2024
VPS13B is localized at the interface between Golgi cisternae and is a functional partner of FAM177A1
Ugur B, Schueder F, Shin J, Hanna M, Wu Y, Leonzino M, Su M, McAdow A, Wilson C, Postlethwait J, Solnica-Krezel L, Bewersdorf J, De Camilli P. VPS13B is localized at the interface between Golgi cisternae and is a functional partner of FAM177A1. Journal Of Cell Biology 2024, 223: e202311189. PMID: 39331042, PMCID: PMC11451052, DOI: 10.1083/jcb.202311189.Peer-Reviewed Original ResearchConceptsLipid transportGolgi complex proteinGolgi subcompartmentsGolgi membranesGolgi cisternaeProtein familyFunctional partnersGolgi complexKO cellsComplex proteinsFAM177A1GolgiVPS13BAdjacent membranesMutationsProteinCohen syndromeLipidOrthologsInteractorsBrefeldinMembraneOrganellesSubcompartmentsDevelopmental disorders
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