Sequence and organization of the human mitochondrial genome.Anderson S., Bankier A.T., Barrell B.G., de Bruijn M.H.L., Coulson A.R., Drouin J., Eperon I.C., Nierlich D.P., Roe B.A.[...], Young I.G.View abstractCited forNUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]CategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCNature 290:457-465 (1981)Cited in15
Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs.Horai S., Hayasaka K., Kondo R., Tsugane K., Takahata N.View abstractCited forNUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT VAL-14TissuePlacentaCategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCProc. Natl. Acad. Sci. U.S.A. 92:532-536 (1995)Cited in5918
Mitochondrial genome variation and the origin of modern humans.Ingman M., Kaessmann H., Paeaebo S., Gyllensten U.View abstractCited forNUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS TYR-90; ALA-112 AND LEU-193CategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCNature 408:708-713 (2000)Cited in1287
Major genomic mitochondrial lineages delineate early human expansions.Maca-Meyer N., Gonzalez A.M., Larruga J.M., Flores C., Cabrera V.M.View abstractCited forNUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS TYR-90; ALA-112 AND THR-204CategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCBMC Genet. 2:13-13 (2001)Cited in363
Mitochondrial genome diversity of native Americans supports a single early entry of founder populations into America.Silva W.A. Jr., Bonatto S.L., Holanda A.J., Ribeiro-Dos-Santos A.K., Paixao B.M., Goldman G.H., Abe-Sandes K., Rodriguez-Delfin L., Barbosa M.[...], Zago M.A.View abstractCited forNUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS THR-80; TYR-90 AND ALA-112CategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCAm. J. Hum. Genet. 71:187-192 (2002)Cited in332
Mitochondrial DNA transit between West Asia and North Africa inferred from U6 phylogeography.Maca-Meyer N., Gonzalez A.M., Pestano J., Flores C., Larruga J.M., Cabrera V.M.View abstractCited forNUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS VAL-14 AND ALA-112CategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCBMC Genet. 4:15-15 (2003)Cited in121
Mitochondrial genome variation and evolutionary history of Australian and New Guinean aborigines.Ingman M., Gyllensten U.View abstractCited forNUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ALA-112 AND LEU-193CategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCGenome Res. 13:1600-1606 (2003)Cited in1187
Lineage-specific selection in human mtDNA: lack of polymorphisms in a segment of MTND5 gene in haplogroup J.Moilanen J.S., Finnila S., Majamaa K.View abstractCited forNUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS THR-11; THR-60; ALA-112 AND ALA-133CategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCMol. Biol. Evol. 20:2132-2142 (2003)Cited in1187
Natural selection shaped regional mtDNA variation in humans.Mishmar D., Ruiz-Pesini E., Golik P., Macaulay V., Clark A.G., Hosseini S., Brandon M., Easley K., Chen E.[...], Wallace D.C.View abstractCited forNUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS THR-60; TYR-90; ALA-112; LEU-117 AND THR-192CategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCProc. Natl. Acad. Sci. U.S.A. 100:171-176 (2003)Cited in199+
Phylogeny of east Asian mitochondrial DNA lineages inferred from complete sequences.Kong Q.-P., Yao Y.-G., Sun C., Bandelt H.-J., Zhu C.-L., Zhang Y.-P.View abstractCited forNUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS SER-16; PRO-37; TYR-90; ALA-112; ALA-178; LEU-182 AND THR-204CategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCAm. J. Hum. Genet. 73:671-676 (2003)Cited in199+
The molecular dissection of mtDNA haplogroup H confirms that the Franco- Cantabrian glacial refuge was a major source for the European gene pool.Achilli A., Rengo C., Magri C., Battaglia V., Olivieri A., Scozzari R., Cruciani F., Zeviani M., Briem E.[...], Torroni A.View abstractCited forNUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS THR-11 AND ALA-112CategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCAm. J. Hum. Genet. 75:910-918 (2004)Cited in152
Phylogeny of mitochondrial DNA macrohaplogroup N in India, based on complete sequencing: implications for the peopling of South Asia.Palanichamy M.G., Sun C., Agrawal S., Bandelt H.-J., Kong Q.-P., Khan F., Wang C.Y., Chaudhuri T.K., Palla V., Zhang Y.-P.View abstractCited forNUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS THR-7; THR-11; ILE-53; THR-60; ALA-112; VAL-121 AND ILE-213CategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCAm. J. Hum. Genet. 75:966-978 (2004)Cited in199+
Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians.Coble M.D., Just R.S., O'Callaghan J.E., Letmanyi I.H., Peterson C.T., Irwin J.A., Parsons T.J.View abstractCited forNUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS THR-11; THR-60; ALA-112 AND VAL-192CategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCInt. J. Legal Med. 118:137-146 (2004)Cited in1199+
Mitochondrial DNA diversity in indigenous populations of the southern extent of Siberia, and the origins of native american haplogroups.Starikovskaya E.B., Sukernik R.I., Derbeneva O.A., Volodko N.V., Ruiz-Pesini E., Torroni A., Brown M.D., Lott M.T., Hosseini S.H.[...], Wallace D.C.View abstractCited forNUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS TYR-90 AND ALA-112CategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCAnn. Hum. Genet. 69:67-89 (2005)Cited in144
Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA.Castagna A.E., Addis J., McInnes R.R., Clarke J.T., Ashby P., Blaser S., Robinson B.H.View abstractCited forINVOLVEMENT IN LS, VARIANT LS PRO-220CategoriesSequences, Disease & VariantsSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCAm. J. Med. Genet. A 143A:808-816 (2007)Cited in1
Initial characterization of the human central proteome.Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.View abstractCited forIDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]CategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCBMC Syst. Biol. 5:17-17 (2011)Cited in99+99+
Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene.Burrage L.C., Tang S., Wang J., Donti T.R., Walkiewicz M., Luchak J.M., Chen L.C., Schmitt E.S., Niu Z.[...], Scaglia F.View abstractCited forINVOLVEMENT IN MLASA3, VARIANT MLASA3 ASN-148CategoriesSequences, Disease & VariantsSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCMol. Genet. Metab. 113:207-212 (2014)Cited in1
N-terminome analysis of the human mitochondrial proteome.Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D., Lane L., Bairoch A., Van Dorsselaer A., Carapito C.View abstractCited forIDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]CategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCProteomics 15:2519-2524 (2015)Cited in99+99+
The 7q11.23 protein DNAJC30 interacts with ATP synthase and links mitochondria to brain development.Tebbenkamp A.T.N., Varela L., Choi J., Paredes M.I., Giani A.M., Song J.E., Sestan-Pesa M., Franjic D., Sousa A.M.M.[...], Sestan N.View abstractCited forINTERACTION WITH DNAJC30CategoriesInteractionSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCCell 0:0-0 (2018)Cited in4Mapped to5
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.Wallace D.C., Singh G., Lott M.T., Hodge J.A., Schurr T.G., Lezza A.M., Elsas L.J. II, Nikoskelainen E.K.View abstractCited forVARIANTS ALA-59 AND ILE-213CategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCScience 242:1427-1430 (1988)Cited in2
A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.Holt I.J., Harding A.E., Petty R.K., Morgan-Hughes J.A.View abstractCited forVARIANT NARP ARG-156CategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCAm. J. Hum. Genet. 46:428-433 (1990)Cited in1
Normal variants of human mitochondrial DNA and translation products: the building of a reference data base.Marzuki S., Noer A.S., Lertrit P., Thyagarajan D., Kapsa R., Utthanaphol P., Byrne E.View abstractCited forVARIANTS SER-33; ALA-59; TYR-61; TYR-90; ALA-112; THR-155; ILE-213 AND GLY-219CategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCHum. Genet. 88:139-145 (1991)Cited in13
A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome.de Vries D.D., van Engelen B.G.M., Gabreels F.J.M., Ruitenbeek W., van Oost B.A.View abstractCited forVARIANT LS PRO-156CategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCAnn. Neurol. 34:410-412 (1993)Cited in1
A mitochondrial mutation at nt 9101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with Leber hereditary optic neuroretinopathy.Lamminen T., Majander A., Juvonen V., Wikstroem M., Aula P., Nikoskelainen E., Savontaus M.-L.Cited forVARIANT LHON THR-192CategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCAm. J. Hum. Genet. 56:1238-1240 (1995)Cited in1
A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis.Thyagarajan D., Shanske S., Vazquez-Memije M., De Vivo D.C., Dimauro S.View abstractCited forVARIANT MIBSN PRO-217CategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCAnn. Neurol. 38:468-472 (1995)Cited in1