2011
High-quality DNA sequence capture of 524 disease candidate genes
Shen P, Wang W, Krishnakumar S, Palm C, Chi AK, Enns GM, Davis RW, Speed TP, Mindrinos MN, Scharfe C. High-quality DNA sequence capture of 524 disease candidate genes. Proceedings Of The National Academy Of Sciences Of The United States Of America 2011, 108: 6549-6554. PMID: 21467225, PMCID: PMC3080966, DOI: 10.1073/pnas.1018981108.Peer-Reviewed Original ResearchMeSH KeywordsDNA Mutational AnalysisExonsFemaleGenetic Diseases, InbornGenome-Wide Association StudyHumansMaleMitochondrial ProteinsPolymorphism, Single NucleotideConceptsGenome informationCandidate genomic regionsCopy number differencesHigh GC contentPadlock probesMolecular diagnosticsSingle nucleotide changeExon-level resolutionDisease candidate genesMitochondrial genesGenomic regionsSequence captureOrnithine transcarbamylase deficiencyGC contentOTC geneCandidate genesDNA variantsExon captureGenomic DNANucleotide changesSample processingStructural variantsGenesSequence verificationDNA samples
2006
MitoP2: the mitochondrial proteome database—now including mouse data
Prokisch H, Andreoli C, Ahting U, Heiss K, Ruepp A, Scharfe C, Meitinger T. MitoP2: the mitochondrial proteome database—now including mouse data. Nucleic Acids Research 2006, 34: d705-d711. PMID: 16381964, PMCID: PMC1347489, DOI: 10.1093/nar/gkj127.Peer-Reviewed Original ResearchConceptsMitochondrial proteinsSystematic genome-wide studiesMitochondrial proteome databaseNovel mitochondrial proteinGenome-wide studiesSystems biology approachOrthologous proteinsMolecular functionsBiology approachProteome databaseRare mitochondrial diseaseMitochondrial diseasePhenotype screeningMitochondrial dysfunctionReference proteinProteinMitochondriaMouse dataMitoP2ProteomicsIntegration of dataYeastGenesSpeciesPathway
2004
Integrative Analysis of the Mitochondrial Proteome in Yeast
Prokisch H, Scharfe C, Camp DG, Xiao W, David L, Andreoli C, Monroe ME, Moore RJ, Gritsenko MA, Kozany C, Hixson KK, Mottaz HM, Zischka H, Ueffing M, Herman ZS, Davis RW, Meitinger T, Oefner PJ, Smith RD, Steinmetz LM. Integrative Analysis of the Mitochondrial Proteome in Yeast. PLOS Biology 2004, 2: e160. PMID: 15208715, PMCID: PMC423137, DOI: 10.1371/journal.pbio.0020160.Peer-Reviewed Original ResearchConceptsMitochondrial proteomeGenomic approachesPhenotype screeningGenome-wide approachesSubcellular localization studiesComplex mitochondrial disordersDifferent genomic approachesProtein interaction analysisYeast mitochondriaMitochondrial proteinsMitochondrial organellesProteomic approachProteome studiesAbundant proteinsExpression analysisCandidate genesExpression profilingIntegrative analysisMitochondrial functionLocalization studiesOrganellesMitochondrial disordersProteinSystematic identificationMass spectrometryMitoP2, 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