| 1 | MELAS, MT-ND5
|
| Clinical and Neuroimaging Features in Two Children with Mutations in the Mitochondrial ND5 Gene.
|
| Sonam K, Bindu PS, Taly AB, Govindaraju C, Gayathri N, Arvinda HR, Nagappa M, Sinha S, Khan NA, Govindaraj P, Thangaraj K.
|
| Neuropediatrics europediatrics. 2015 May 14. [Epub ahead of print]
2015
|
| 2 | MT-ND5, MTENC2
|
| Leigh Syndrome Caused by the MT-ND5 m.13513G>A Mutation: A Case Presenting with WPW-Like Conduction Defect, Cardiomyopathy, Hypertension and Hyponatraemia.
|
| Brecht M, Richardson M, Taranath A, Grist S, Thorburn D, Bratkovic D.
|
| JIMD Rep IMD Rep. 2015 Feb 15. [Epub ahead of print]
2015
|
| 3 | MT-ND5, MTLEMS
|
| Mitochondrial DNA profiling via genomic analysis in mesial temporal lobe epilepsy patients with hippocampal sclerosis.
|
| Gurses C, Azakli H, Alptekin A, Cakiris A, Abaci N, Arikan M, Kursun O, Gokyigit A, Ustek D.
|
| Gene 538(2):323-7. doi: 10.1016/j.gene.2014.01.030. Epub 2014 Jan 16. 2014
|
| 4 | MT-ND5
|
| MT-ND5 mutation causing exercise intolerance displays intercellular heteroplasmy and rapid shifts between generations.
|
| Sanaker PS, Bindoff LA.
|
| Hum Mutat 34(2):292-5. doi: 10.1002/humu.22238. Epub 2013 Jan 4.
2013
|
| 5 | LHON, MT-ND5
|
| Mitochondrial DNA mutation m.10680G > A is associated with Leber hereditary optic neuropathy in Chinese patients.
|
| Zhang AM, Jia X, Guo X, Zhang Q, Yao YG.
|
| J Transl Med 10:43. doi: 10.1186/1479-5876-10-43.
2012
|
| 6 | MT-ND5
|
| Mitochondrial ND5 12338T>C variant is associated with maternally inherited hypertrophic cardiomyopathy in a Chinese pedigree.
|
| Liu Z, Song Y, Gu S, He X, Zhu X, Shen Y, Wu B, Wang W, Li S, Jiang P, Lu J, Huang W, Yan Q.
|
| Gene 506(2):339-43. doi: 10.1016/j.gene.2012.06.071. Epub 2012 Jul 1.
2012
|
| 7 | LHON, MT-ND1, MT-ND5
|
| The MT-ND1 and MT-ND5 genes are mutational hotspots for Chinese families with clinical features of LHON but lacking the three primary mutations.
|
| Zou Y, Jia X, Zhang AM, Wang WZ, Li S, Guo X, Kong QP, Zhang Q, Yao YG.
|
| Biochem Biophys Res Commun 399(2):179-85. Epub 2010 Jul 17.PMID: 20643099 2010
|
| 8 | MT-ND5
|
| A novel mitochondrial ND5 (MTND5) gene mutation giving isolated exercise intolerance.
|
| Downham E, Winterthun S, Nakkestad HL, Hirth A, Halvorsen T, Taylor RW, Bindoff LA.
|
| Neuromuscul Disord 18(4):310-4.PMID: 18396045 2008
|
| 9 | MTENC2, MT-ND5
|
| The mitochondrial 13513G > A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff-Parkinson-White.
|
| Ruiter EM, Siers MH, van den Elzen C, van Engelen BG, Smeitink JA, Rodenburg RJ, Hol FA.
|
| Eur J Hum Genet 15(2):155-61. Epub 2006 Nov 15. 2007
|
| 10 | MT-ND5, MELAS
|
| Mitochondrial ND5 Gene Variation Associated with Encephalomyopathy and Mitochondrial ATP Consumption.
|
| McKenzie M, Liolitsa D, Akinshina N, Campanella M, Sisodiya S, Hargreaves I, Nirmalananthan N, Sweeney MG, Abou-Sleiman PM, Wood NW, Hanna MG, Duchen MR.
|
| J Biol Chem 282(51):36845-52. Epub 2007 Oct 16. 2007
|
| 11 | 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
|
| 12 | MELAS, MT-ND5, MT-ND4, MT-ND1
|
| Acquisition of the wobble modification in mitochondrial tRNALeu(CUN) bearing the G12300A mutation suppresses the MELAS molecular defect.
|
| Kirino Y, Yasukawa T, Marjavaara SK, Jacobs HT, Holt IJ, Watanabe K, Suzuki T.
|
| Hum Mol Genet 15(6):897-904. Epub 2006 Jan 30. 2006
|
| 13 | MT-ND5
|
| Mitochondrial ND5 mutations in idiopathic Parkinson's disease.
|
| Parker WD Jr, Parks JK.
|
| Biochem Biophys Res Commun 326(3):667-9. 2005
|
| 14 | MT-ND5, MNGIE
|
| ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy.
|
| Nishigaki Y, Marti R, Hirano M.
|
| Hum Mol Genet 13(1):91-101. Epub 2003 Nov 12. 2004
|
| 15 | MT-ND5
|
| Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?
|
| Liolitsa D, Rahman S, Benton S, Carr LJ, Hanna MG.
|
| Ann Neurol 53(1):128-32. 2003
|
| 16 | MTENC2, MT-ND5
|
| The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.
|
| Chol M, Lebon S, Benit P, Chretien D, de Lonlay P, Goldenberg A, Odent S, Hertz-Pannier L, Vincent-Delorme C, Cormier-Daire V, Rustin P, Rotig A, Munnich A.
|
| J Med Genet 40(3):188-91. 2003
|
| 17 | MELAS, MT-ND5
|
| A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome.
|
| Crimi M, Galbiati S, Moroni I, Bordoni A, Perini MP, Lamantea E, Sciacco M, Zeviani M, Biunno I, Moggio M, Scarlato G, Comi GP.
|
| Neurology 60(11):1857-61. 2003
|
| 18 | MT-ND5
|
| Leigh disease associated with a novel mitochondrial DNA ND5 mutation.
|
| Taylor RW, Morris AA, Hutchinson M, Turnbull DM.
|
| Eur J Hum Genet 10(2):141-4. 2002
|
| 19 | MT-ND1, MT-ND2, MT-ND5, MT-ND4, MT-ND4L, MT-ND3
|
| Reanalysis and revision of the Cambridge reference sequence for humanmitochondrial DNA.
|
| Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N.
|
| Nat Genet 23(2):147. No abstract available. 1999
|
| 20 | MT-ND1, MT-ND2, MT-ND3, MT-ND4L, MT-ND5, NDUFA10, NDUFA3, NDUFA7, NDUFA9, NDUFB10, NDUFB4, NDUFB5, NDUFB8, NDUFC2, NDUFS1, NDUFS7, NDUFS8, NDUFV2, NDUFV3
|
| cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed.
|
| Loeffen JL, et al.
|
| Biochem Biophys Res Commun 253(2):415-22. 1998
|
| 21 | MT-ND2, MT-ND5, LHON
|
| Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy.
|
| Brown MD, Voljavec AS, Lott MT, Torroni A, Yang CC, Wallace DC.
|
| Genetics 130(1):163-73. 1992
|
| 22 | MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5
|
| Molecular insight into the asymmetric distribution of pathogenetic humanmitochondrial DNA deletions.
|
| Johns DR, Cornblath DR.
|
| Biochem Biophys Res Commun 174(1):244-50. 1991
|
| 23 | MT-ND2, MT-ND1, MT-ND4L, MT-ND3, MT-ND4, MT-ND5
|
| Site-specific deletions of the mitochondrial genome in the Pearsonmarrow-pancreas syndrome.
|
| Rotig A, Cormier V, Koll F, Mize CE, Saudubray JM, Veerman A, Pearson HA,Munnich A.
|
| Genomics 10(2):502-4. 1991
|
| 24 | MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5
|
| Replication-competent human mitochondrial DNA lacking the heavy-strand promoter region.
|
| Moraes CT, Andreetta F, Bonilla E, Shanske S, DiMauro S, Schon EA.
|
| Mol Cell Biol 11(3):1631-7. 1991
|
| 25 | MT-ND1, MT-ND2, MT-ND5
|
| Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy.
|
| Johns DR, Berman J.
|
| Biochem Biophys Res Commun 174(3):1324-30. 1991
|
| 26 | 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
|
| 27 | MT-ND1, MT-ND4L, MT-ND5, MT-ND4, MT-ND3, MT-ND2
|
| Distinctive features of the 5'-terminal sequences of the human mitochondrialmRNAs.
|
| Montoya J, Ojala D, Attardi G.
|
| Nature 290(5806):465-70. 1981
|