2015
Expression of the CTCFL Gene during Mouse Embryogenesis Causes Growth Retardation, Postnatal Lethality, and Dysregulation of the Transforming Growth Factor β Pathway
Sati L, Zeiss C, Yekkala K, Demir R, McGrath J. Expression of the CTCFL Gene during Mouse Embryogenesis Causes Growth Retardation, Postnatal Lethality, and Dysregulation of the Transforming Growth Factor β Pathway. Molecular And Cellular Biology 2015, 35: 3436-3445. PMID: 26169830, PMCID: PMC4561735, DOI: 10.1128/mcb.00381-15.Peer-Reviewed Original ResearchConceptsGrowth factor β pathwayHuman vascular malformationsTestis-expressed genesΒ pathwayParalog of CTCFEmbryonic stem cellsTransforming Growth Factor-β PathwayPrior mouse modelsMouse embryogenesisBioinformatics analysisCancer-testis antigensDownstream targetsES cellsPostnatal lethalityCTCFLEmbryogenesis resultsTGFB pathwayGenesStem cellsVascular defectsPathwayExpressionTransgenic miceEye malformationsPhenotype
2009
Progressive aggregation despite chaperone associations of a mutant SOD1-YFP in transgenic mice that develop ALS
Wang J, Farr GW, Zeiss CJ, Rodriguez-Gil DJ, Wilson JH, Furtak K, Rutkowski DT, Kaufman RJ, Ruse CI, Yates JR, Perrin S, Feany MB, Horwich AL. Progressive aggregation despite chaperone associations of a mutant SOD1-YFP in transgenic mice that develop ALS. Proceedings Of The National Academy Of Sciences Of The United States Of America 2009, 106: 1392-1397. PMID: 19171884, PMCID: PMC2631083, DOI: 10.1073/pnas.0813045106.Peer-Reviewed Original ResearchConceptsNucleotide exchange factorsIntermediate filament proteinsAbundant cytosolic enzymeChaperone interactionsExchange factorMutant formsAmyotrophic lateral sclerosis resultsChaperone associationMotor neuronsRNA hybridizationTransgenic animalsPunctate aggregatesSuperoxide dismutase 1Filament proteinsCytosolic enzymeMisfolded monomersHuman SOD1Predominant expressionSoluble stateBiochemical analysisInsoluble inclusionsDismutase 1Immunoaffinity captureProteinTransgenic mice