2020
The epichaperome is a mediator of toxic hippocampal stress and leads to protein connectivity-based dysfunction
Inda MC, Joshi S, Wang T, Bolaender A, Gandu S, Koren III J, Che AY, Taldone T, Yan P, Sun W, Uddin M, Panchal P, Riolo M, Shah S, Barlas A, Xu K, Chan LYL, Gruzinova A, Kishinevsky S, Studer L, Fossati V, Noggle SA, White JR, de Stanchina E, Sequeira S, Anthoney KH, Steele JW, Manova-Todorova K, Patil S, Dunphy MP, Pillarsetty N, Pereira AC, Erdjument-Bromage H, Neubert TA, Rodina A, Ginsberg SD, De Marco Garcia N, Luo W, Chiosis G. The epichaperome is a mediator of toxic hippocampal stress and leads to protein connectivity-based dysfunction. Nature Communications 2020, 11: 319. PMID: 31949159, PMCID: PMC6965647, DOI: 10.1038/s41467-019-14082-5.Peer-Reviewed Original Research
2014
DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling
Schueler M, Braun DA, Chandrasekar G, Gee HY, Klasson TD, Halbritter J, Bieder A, Porath JD, Airik R, Zhou W, LoTurco JJ, Che A, Otto EA, Böckenhauer D, Sebire NJ, Honzik T, Harris PC, Koon SJ, Gunay-Aygun M, Saunier S, Zerres K, Bruechle NO, Drenth JP, Pelletier L, Tapia-Páez I, Lifton RP, Giles RH, Kere J, Hildebrandt F. DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling. American Journal Of Human Genetics 2014, 96: 81-92. PMID: 25557784, PMCID: PMC4289677, DOI: 10.1016/j.ajhg.2014.12.002.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAnimalsBeta CateninCiliaComputational BiologyDishevelled ProteinsExonsHEK293 CellsHumansKidneyKidney Diseases, CysticMiceMicroscopy, Electron, TransmissionMicrotubule-Associated ProteinsMutationNIH 3T3 CellsPhenotypePhosphoproteinsWnt Signaling PathwayZebrafishConceptsNPHP-RCWnt inhibitorsΒ-catenin-dependent WntMitotic spindle fibersImportance of WntCiliary axonemeHuman mutationsRenal tubulogenesisWntCiliopathiesSpindle fibersCiliogenesisMutationsDCDC2Dependent mannerKnockdownCentral roleRecessive diseaseInhibitorsMutantsDCDC2 mutationsTubulogenesisAxonemePhenotypeDvl