| 1 | MT-ND1, WFSMT
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| The mitochondrial ND1 m.3337G>A mutation associated to multiple mitochondrial DNA deletions in a patient with Wolfram syndrome and cardiomyopathy.
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| Mezghani N, Mnif M, Mkaouar-Rebai E, Kallel N, Salem IH, Charfi N, Abid M, Fakhfakh F.
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| Biochem Biophys Res Commun 411(2):247-52. Epub 2011 Jun 23.
2011
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| 2 | MT-ND1
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| A mutation threshold distinguishes the antitumorigenic effects of the mitochondrial gene MTND1, an oncojanus function.
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| Gasparre G, Kurelac I, Capristo M, Iommarini L, Ghelli A, Ceccarelli C, Nicoletti G, Nanni P, De Giovanni C, Scotlandi K, Betts CM, Carelli V, Lollini PL, Romeo G, Rugolo M, Porcelli AM.
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| Cancer Res 71(19):6220-9. doi: 10.1158/0008-5472.CAN-11-1042. Epub 2011 Aug 18.
2011
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| 3 | LHON, MT-ND1
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| Very low penetrance of Leber's hereditary optic neuropathy in five Han Chinese families carrying the ND1 G3460A mutation.
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| Tong Y, Sun YH, Zhou X, Zhao F, Mao Y, Wei QP, Yang L, Qu J, Guan MX.
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| Mol Genet Metab 99(4):417-24. Epub 2010 Jan 6.
2010
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| 4 | LHON, MT-ND1, MT-ND5
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| The MT-ND1 and MT-ND5 genes are mutational hotspots for Chinese families with clinical features of LHON but lacking the three primary mutations.
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| Zou Y, Jia X, Zhang AM, Wang WZ, Li S, Guo X, Kong QP, Zhang Q, Yao YG.
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| Biochem Biophys Res Commun 399(2):179-85. Epub 2010 Jul 17.PMID: 20643099 2010
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| 5 | LHON, MT-ND1
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| Leber's hereditary optic neuropathy is associated with mitochondrial ND1 T3394C mutation.
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| Liang M, Guan M, Zhao F, Zhou X, Yuan M, Tong Y, Yang L, Wei QP, Sun YH, Lu F, Qu J, Guan MX.
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| Biochem Biophys Res Commun 383(3):286-92. Epub 2009 Mar 24.
2009
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| 6 | LHON, MT-ND1
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| Confirmation of the mitochondrial ND1 gene mutation G3635A as a primary LHON mutation.
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| Yang J, Zhu Y, Tong Y, Chen L, Liu L, Zhang Z, Wang X, Huang D, Qiu W, Zhuang S, Ma X.
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| Biochem Biophys Res Commun 386(1):50-4. Epub 2009 Jun 2.
2009
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| 7 | LHON, MT-ND1
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| Leber's hereditary optic neuropathy is associated with mitochondrial ND6 T14502C mutation.
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| Zhao F, Guan M, Zhou X, Yuan M, Liang M, Liu Q, Liu Y, Zhang Y, Yang L, Tong Y, Wei QP, Sun YH, Qu J, Guan MX.
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| Biochem Biophys Res Commun iochem Biophys Res Commun. 2009 Sep 2. [Epub ahead of print]
2009
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| 8 | LHON, MT-ND1
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| Novel A14841G mutation is associated with high penetrance of LHON/C4171A family.
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| Yang J, Zhu Y, Chen L, Zhang H, Tong Y, Huang D, Zhang Z, Chen S, Han X, Ma X.
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| Biochem Biophys Res Commun 386(4):693-6. Epub 2009 Jun 23.PMID: 19555656 2009
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| 9 | MT-ND1
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| Maternally inherited hypertension is associated with the mitochondrial tRNA(Ile) A4295G mutation in a Chinese family.
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| Li Z, Liu Y, Yang L, Wang S, Guan MX.
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| Biochem Biophys Res Commun 367(4):906-11. Epub 2008 Jan 3. 2008
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| 10 | MELAS, MT-ND1
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| The role of complex I genes in MELAS: a novel heteroplasmic mutation 3380G>A in ND1 of mtDNA.
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| Horváth R, Reilmann R, Holinski-Feder E, Ringelstein EB, Klopstock T.
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| Neuromuscul Disord 18(7):553-6. Epub 2008 Jun 30.
2008
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| 11 | COX1, MT-ATP8, MT-CO2, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND6
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| Origin and expansion of haplogroup H, the dominant human mitochondrial DNA lineage in West Eurasia: the Near Eastern and Caucasian perspective.
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| Roostalu U, Kutuev I, Loogvali EL, Metspalu E, Tambets K, Reidla M, Khusnutdinova EK, Usanga E, Kivisild T, Villems R.
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| Mol Biol Evol 24(2):436-48. Epub 2006 Nov 10. 2007
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| 12 | MT-ND1, MT-ND5, MT-ND6
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| Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy.
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| 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.
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| Brain 130(Pt 7):1894-904. Epub 2007 May 29.
2007
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| 13 | MELAS, MT-ND5, MT-ND4, MT-ND1
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| Acquisition of the wobble modification in mitochondrial tRNALeu(CUN) bearing the G12300A mutation suppresses the MELAS molecular defect.
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| Kirino Y, Yasukawa T, Marjavaara SK, Jacobs HT, Holt IJ, Watanabe K, Suzuki T.
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| Hum Mol Genet 15(6):897-904. Epub 2006 Jan 30. 2006
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| 14 | MELAS, MT-ND1, NDUFV3
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| The MELAS mutations 3946 and 3949 perturb the critical structure in a conserved loop of the ND1 subunit of mitochondrial complex I.
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| Kervinen M, Hinttala R, Helander HM, Kurki S, Uusimaa J, Finel M, Majamaa K, Hassinen IE.
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| Hum Mol Genet 15(17):2543-52. Epub 2006 Jul 18. 2006
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| 15 | SWS, LIFR, MT-ND1
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| Mitochondrial dysfunction in Stuve-Wiedemann syndrome in a patient carrying an ND1 gene mutation.
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| Morava E, Hamel B, Hol F, Rodenburg R, Smeitink J.
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| Am J Med Genet A 140(20):2248-50. No abstract available. 2006
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| 16 | LHON, MELAS, MT-ND1
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| LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation.
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| Blakely EL, de Silva R, King A, Schwarzer V, Harrower T, Dawidek G, Turnbull DM, Taylor RW.
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| Eur J Hum Genet 13(5):623-7. 2005
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| 17 | MELAS, MT-ND1
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| A novel mutation in the mitochondrial tRNA Asn gene associated with a lethal disease.
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| Coulbault L, Herlicoviez D, Chapon F, Read MH, Penniello MJ, Reynier P, Fayet G, Lombes A, Jauzac P, Allouche S.
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| Biochem Biophys Res Commun 329(3):1152-4. 2005
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| 18 | MT-ND1, MELAS
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| Clinical and molecular features of encephalomyopathy due to the A3302G mutation in the mitochondrial tRNA(Leu(UUR)) gene.
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| Hutchison WM, Thyagarajan D, Poulton J, Marchington DR, Kirby DM, Manji SS, Dahl HH.
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| Arch Neurol 62(12):1920-3. 2005
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| 19 | MT-ND1, MT-ND3, MT-ND4, MT-ND2
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| Mitochondrial DNA polymorphisms as risk factors for Parkinson's disease and Parkinson's disease dementia.
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| Autere J, Moilanen JS, Finnila S, Soininen H, Mannermaa A, Hartikainen P, Hallikainen M, Majamaa K.
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| Hum Genet 115(1):29-35. Epub 2004 Apr 24. 2004
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| 20 | MELAS, MT-ND1
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| Mutations of the mitochondrial ND1 gene as a cause of MELAS.
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| Kirby DM, McFarland R, Ohtake A, Dunning C, Ryan MT, Wilson C, Ketteridge D, Turnbull DM, Thorburn DR, Taylor RW.
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| J Med Genet 41(10):784-9. No abstract available. 2004
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| 21 | MT-ND1, MT-ND2
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| Novel mitochondrial DNA mutations in Parkinson's disease.
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| Richter G, Sonnenschein A, Grunewald T, Reichmann H, Janetzky B.
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| J Neural Transm 109(5-6):721-9. 2002
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| 22 | MT-ND1
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| Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathy.
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| Musumeci O, Andreu AL, Shanske S, Bresolin N, Comi GP, Rothstein R, Schon EA, DiMauro S.
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| Am J Hum Genet 66(6):1900-4. 2000
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| 23 | MT-ND1, MT-ND2, MT-ND5, MT-ND4, MT-ND4L, MT-ND3
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| Reanalysis and revision of the Cambridge reference sequence for humanmitochondrial DNA.
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| Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N.
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| Nat Genet 23(2):147. No abstract available. 1999
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| 24 | MT-ND1
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| Mitochondrial DNA point mutations detected in four cases of sudden infant death syndrome.
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| Opdal SH, Rognum TO, Torgersen H, Vege A.
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| Acta Paediatr 88(9):957-60. 1999
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| 25 | MT-ND1, MT-ND2, MT-ND3, MT-ND4L, MT-ND5, NDUFA10, NDUFA3, NDUFA7, NDUFA9, NDUFB10, NDUFB4, NDUFB5, NDUFB8, NDUFC2, NDUFS1, NDUFS7, NDUFS8, NDUFV2, NDUFV3
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| cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed.
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| Loeffen JL, et al.
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| Biochem Biophys Res Commun 253(2):415-22. 1998
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| 26 | MT-ND1, MT-ND4L
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| Somatic mutations of the mitochondrial genome in human colorectal tumours.
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| Polyak K, Li Y, Zhu H, Lengauer C, Willson JK, Markowitz SD, Trush MA, Kinzler KW, Vogelstein B.
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| Nat Genet 20(3):291-3. 1998
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| 27 | MT-ND1
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| Leber's hereditary optic neuropathy. Clinical manifestations of the 3460 mutation.
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| Johns DR, Smith KH, Miller NR.
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| Arch Ophthalmol 110(11):1577-81. 1992
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| 28 | MT-ND1, MT-ND4
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| Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 andthe ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON).
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| Majander A, Huoponen K, Savontaus ML, Nikoskelainen E, Wikstrom M.
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| FEBS Lett 292(1-2):289-92. 1991
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| 29 | MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5
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| Molecular insight into the asymmetric distribution of pathogenetic humanmitochondrial DNA deletions.
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| Johns DR, Cornblath DR.
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| Biochem Biophys Res Commun 174(1):244-50. 1991
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| 30 | MT-ND2, MT-ND1, MT-ND4L, MT-ND3, MT-ND4, MT-ND5
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| Site-specific deletions of the mitochondrial genome in the Pearsonmarrow-pancreas syndrome.
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| Rotig A, Cormier V, Koll F, Mize CE, Saudubray JM, Veerman A, Pearson HA,Munnich A.
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| Genomics 10(2):502-4. 1991
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| 31 | MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5
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| Replication-competent human mitochondrial DNA lacking the heavy-strand promoter region.
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| Moraes CT, Andreetta F, Bonilla E, Shanske S, DiMauro S, Schon EA.
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| Mol Cell Biol 11(3):1631-7. 1991
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| 32 | MT-ND1, MT-ND2, MT-ND5
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| Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy.
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| Johns DR, Berman J.
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| Biochem Biophys Res Commun 174(3):1324-30. 1991
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| 33 | MT-ND1
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| Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees.
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| Howell N, Bindoff LA, McCullough DA, Kubacka I, Poulton J, Mackey D, Taylor L, Turnbull DM.
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| Am J Hum Genet 49(5):939-50. 1991
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| 34 | MT-ND1
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| Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation.
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| Howell N, Kubacka I, Xu M, McCullough DA.
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| Am J Hum Genet 48(5):935-42. 1991
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| 35 | MAP6, MT-ATP8, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-TA, MT-TC, MTTS1
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| Sequence and organization of the human mitochondrial genome.
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| 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.
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| Nature 290(5806):457-65. 1981
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| 36 | MT-ND1, MT-ND4L, MT-ND5, MT-ND4, MT-ND3, MT-ND2
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| Distinctive features of the 5'-terminal sequences of the human mitochondrialmRNAs.
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| Montoya J, Ojala D, Attardi G.
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| Nature 290(5806):465-70. 1981
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