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
2017
The Krebs Cycle Enzyme Isocitrate Dehydrogenase 3A Couples Mitochondrial Metabolism to Synaptic Transmission
Ugur B, Bao H, Stawarski M, Duraine LR, Zuo Z, Lin YQ, Neely GG, Macleod GT, Chapman ER, Bellen HJ. The Krebs Cycle Enzyme Isocitrate Dehydrogenase 3A Couples Mitochondrial Metabolism to Synaptic Transmission. Cell Reports 2017, 21: 3794-3806. PMID: 29281828, PMCID: PMC5747319, DOI: 10.1016/j.celrep.2017.12.005.Peer-Reviewed Original ResearchConceptsSynaptic vesiclesKrebs cycle enzymeRole of metabolitesC2 domainPlasma membraneMitochondrial metabolismSynaptic transmissionMetabolic regulationCycle enzymesSynaptic roleAlpha-ketoglutarateSyt1ΑKGNeurodegenerative disordersDependent processesRegulationMetabolitesIDH3ASynaptotagmin1Multiple levelsFliesRoleFusionVesiclesATP
2016
Drosophila tools and assays for the study of human diseases
Ugur B, Chen K, Bellen HJ. Drosophila tools and assays for the study of human diseases. Disease Models & Mechanisms 2016, 9: 235-244. PMID: 26935102, PMCID: PMC4833332, DOI: 10.1242/dmm.023762.Peer-Reviewed Original ResearchConceptsHuman diseasesHuman disease-causing genesUse of DrosophilaDrosophila melanogasterDisease-causing genesMolecular parallelsSpecific genesMolecular mechanismsPhysiological processesPathogenic mechanismsMorphological differencesCellular featuresFliesGenesMolecular pathogenesisInternal organ systemsAssaysCentral nervous systemDrosophilaMelanogasterVertebratesPowerful toolNervous systemOrgan systemsOrganisms