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
2010
REVIEW PAPER: Animals as Models of Age-Related Macular Degeneration
Zeiss CJ. REVIEW PAPER: Animals as Models of Age-Related Macular Degeneration. Veterinary Pathology 2010, 47: 396-413. PMID: 20382825, DOI: 10.1177/0300985809359598.Peer-Reviewed Original ResearchConceptsAge-related macular degenerationMacular degenerationRelevant mouse modelNonhuman primate modelCause of blindnessRetinal pigment epitheliumMajority of casesEtiologic complexityAMD pathologyChoroidal neovascularizationEtiologic factorsModel of agePrimate modelRodent retinaPathogenetic mechanismsMouse modelGenetic predispositionSalient anatomyPigment epitheliumAnimal modelsDegenerative conditionsComplement activationLipid metabolismBruch's membraneGene function
2009
CREB1/ATF1 Activation in Photoreceptor Degeneration and Protection
Beltran WA, Allore HG, Johnson E, Towle V, Tao W, Acland GM, Aguirre GD, Zeiss CJ. CREB1/ATF1 Activation in Photoreceptor Degeneration and Protection. Investigative Ophthalmology & Visual Science 2009, 50: 5355-5363. PMID: 19643965, PMCID: PMC3172238, DOI: 10.1167/iovs.09-3741.Peer-Reviewed Original ResearchMeSH KeywordsActivating Transcription Factor 1AgedAged, 80 and overAnimalsArrestinCell CountCiliary Neurotrophic FactorCyclic AMP Response Element-Binding ProteinDog DiseasesDogsFemaleGenotypeHumansImmunoblottingImmunoenzyme TechniquesMacular DegenerationMalePhosphorylationPhotoreceptor Cells, VertebrateRetinitis PigmentosaRhodopsinConceptsAge-related macular degenerationCiliary neurotrophic factorNormal canine retinaRcd1 dogsCanine retinaHuman retinaInnate protective responseNeuroprotective stimulusInner retinaNeurotrophic factorTranscription factor 1Macular degenerationRetinal protectionPhotoreceptor protectionP-CREB1Photoreceptor diseaseNormal dogsCanine modelPhotoreceptor degenerationRetinal degenerationProtective responseStrong immunolabelingCone photoreceptorsPhotoreceptor nucleiRetina
2005
Complement Factor H Polymorphism in Age-Related Macular Degeneration
Klein RJ, Zeiss C, Chew EY, Tsai JY, Sackler RS, Haynes C, Henning AK, SanGiovanni JP, Mane SM, Mayne ST, Bracken MB, Ferris FL, Ott J, Barnstable C, Hoh J. Complement Factor H Polymorphism in Age-Related Macular Degeneration. Science 2005, 308: 385-389. PMID: 15761122, PMCID: PMC1512523, DOI: 10.1126/science.1109557.Peer-Reviewed Original ResearchMeSH KeywordsAgedAged, 80 and overAgingAllelesAmino Acid SubstitutionCase-Control StudiesChoroidChromosomes, Human, Pair 1Complement Factor HComplement Membrane Attack ComplexExonsFemaleGenetic MarkersGenetic Predisposition to DiseaseGenotypeHaplotypesHistidineHumansImmunity, InnateIntronsLinkage DisequilibriumMacular DegenerationMaleOligonucleotide Array Sequence AnalysisPigment Epithelium of EyePolymorphism, GeneticPolymorphism, Single NucleotideRisk FactorsSmokingConceptsAge-related macular degenerationComplement factor H (CFH) geneMacular degenerationLikelihood of AMDComplement Factor H PolymorphismRisk allelesC-reactive proteinFactor H geneAmino acids 402H polymorphismCFH geneFamily-based studyMajor causeSingle nucleotide polymorphismsCommon variantsDegenerationPolymorphismH gene