuclear blood cells of neonates
    • Rua Ede A, Porto ML, Ramos JP, Nogueira BV, Meyrelles SS, Vasquez EC, et al. Effects of tobacco smoking during pregnancy on oxidative stress in the umbilical cord and mononuclear blood cells of neonates. J Biomed Sci 2014;21:105.
    • (2014) J Biomed Sci , vol.21 , pp. 105
    • Rua Ede, A.1    Porto, M.L.2    Ramos, J.P.3    Nogueira, B.V.4    Meyrelles, S.S.5    Vasquez, E.C.6
  • 25
    • 0032443810 scopus 로고    scopus 로고
    • Acquired mitochondrial impairment as a cause of optic nerve disease
    • Sadun A. Acquired mitochondrial impairment as a cause of optic nerve disease. Trans Am Ophthalmol Soc 1998;96:881-923.
    • (1998) Trans Am Ophthalmol Soc , vol.96 , pp. 881-923
    • Sadun, A.1
  • 26
    • 0042850443 scopus 로고    scopus 로고
    • Extensive investigation of a large Brazilian pedigree of 11778/haplogroup J Leber hereditary optic neuropathy
    • Sadun AA, Carelli V, Salomao SR, Berezovsky A, Quiros PA, Sadun F, et al. Extensive investigation of a large Brazilian pedigree of 11778/haplogroup J Leber hereditary optic neuropathy. Am J Ophthalmol 2003;136:231-8.
    • (2003) Am J Ophthalmol , vol.136 , pp. 231-238
    • Sadun, A.A.1    Carelli, V.2    Salomao, S.R.3    Berezovsky, A.4    Quiros, P.A.5    Sadun, F.6
  • 28
    • 77954644769 scopus 로고    scopus 로고
    • Antituberculosis medication as a possible epigenetic factor of Leber's hereditary optic neuropathy
    • Seo JH, Hwang JM, Park SS. Antituberculosis medication as a possible epigenetic factor of Leber's hereditary optic neuropathy. Clin Experiment Ophthalmol 2010;38:363-6.
    • (2010) Clin Experiment Ophthalmol , vol.38 , pp. 363-366
    • Seo, J.H.1    Hwang, J.M.2    Park, S.S.3
  • 31
    • 79551638162 scopus 로고    scopus 로고
    • Mitochondrial optic neuropathies - Disease mechanisms and therapeutic strategies
    • Yu-Wai-Man P, Griffiths PG, Chinnery PF. Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies. Prog Retin Eye Res 2011;30:81-114.
    • (2011) Prog Retin Eye Res , vol.30 , pp. 81-114
    • Yu-Wai-Man, P.1    Griffiths, P.G.2    Chinnery, P.F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.