2006
The Role of Selection in the Evolution of Human Mitochondrial Genomes
Kivisild T, Shen P, Wall DP, Do B, Sung R, Davis K, Passarino G, Underhill PA, Scharfe C, Torroni A, Scozzari R, Modiano D, Coppa A, de Knijff P, Feldman M, Cavalli-Sforza LL, Oefner PJ. The Role of Selection in the Evolution of Human Mitochondrial Genomes. Genetics 2006, 172: 373-387. PMID: 16172508, PMCID: PMC1456165, DOI: 10.1534/genetics.105.043901.Peer-Reviewed Original ResearchConceptsHuman mitochondrial genomeMitochondrial genomeNegative Tajima's D valuesMutation rateHeavy strand DNAMammalian mitochondrial DNATajima's D valuesRole of selectionAmino acid replacementsNonsynonymous base substitutionsHigh mutation rateSynonymous sitesPhylogenetic treeMitochondrial DNAPhylogenetic analysisCodon usageCoalescent timesCold adaptationNonsynonymous changesAcid replacementsSynonymous transitionsDivergent poolValine codonNonsynonymous mutationsBase substitutions
2004
MitoP2, an integrated database on mitochondrial proteins in yeast and man
Andreoli C, Prokisch H, Hörtnagel K, Mueller JC, Münsterkötter M, Scharfe C, Meitinger T. MitoP2, an integrated database on mitochondrial proteins in yeast and man. Nucleic Acids Research 2004, 32: d459-d462. PMID: 14681457, PMCID: PMC308871, DOI: 10.1093/nar/gkh137.Peer-Reviewed Original ResearchConceptsMitochondrial proteinsProtein-protein interactionsMitochondrial proteomeHuman mitochondriopathiesMutant screeningHuman proteinsProteome mappingExpression profilingGenetic characterizationYeastProteinComputational predictionsSearch toolsMitoP2ProteomeReference setComprehensive listProfilingSequenceMitochondriopathy
2003
A tRNAAla mutation causing mitochondrial myopathy clinically resembling myotonic dystrophy
Horváth R, Lochmüller H, Scharfe C, Do BH, Oefner PJ, Müller-Höcker J, Schoser BG, Pongratz D, Auer DP, Jaksch M. A tRNAAla mutation causing mitochondrial myopathy clinically resembling myotonic dystrophy. Journal Of Medical Genetics 2003, 40: 752. PMID: 14569122, PMCID: PMC1735288, DOI: 10.1136/jmg.40.10.752.Peer-Reviewed Original Research
2002
Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene
Horváth R, Scharfe C, Hoeltzenbein M, Do BH, Schröder C, Warzok R, Vogelgesang S, Lochmüller H, Müller-Höcker J, Gerbitz KD, Oefner PJ, Jaksch M. Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene. Journal Of Medical Genetics 2002, 39: 812. PMID: 12414820, PMCID: PMC1735018, DOI: 10.1136/jmg.39.11.812.Peer-Reviewed Original Research
2001
Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies
Jaksch M, Kleinle S, Scharfe C, Klopstock T, Pongratz D, Müller-Höcker J, Gerbitz KD, Liechti-Gallati S, Lochmuller H, Horvath R. Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies. Journal Of Medical Genetics 2001, 38: 665. PMID: 11584044, PMCID: PMC1734743, DOI: 10.1136/jmg.38.10.665.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultChildChild, PreschoolDNA Mutational AnalysisElectron TransportFemaleGene FrequencyGenetic VariationGenotypeHumansInfantInfant, NewbornMaleMiddle AgedMitochondria, MuscleMitochondrial DiseasesMuscle, SkeletalMutationPhenotypePolymorphism, GeneticRNARNA, MitochondrialRNA, TransferSequence DeletionConceptsMitochondrial transfer RNA (mt-tRNA) mutationsAdult patientsRespiratory chain deficiencyDistinct neurological syndromesChain deficiencyNeonatal groupPediatric groupClinical symptomsNeurological syndromeIndex patientsPathogenic mitochondrial DNA mutationsPatientsPathogenic relevanceMitochondrial DNA mutationsSkeletal musclePathogenic mutationsMuscle DNARNA mutationsMitochondrial disordersG mutationSkeletal muscle DNADeficiencyDetection rateDNA mutationsRC deficiency
2000
A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I
Scharfe C, Hauschild M, Klopstock T, Janssen AJ, Heidemann PH, Meitinger T, Jaksch M. A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I. Journal Of Medical Genetics 2000, 37: 669. PMID: 10978358, PMCID: PMC1734685, DOI: 10.1136/jmg.37.9.669.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAnemia, MegaloblasticBase SequenceCarrier ProteinsConsanguinityDNADNA Mutational AnalysisElectron Transport Complex IFamily HealthFemaleHumansMaleMembrane Transport ProteinsMitochondria, MuscleMuscle, SkeletalMutationNADH, NADPH OxidoreductasesPedigreePoint MutationPyruvate Dehydrogenase ComplexPyruvate Dehydrogenase Complex Deficiency DiseaseThiamineConceptsComplex I activityEarly-onset autosomal recessive disorderHigh-dose thiamine supplementationBrain MRI lesionsThiamine-responsive megaloblastic anemiaAutosomal recessive disorderI activityMRI lesionsClinical featuresMegaloblastic anemiaSkin biopsiesThiamine supplementationThiamine deficiencyTypical triadSLC19A2 geneRetinal degenerationHigh dosesConsanguineous parentsShort statureMitochondrial energy productionMitochondrial abnormalitiesSevere deficiencyRecessive disorderRespiratory chain complex IChain complex I
1998
Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness (DIDMOAD) Caused by Mutations in a Novel Gene (Wolframin) Coding for a Predicted Transmembrane Protein
Strom T, Hörtnagel K, Hofmann S, Gekeler F, Scharfe C, Rabl W, Gerbitz K, Meitinger T. Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness (DIDMOAD) Caused by Mutations in a Novel Gene (Wolframin) Coding for a Predicted Transmembrane Protein. Human Molecular Genetics 1998, 7: 2021-2028. PMID: 9817917, DOI: 10.1093/hmg/7.13.2021.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAmino Acid SequenceAnimalsChildChromosomes, Human, Pair 4DNAExonsFamily HealthFemaleGenesGenetic MarkersHumansIntronsMaleMembrane ProteinsMiceMolecular Sequence DataMutationPedigreePhysical Chromosome MappingPolymorphism, Single-Stranded ConformationalSequence AlignmentSequence Analysis, DNASequence Homology, Amino AcidWolfram SyndromeConceptsOptic atrophyWolfram syndrome patientsJuvenile diabetes mellitusWolfram syndrome familiesAutosomal recessive disorderMitochondrial DNA deletionsDiabetes mellitusPeripheral neuropathyNeurological symptomsDiabetes insipidusPsychiatric illnessSyndrome patientsWolfram syndromeHeterozygous carriersRecessive disorderSyndrome familiesAffected individualsMellitusPatientsAtrophyInsipidusFunction mutationsDeafnessDNA deletionsTransmembrane protein