2009
Embryonic arrest at midgestation and disruption of Notch signaling produced by the absence of both epsin 1 and epsin 2 in mice
Chen H, Ko G, Zatti A, Di Giacomo G, Liu L, Raiteri E, Perucco E, Collesi C, Min W, Zeiss C, De Camilli P, Cremona O. Embryonic arrest at midgestation and disruption of Notch signaling produced by the absence of both epsin 1 and epsin 2 in mice. Proceedings Of The National Academy Of Sciences Of The United States Of America 2009, 106: 13838-13843. PMID: 19666558, PMCID: PMC2728981, DOI: 10.1073/pnas.0907008106.Peer-Reviewed Original ResearchConceptsEndocytic adaptorsRole of epsinsClathrin-mediated endocytosisSpecific membrane proteinsDouble knockout embryosPrimary target genesBeginning of organogenesisActivation of NotchEmbryonic lethalityPutative functionsKnockout embryosEmbryonic arrestMembrane proteinsGenetic approachesTarget genesDKO embryosNotch activationNotch signalingEndocytic functionDevelopmental defectsGenesEpsinEmbryosInactivation resultsEndocytosis
2006
Safety of Recombinant Adeno-Associated Virus Type 2–RPE65 Vector Delivered by Ocular Subretinal Injection
Jacobson SG, Acland GM, Aguirre GD, Aleman TS, Schwartz SB, Cideciyan AV, Zeiss CJ, Komaromy AM, Kaushal S, Roman AJ, Windsor EA, Sumaroka A, Pearce-Kelling SE, Conlon TJ, Chiodo VA, Boye SL, Flotte TR, Maguire AM, Bennett J, Hauswirth WW. Safety of Recombinant Adeno-Associated Virus Type 2–RPE65 Vector Delivered by Ocular Subretinal Injection. Molecular Therapy 2006, 13: 1074-1084. PMID: 16644289, DOI: 10.1016/j.ymthe.2006.03.005.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAnimals, Genetically ModifiedBlindnessCarrier ProteinsCis-trans-IsomerasesDependovirusDogsDose-Response Relationship, DrugDrug-Related Side Effects and Adverse ReactionsEye ProteinsFemaleGenetic TherapyGenetic VectorsInjections, IntralesionalMaleOptic Atrophy, Hereditary, LeberRatsRats, Sprague-DawleyRecombinant ProteinsRetinaTissue DistributionConceptsRPE65-mutant dogsLeber congenital amaurosisMonths postinjectionHuman trialsBiodistribution studiesVector dosesHigh vector dosesOcular examinationRetinal histopathologyInjected eyeOptic nerveDose-response resultsModerate inflammationNormal ratsTraumatic lesionsDose efficacyVisual centersSubretinal injectionRPE65 geneSystemic toxicityVirus typeCongenital amaurosisOcular deliveryPostinjectionDoses