2018
RPSA, a candidate gene for isolated congenital asplenia, is required for pre-rRNA processing and spleen formation in Xenopus
Griffin JN, Sondalle SB, Robson A, Mis EK, Griffin G, Kulkarni SS, Deniz E, Baserga SJ, Khokha MK. RPSA, a candidate gene for isolated congenital asplenia, is required for pre-rRNA processing and spleen formation in Xenopus. Development 2018, 145: dev166181. PMID: 30337486, PMCID: PMC6215398, DOI: 10.1242/dev.166181.Peer-Reviewed Original ResearchConceptsPre-rRNA processingSmall ribosomal subunitCommon disease-associated mutationDisease-associated mutationsRpsA mRNARibosome biogenesisRibosome productionRibosome functionRibosomal subunitCandidate genesHuman mRNAsProtein componentsImpairs expressionSpleen developmentMolecular patterningRPSASpleen anlageMutationsXenopusGenesFirst animal modelUniversal requirementMRNA
2017
The pre-rRNA processing factor DEF is rate limiting for the pathogenesis of MYCN-driven neuroblastoma
Tao T, Sondalle SB, Shi H, Zhu S, Perez-Atayde AR, Peng J, Baserga SJ, Look AT. The pre-rRNA processing factor DEF is rate limiting for the pathogenesis of MYCN-driven neuroblastoma. Oncogene 2017, 36: 3852-3867. PMID: 28263972, PMCID: PMC5501763, DOI: 10.1038/onc.2016.527.Peer-Reviewed Original ResearchConceptsDigestive organ expansion factorSmall ribosomal subunitPeripheral sympathetic nervous systemPre-ribosomal RNA processingTransgenic zebrafish modelOverexpression of MYCNNeuroblastoma cellsRibosome biogenesisSSU processomeNucleolar factorsRNA processingSympathetic nervous systemRibosomal subunitZebrafish modelHuman neuroblastoma cell lineTumor growth rateHuman neuroblastoma cellsNeuroblastoma cell linesNovel siteZebrafishCell linesNervous systemHuman neuroblastomaDisease penetranceNeuroblastoma