2024
Multiscale modeling uncovers 7q11.23 copy number variation–dependent changes in ribosomal biogenesis and neuronal maturation and excitability
Mihailovich M, Germain P, Shyti R, Pozzi D, Noberini R, Liu Y, Aprile D, Tenderini E, Troglio F, Trattaro S, Fabris S, Ciptasari U, Rigoli M, Caporale N, D’Agostino G, Mirabella F, Vitriolo A, Capocefalo D, Skaros A, Franchini A, Ricciardi S, Biunno I, Neri A, Kasri N, Bonaldi T, Aebersold R, Matteoli M, Testa G. Multiscale modeling uncovers 7q11.23 copy number variation–dependent changes in ribosomal biogenesis and neuronal maturation and excitability. Journal Of Clinical Investigation 2024, 134: e168982. PMID: 39007270, PMCID: PMC11245157, DOI: 10.1172/jci168982.Peer-Reviewed Original ResearchConceptsCopy number variationsWilliams-Beuren syndromeRibosome biogenesisP-RPS6Neurodevelopmental disordersRibosomal genesP-4EBPNumber variationsTranslation factorsMicroduplication syndromeMolecular mechanismsGenesNeuronal differentiationPatient-derivedIntrinsic excitabilityMTOR pathwayBiogenesisNeuronal maturationPhosphorylated rpS6Neuronal transmissionWilliams-BeurenPathophysiological relevanceNeurocognitive featuresIntellectual disabilityDisease models
2017
Proteotyping Gene Dosage Effects in Genetic Diseases
Liu Y, Aebersold R. Proteotyping Gene Dosage Effects in Genetic Diseases. The FASEB Journal 2017, 31 DOI: 10.1096/fasebj.31.1_supplement.926.3.Peer-Reviewed Original ResearchGene dosage imbalanceCopy number variationsProtein degradationDosage imbalanceGenetic diseasesSubstantial post-transcriptional regulationHeteromeric protein complexesDivergent expression levelsPost-transcriptional regulationCorresponding protein abundanceDNA copy number variationsComponents of pathwaysTurnover analysisPatient-derived induced pluripotent stem cellsInduced pluripotent stem cellsSWATH mass spectrometryPluripotent stem cellsGene dosage effectProtein turnover ratesPluripotent stateTranscript profilingSILAC experimentsProtein complexesTranslational regulationRNA-seq