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