Featured Publications
Fanconi anemia protein FANCI functions in ribosome biogenesis
Sondalle SB, Longerich S, Ogawa LM, Sung P, Baserga SJ. Fanconi anemia protein FANCI functions in ribosome biogenesis. Proceedings Of The National Academy Of Sciences Of The United States Of America 2019, 116: 2561-2570. PMID: 30692263, PMCID: PMC6377447, DOI: 10.1073/pnas.1811557116.Peer-Reviewed Original ResearchA Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism
Paolini NA, Attwood M, Sondalle SB, dos Santos Vieira C, van Adrichem AM, di Summa FM, O’Donohue M, Gleizes PE, Rachuri S, Briggs JW, Fischer R, Ratcliffe PJ, Wlodarski MW, Houtkooper RH, von Lindern M, Kuijpers TW, Dinman JD, Baserga SJ, Cockman ME, MacInnes AW. A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism. American Journal Of Human Genetics 2017, 100: 506-522. PMID: 28257692, PMCID: PMC5339345, DOI: 10.1016/j.ajhg.2017.01.034.Peer-Reviewed Original ResearchMeSH KeywordsAutism Spectrum DisorderCarrier ProteinsCells, CulturedChildChild, PreschoolCodonDevelopmental DisabilitiesExomeFemaleFibroblastsGenetic VariationHearing LossHumansIntellectual DisabilityMaleMicrocephalyMutationMutation, MissenseNuclear ProteinsOxidative StressProtein BiosynthesisRibosomal ProteinsRibosomesSequence AlignmentSequence Analysis, DNAConceptsMRNA translationRibosomal protein gene mutationsRP gene mutationsAmino acid substitutionsDefective ribosomesSubunit biogenesisCodon translationRibosomal subunitPolysome formationGene mutationsProline residuesDe novo missense mutationsAcid substitutionsLoop regionProtein synthesisBone marrow failurePhenylalanine residuesNovo missense mutationMechanistic distinctionsPrimary cellsMissense mutationsRibosomopathiesProtein gene mutationsUnrelated individualsMutationsThe Ribosome Biogenesis Factor Nol11 Is Required for Optimal rDNA Transcription and Craniofacial Development in Xenopus
Griffin JN, Sondalle SB, del Viso F, Baserga SJ, Khokha MK. The Ribosome Biogenesis Factor Nol11 Is Required for Optimal rDNA Transcription and Craniofacial Development in Xenopus. PLOS Genetics 2015, 11: e1005018. PMID: 25756904, PMCID: PMC4354908, DOI: 10.1371/journal.pgen.1005018.Peer-Reviewed Original ResearchConceptsCranial neural crestCraniofacial developmentRibosome biogenesisRibosome biogenesis proteinsRibosome biogenesis defectsProduction of ribosomesPre-rRNA transcriptionHuman tissue culture cellsMulticellular organismsTissue culture cellsBiogenesis proteinsRDNA transcriptionBiogenesis defectsCraniofacial cartilageRRNA transcriptionNucleolar proteinsP53 rescueNeural crestCell survivalTranscriptionSkeletal phenotypeCulture cellsCritical functionsRibosomopathiesBiogenesisRibosomes Need Straight A’s to Sleep
Sondalle SB, Baserga SJ. Ribosomes Need Straight A’s to Sleep. Cell 2017, 169: 565-567. PMID: 28475888, PMCID: PMC5640166, DOI: 10.1016/j.cell.2017.04.019.Commentaries, Editorials and Letters
2016
The 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 rolesRibosomopathiesBiogenesisMachineryMutations