2023
Glia-neuron coupling via a bipartite sialylation pathway promotes neural transmission and stress tolerance in Drosophila
Scott H, Novikov B, Ugur B, Allen B, Mertsalov I, Monagas-Valentin P, Koff M, Robinson S, Aoki K, Veizaj R, Lefeber D, Tiemeyer M, Bellen H, Panin V. Glia-neuron coupling via a bipartite sialylation pathway promotes neural transmission and stress tolerance in Drosophila. ELife 2023, 12: e78280. PMID: 36946697, PMCID: PMC10110239, DOI: 10.7554/elife.78280.Peer-Reviewed Original ResearchConceptsSialylation pathwayCMP-sialic acid synthetaseStress toleranceAnimal developmentProtein functionVoltage-gated sodium channelsGlycan terminiNeural transmissionDedicated pathwaysGenesDifferent cellsPathwayOxidative stressSodium channelsSialic acidNervous systemNeural excitabilitySialylationToleranceNormal levelsNeural functionDrosophilaTerminusExcitabilitySynthetase
2020
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms
Barish S, Barakat T, Michel B, Mashtalir N, Phillips J, Valencia A, Ugur B, Wegner J, Scott T, Bostwick B, Network U, Murdock D, Dai H, Perenthaler E, Nikoncuk A, van Slegtenhorst M, Brooks A, Keren B, Nava C, Mignot C, Douglas J, Rodan L, Nowak C, Ellard S, Stals K, Lynch S, Faoucher M, Lesca G, Edery P, Engleman K, Zhou D, Thiffault I, Herriges J, Gass J, Louie R, Stolerman E, Washington C, Vetrini F, Otsubo A, Pratt V, Conboy E, Treat K, Shannon N, Camacho J, Wakeling E, Yuan B, Chen C, Rosenfeld J, Westerfield M, Wangler M, Yamamoto S, Kadoch C, Scott D, Bellen H. BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. American Journal Of Human Genetics 2020, 107: 1096-1112. PMID: 33232675, PMCID: PMC7820627, DOI: 10.1016/j.ajhg.2020.11.003.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAnimalsChildChild, PreschoolChromosomal Proteins, Non-HistoneDevelopmental DisabilitiesDrosophila melanogasterDrosophila ProteinsFemaleGenes, DominantGenetic VariationHaploinsufficiencyHumansInfantMaleMicroscopy, ConfocalMutation, MissenseNeurogliaNeuronsPhenotypeProtein BindingTumor Suppressor ProteinsZebrafishZebrafish ProteinsConceptsSWI/SNF complex membersComplex membersSWI/SNF familyPosition-effect variegationIntellectual disability disordersContext-specific mannerNcBAF complexesDrosophila orthologDominant enhancersBAF complexModel organismsFunctional characterizationDisability disordersCraniofacial defectsNeurodevelopmental phenotypesOrthologsRelated phenotypesPhenotypeFunction variantsRare neurodevelopmental disorderGenesRare variantsFliesPathogenic variantsNeurodevelopmental disorders