2016
Probing the mechanisms underlying human diseases in making ribosomes.
Farley KI, Baserga SJ. Probing the mechanisms underlying human diseases in making ribosomes. Biochemical Society Transactions 2016, 44: 1035-44. PMID: 27528749, PMCID: PMC5360156, DOI: 10.1042/bst20160064.Peer-Reviewed Original ResearchThe Contributions of the Ribosome Biogenesis Protein Utp5/WDR43 to Craniofacial Development
Sondalle SB, Baserga SJ, Yelick PC. The Contributions of the Ribosome Biogenesis Protein Utp5/WDR43 to Craniofacial Development. Journal Of Dental Research 2016, 95: 1214-1220. PMID: 27221611, PMCID: PMC5076753, DOI: 10.1177/0022034516651077.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsRibosomal proteinsCraniofacial developmentRibosome biogenesis proteinsRibosomal protein functionHuman craniofacial developmentTissue-specific defectsDiverse cell typesHuman ribosomopathiesBiogenesis proteinsTranslational machineryProtein functionDistinct functionsTranslational mechanismsTissue differentiationCell typesWDR43Global defectsProteinExciting researchSurprising similaritiesUnderstanding of rolesRibosomopathiesBiogenesisMachineryMutationsThe molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
McCann KL, Teramoto T, Zhang J, Hall T, Baserga SJ. The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome. ELife 2016, 5: e16381. PMID: 27077951, PMCID: PMC4859800, DOI: 10.7554/elife.16381.Peer-Reviewed Original ResearchMeSH KeywordsAlopeciaCircular DichroismEndocrine System DiseasesHumansIntellectual DisabilityMagnetic Resonance SpectroscopyModels, BiologicalMutant ProteinsProtein BindingProtein FoldingProtein Interaction MapsRibonucleoproteins, Small NucleolarRibosome Subunits, LargeRNA PrecursorsRNA Processing, Post-TranscriptionalRNA-Binding ProteinsSaccharomyces cerevisiaeSaccharomyces cerevisiae ProteinsConceptsProtein-protein interactionsANE syndromeMolecular basisDefective protein foldingRRNA processing defectsRNA recognition motifMature ribosomesRibosome assemblyHub proteinsRRNA processingNucleolar proteinsDomain foldingProtein foldingRecognition motifHuman diseasesProcessing defectsInteractomeMutationsCircular dichroismHub functionModel systemYeastFoldingProteinNOP4
2012
The Box C/D sRNP dimeric architecture is conserved across Kingdom Archaea
Baserga S, Phipps K, Taylor D, Wang H. The Box C/D sRNP dimeric architecture is conserved across Kingdom Archaea. The FASEB Journal 2012, 26: 773.2-773.2. DOI: 10.1096/fasebj.26.1_supplement.773.2.Peer-Reviewed Original ResearchBox C/D sRNPDimeric architectureBox C/DRecent structural studiesSRNP assemblyArchaeal speciesArchaeal kingdomOligomeric architectureKingdom ArchaeaPyrococcus abyssiArchaeoglobus fulgidusMutational analysisSRNPSingle-particle reconstructionStructural determinantsArchaeaStructural studiesEukaryotesSRNAsFulgidusSolfataricusParticle reconstructionRNASpeciesMutations
1992
Beta-globin nonsense mutation: deficient accumulation of mRNA occurs despite normal cytoplasmic stability.
Baserga S, Benz E. Beta-globin nonsense mutation: deficient accumulation of mRNA occurs despite normal cytoplasmic stability. Proceedings Of The National Academy Of Sciences Of The United States Of America 1992, 89: 2935-2939. PMID: 1557399, PMCID: PMC48778, DOI: 10.1073/pnas.89.7.2935.Peer-Reviewed Original ResearchConceptsMRNA metabolismHeterologous transfection systemRNA polymerase IIHuman beta-globin geneMetabolism of mRNAAmber nonsense mutationsAnalysis of transcriptionAccumulation of mRNARNA expression studiesBeta-globin genePolymerase IIMRNA polyadenylationCytoplasmic stabilityMRNA stabilityExpression studiesPermanent cell linesProtein synthesisTransfection systemMediterranean populationsNonsense mutationSplicing accuracyMutationsDeficient accumulationCell linesMRNA
1988
Nonsense mutations in the human beta-globin gene affect mRNA metabolism.
Baserga S, Benz E. Nonsense mutations in the human beta-globin gene affect mRNA metabolism. Proceedings Of The National Academy Of Sciences Of The United States Of America 1988, 85: 2056-2060. PMID: 3353367, PMCID: PMC279927, DOI: 10.1073/pnas.85.7.2056.Peer-Reviewed Original ResearchConceptsHeterologous transfection systemBeta-globin mRNABeta-globin geneNonsense mutationHuman beta-globin geneTransfection systemTranslation termination codonPeripheral blood cellsHuman beta-globin mRNATranslation termination mutationsMammalian mRNAsMRNA metabolismBeta 17Steady-state levelsTermination codonMRNA accumulationNormal levelsTypes of mutationsTermination mutationsBlood cellsMissense mutationsGenesHuman alphaMutationsZero-thalassemia