| 1 | MT-ND6
|
| Mouse mtDNA mutant model of Leber hereditary optic neuropathy.
|
| Lin CS, Sharpley MS, Fan W, Waymire KG, Sadun AA, Carelli V, Ross-Cisneros FN, Baciu P, Sung E, McManus MJ, Pan BX, Gil DW, Macgregor GR, Wallace DC.
|
| Proc Natl Acad Sci U S A. 2012
|
| 2 | LHON, MT-ND6
|
| Leber hereditary optic neuropathy mutations in the ND6 subunit of mitochondrial complex I affect ubiquinone reduction kinetics in a bacterial model of the enzyme.
|
| Pätsi J, Kervinen M, Finel M, Hassinen IE.
|
| Biochem J 409(1):129-37.PMID: 17894548 2008
|
| 3 | MT-ND6
|
| The coexistence of mitochondrial ND6 T14484C and 12S rRNA A1555G mutations in a Chinese family with Leber's hereditary optic neuropathy and hearing loss.
|
| Wei QP, Zhou X, Yang L, Sun YH, Zhou J, Li G, Jiang R, Lu F, Qu J, Guan MX.
|
| Biochem Biophys Res Commun 357(4):910-6. Epub 2007 Apr 16. 2007
|
| 4 | COX1, MT-ATP8, MT-CO2, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND6
|
| Origin and expansion of haplogroup H, the dominant human mitochondrial DNA lineage in West Eurasia: the Near Eastern and Caucasian perspective.
|
| Roostalu U, Kutuev I, Loogvali EL, Metspalu E, Tambets K, Reidla M, Khusnutdinova EK, Usanga E, Kivisild T, Villems R.
|
| Mol Biol Evol 24(2):436-48. Epub 2006 Nov 10. 2007
|
| 5 | MT-ND1, MT-ND5, MT-ND6
|
| Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy.
|
| Malfatti E, Bugiani M, Invernizzi F, de Souza CF, Farina L, Carrara F, Lamantea E, Antozzi C, Confalonieri P, Sanseverino MT, Giugliani R, Uziel G, Zeviani M.
|
| Brain 130(Pt 7):1894-904. Epub 2007 May 29.
2007
|
| 6 | LHON, MT-ND4, MT-ND6
|
| 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, Olivieri A, Mattiazzi M, Pallotti F, Carrara F, Zeviani M, Leuzzi V, Carducci C, Valle G, Simionati B, Mendieta L, Salomao S, Belfort R Jr, Sadun AA, Torroni A.
|
| Am J Hum Genet 78(4):564-74. Epub 2006 Jan 27. 2006
|
| 7 | MT-ND6
|
| Leber's hereditary optic neuropathy is associated with the mitochondrial ND6 T14484C mutation in three Chinese families.
|
| Sun YH, Wei QP, Zhou X, Qian Y, Zhou J, Lu F, Qu J, Guan MX.
|
| Biochem Biophys Res Commun 347(1):221-5. Epub 2006 Jun 21. 2006
|
| 8 | LHON, MT-ND6
|
| A novel mtDNA ND6 gene mutation associated with LHON in a Caucasian family.
|
| Zhadanov SI, Atamanov VV, Zhadanov NI, Oleinikov OV, Osipova LP, Schurr TG.
|
| Biochem Biophys Res Commun 332(4):1115-21. 2005
|
| 9 | MT-ND6, MTENC2
|
| Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.
|
| Ugalde C, Triepels RH, Coenen MJ, van den Heuvel LP, Smeets R, Uusimaa J, Briones P, Campistol J, Majamaa K, Smeitink JA, Nijtmans LG.
|
| Ann Neurol 54(5):665-9. 2003
|
| 10 | LHON, MT-ND6
|
| Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy.
|
| Valentino ML, Avoni P, Barboni P, Pallotti F, Rengo C, Torroni A, Bellan M, Baruzzi A, Carelli V.
|
| Ann Neurol 51(6):774-8. 2002
|
| 11 | MT-ND6
|
| The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy.
|
| Chinnery PF, Brown DT, Andrews RM, Singh-Kler R, Riordan-Eva P, Lindley J, Applegarth DA, Turnbull DM, Howell N.
|
| Brain 124(Pt 1):209-18. 2001
|
| 12 | LHOND, MT-ND6
|
| The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy.
|
| Chinnery PF, Brown DT, Andrews RM, Singh-Kler R, Riordan-Eva P, Lindley J, Applegarth DA, Turnbull DM, Howell N.
|
| Brain 124(Pt 1):209-18.
2001
|
| 13 | MAP6, MT-ATP8, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-TA, MT-TC, MTTS1
|
| Sequence and organization of the human mitochondrial genome.
|
| Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJ, Staden R, Young IG.
|
| Nature 290(5806):457-65. 1981
|