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
2014
Preclinical Safety Evaluation of a Recombinant AAV8 Vector for X-Linked Retinoschisis After Intravitreal Administration in Rabbits
Marangoni D, Wu Z, Wiley HE, Zeiss CJ, Vijayasarathy C, Zeng Y, Hiriyanna S, Bush RA, Wei LL, Colosi P, Sieving PA. Preclinical Safety Evaluation of a Recombinant AAV8 Vector for X-Linked Retinoschisis After Intravitreal Administration in Rabbits. Human Gene Therapy 2014, 25: 202-211. PMID: 25211193, PMCID: PMC4275775, DOI: 10.1089/humc.2014.067.Peer-Reviewed Original ResearchConceptsIntravitreal administrationDose groupEye groupClinical trialsOcular inflammatory reactionRs1-KO miceHigh-dose groupPreclinical safety evaluationNew Zealand white rabbitsAdeno-associated viral vectorZealand white rabbitsIrreversible tissue damageNovel gene therapy approachVitreous infiltratesIntraocular inflammationOcular inflammationInflammatory infiltrateOphthalmological examinationEye doseInflammatory cellsIntravitreal routeOcular safetyClinical signsCommon causeHistopathological analysis
2011
Poliomyelitis in MuLV-infected ICR-SCID mice after injection of basement membrane matrix contaminated with lactate dehydrogenase-elevating virus.
Carlson Scholz JA, Garg R, Compton SR, Allore HG, Zeiss CJ, Uchio EM. Poliomyelitis in MuLV-infected ICR-SCID mice after injection of basement membrane matrix contaminated with lactate dehydrogenase-elevating virus. Comparative Medicine 2011, 61: 404-11. PMID: 22330347, PMCID: PMC3193062.Peer-Reviewed Original ResearchConceptsAge-dependent poliomyelitisClinical signsDehydrogenase-elevating virusICR-SCID miceSpinal cordRT-PCRMurine leukemia virusLife-long viremiaLactate dehydrogenase-elevating virusLeukemia virusVentral spinal cordEndogenous murine leukemia virusPCR-positive animalsLDV infectionClinical presentationAxonal degenerationICR miceVentral rootsTypical neuropathologyTransplantable tumorsInadvertent exposurePoliomyelitisBasement membrane matrixHindlimb musculaturePremonitory signs