Featured Publications
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 individualsMutationsHuman 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 Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsNorth American Indian childhood cirrhosisSSU processome componentsSSU processomeBowen-Conradi syndromeHuman diseasesSmall subunit processomeProduction of ribosomesRibosomal protein assemblyLarge ribonucleoproteinRibosome biogenesisFunctional ribosomesEukaryotic cellsProcessomeProtein assembliesCellular machinesRibosomesRNA cleavageProtein synthesisRibonucleoproteinEukaryotesCirhinAssemblyRRNAsRibosomopathiesBiogenesis
2023
Human nucleolar protein 7 (NOL7) is required for early pre-rRNA accumulation and pre-18S rRNA processing
McCool M, Bryant C, Huang H, Ogawa L, Farley-Barnes K, Sondalle S, Abriola L, Surovtseva Y, Baserga S. Human nucleolar protein 7 (NOL7) is required for early pre-rRNA accumulation and pre-18S rRNA processing. RNA Biology 2023, 20: 257-271. PMID: 37246770, PMCID: PMC10228412, DOI: 10.1080/15476286.2023.2217392.Peer-Reviewed Original ResearchConceptsPre-rRNA accumulationRibosome biogenesisNonessential roleEukaryotic ribosome biogenesisEssential cellular processesNucleolar stress responsePre-rRNA levelsRRNA processingLikely orthologCellular processesAssociated proteinsTumor suppressorStress responseHuman cellsProtein synthesisProtein 7Human counterpartBiogenesisYeastOrthologsHomologSubcomplexAccumulationRRNATranscription