2021
DNA glycosylase deficiency leads to decreased severity of lupus in the Polb-Y265C mouse model
Paluri SL, Burak M, Senejani AG, Levinson M, Rahim T, Clairmont K, Kashgarian M, Alvarado-Cruz I, Meas R, Cardó-Vila M, Zeiss C, Maher S, Bothwell ALM, Coskun E, Kant M, Jaruga P, Dizdaroglu M, Lloyd R, Sweasy JB. DNA glycosylase deficiency leads to decreased severity of lupus in the Polb-Y265C mouse model. DNA Repair 2021, 105: 103152. PMID: 34186496, PMCID: PMC8635285, DOI: 10.1016/j.dnarep.2021.103152.Peer-Reviewed Original Research
2019
An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease
Mäkeläinen S, Gòdia M, Hellsand M, Viluma A, Hahn D, Makdoumi K, Zeiss CJ, Mellersh C, Ricketts SL, Narfström K, Hallböök F, Ekesten B, Andersson G, Bergström TF. An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease. PLOS Genetics 2019, 15: e1007873. PMID: 30889179, PMCID: PMC6424408, DOI: 10.1371/journal.pgen.1007873.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAnimalsATP Binding Cassette Transporter, Subfamily A, Member 4ATP-Binding Cassette TransportersBase SequenceCodon, NonsenseDisease Models, AnimalDog DiseasesDogsFemaleGenes, RecessiveHomozygoteHumansLipofuscinMacular DegenerationMaleMicroscopy, FluorescenceModels, MolecularMutagenesis, InsertionalMutationPedigreeProtein ConformationRetinaStargardt DiseaseWhole Genome SequencingConceptsRetinal pigment epitheliumStargardt diseaseAutosomal recessive retinal degenerative diseaseRetinal degenerationABCA4 geneVisual impairmentCentral visual impairmentFull-length ABCA4 proteinFunction mutationsLabrador Retriever dogsLarge animal modelRetinal degenerative diseasesAutosomal recessive retinal degenerationMember 4 geneRecessive retinal degenerationStandard treatmentClinical trialsClinical signsLipofuscin depositsPigment epitheliumAnimal modelsCanine modelUnaffected dogsAffected dogsCone photoreceptors
2006
Safety in Nonhuman Primates of Ocular AAV2-RPE65, a Candidate Treatment for Blindness in Leber Congenital Amaurosis
Jacobson SG, Boye SL, Aleman TS, Conlon TJ, Zeiss CJ, Roman AJ, Cideciyan AV, Schwartz SB, Komaromy AM, Doobrajh M, Cheung AY, Sumaroka A, Pearce-Kelling SE, Aguirre GD, Kaushal S, Maguire AM, Flotte TR, Hauswirth WW. Safety in Nonhuman Primates of Ocular AAV2-RPE65, a Candidate Treatment for Blindness in Leber Congenital Amaurosis. Human Gene Therapy 2006, 17: 845-858. PMID: 16942444, DOI: 10.1089/hum.2006.17.845.Peer-Reviewed Original ResearchConceptsLeber congenital amaurosisOptic nerveGood Laboratory Practice safety studiesCongenital amaurosisObserved adverse effect levelSafety studiesRPE65-mutant dogsSingle intraocular injectionVector-injected eyesHeterogeneous disease groupNormal cynomolgus monkeysAdverse effect levelFuture human trialsGene transfer trialsDose-dependent mannerHigh vector dosesPresurgical recordingsRetinal histopathologyInjected eyeControl eyesIntraocular injectionRetinal injuryCentral retinaThickness abnormalitiesClinical examination
2004
A null mutation of Hhex results in abnormal cardiac development,defective vasculogenesis and elevated Vegfa levels
Hallaq H, Pinter E, Enciso J, McGrath J, Zeiss C, Brueckner M, Madri J, Jacobs HC, Wilson CM, Vasavada H, Jiang X, Bogue CW. A null mutation of Hhex results in abnormal cardiac development,defective vasculogenesis and elevated Vegfa levels. Development 2004, 131: 5197-5209. PMID: 15459110, DOI: 10.1242/dev.01393.Peer-Reviewed Original ResearchConceptsEpithelial-mesenchymal transformationVEGFA levelsVentricular septal defectVascular endothelial growth factorDefective vasculogenesisEndothelial growth factorEndocardial cushionsInhibitor of VEGFVascular developmentTract abnormalitiesSeptal defectSFlt-1Right ventricleNormal liverVentral foregut endodermNormal cardiovascular developmentReceptor 1Abnormal cardiac developmentGrowth factorNull mutationVentral foregutAberrant developmentCompact myocardiumAV explantsE8.5-9.0