2017
A 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 individualsMutations
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 Original ResearchConceptsRibosomal 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
2015
The 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 functionsRibosomopathiesBiogenesis
2013
Human diseases of the SSU processome
Sondalle SB, Baserga SJ. Human diseases of the SSU processome. Biochimica Et Biophysica Acta 2013, 1842: 758-764. PMID: 24240090, PMCID: PMC4058823, DOI: 10.1016/j.bbadis.2013.11.004.Peer-Reviewed Original ResearchConceptsNorth American Indian childhood cirrhosisSSU processome componentsSSU processomeBowen-Conradi syndromeHuman diseasesSmall subunit processomeProduction of ribosomesRibosomal protein assemblyLarge ribonucleoproteinRibosome biogenesisFunctional ribosomesEukaryotic cellsProcessomeProtein assembliesCellular machinesRibosomesRNA cleavageProtein synthesisRibonucleoproteinEukaryotesCirhinAssemblyRRNAsRibosomopathiesBiogenesis