2018
A gene-specific T2A-GAL4 library for Drosophila
Lee P, Zirin J, Kanca O, Lin W, Schulze K, Li-Kroeger D, Tao R, Devereaux C, Hu Y, Chung V, Fang Y, He Y, Pan H, Ge M, Zuo Z, Housden B, Mohr S, Yamamoto S, Levis R, Spradling A, Perrimon N, Bellen H. A gene-specific T2A-GAL4 library for Drosophila. ELife 2018, 7: e35574. PMID: 29565247, PMCID: PMC5898912, DOI: 10.7554/elife.35574.Peer-Reviewed Original ResearchConceptsFunction phenotypesIntrons of genesExpression of hundredsCell-type specificityLethal insertionsEssential genesGene functionEndogenous promoterLethal mutationsCDNA constructsGene expressionInserted cassettesGenesPowerful resourceExpressionPhenotypeSignal 3DrosophilaGAL4Severe lossIntronsChromosomesTranscriptionCRISPRPromoter
2017
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially
Luo X, Rosenfeld J, Yamamoto S, Harel T, Zuo Z, Hall M, Wierenga K, Pastore M, Bartholomew D, Delgado M, Rotenberg J, Lewis R, Emrick L, Bacino C, Eldomery M, Coban Akdemir Z, Xia F, Yang Y, Lalani S, Lotze T, Lupski J, Lee B, Bellen H, Wangler M, . Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. PLOS Genetics 2017, 13: e1006905. PMID: 28742085, PMCID: PMC5557584, DOI: 10.1371/journal.pgen.1006905.Peer-Reviewed Original ResearchMeSH KeywordsAllelesAnimalsAnimals, Genetically ModifiedCalcium ChannelsCerebellar AtaxiaChildChild, PreschoolDrosophila melanogasterFemaleGenome-Wide Association StudyGenome, HumanHumansMaleMicroscopy, Electron, TransmissionMutation, MissenseNeurodegenerative DiseasesNeuroimagingPhenotypePoint MutationConceptsNeurodegenerative phenotypeGenomic rescue constructsS4 transmembrane segmentRescue constructTransmembrane segmentsFunction phenotypesLoss of functionMissense allelesFunction allelesWild typeGlobal developmental delayToxic gainMutant clonesDominant mutationsDevelopmental delayPoint mutationsDrosophilaFunctional impactPhenotypeQ-type voltage-dependent Ca2Early-onset developmental delayNeurological phenotypeAllelesSynaptic functionNovel variants
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