2020
Role of GUCA1C in Primary Congenital Glaucoma and in the Retina: Functional Evaluation in Zebrafish
Morales-Cámara S, Alexandre-Moreno S, Bonet-Fernández J, Atienzar-Aroca R, Aroca-Aguilar J, Ferre-Fernández J, Méndez C, Morales L, Fernández-Sánchez L, Cuenca N, Coca-Prados M, Martínez-de-la-Casa J, Garcia-Feijoo J, Escribano J. Role of GUCA1C in Primary Congenital Glaucoma and in the Retina: Functional Evaluation in Zebrafish. Genes 2020, 11: 550. PMID: 32422965, PMCID: PMC7288452, DOI: 10.3390/genes11050550.Peer-Reviewed Original ResearchMeSH KeywordsAdultAmino Acid SequenceAnimalsApoptosisBase SequenceCRISPR-Cas SystemsFemaleGene EditingGene Knockout TechniquesGlaucomaGliosisGuanylate Cyclase-Activating ProteinsHigh-Throughput Nucleotide SequencingHumansMaleMiddle AgedPedigreeRetinaReverse Transcriptase Polymerase Chain ReactionSequence AlignmentSequence Homology, Amino AcidZebrafishZebrafish ProteinsConceptsPrimary congenital glaucomaCongenital glaucomaRetinal ganglion cell layerRetinal ganglion cell apoptosisCiliary epitheliumGlial fibrillary acidic proteinWhole-exome sequencing analysisGanglion cell layerGanglion cell apoptosisHuman ocular ciliary epitheliumFibrillary acidic proteinOcular anterior segmentIntraocular pressure regulationOcular ciliary epitheliumNon-pigmented ciliary epitheliumAutosomal recessive fashionOptical neuropathyOcular effectsRetinal damageMüller cellsAnterior segmentPressure regulationAcidic proteinKnockout animalsGuanylate cyclase
2003
CRALBP transcriptional regulation in ciliary epithelial, retinal Müller and retinal pigment epithelial cells
Kennedy BN, Li C, Ortego J, Coca-Prados M, Sarthy VP, Crabb JW. CRALBP transcriptional regulation in ciliary epithelial, retinal Müller and retinal pigment epithelial cells. Experimental Eye Research 2003, 76: 257-260. PMID: 12565814, DOI: 10.1016/s0014-4835(02)00308-1.Peer-Reviewed Original ResearchConceptsTranscriptional regulationBinding Protein FunctionsCell-specific expressionPromoter analysisProtein functionRepressor elementEnhancer elementsPromoter constructsReporter activityRetinal pigment epithelial cellsPigment epithelial cellsCiliary epitheliumEpithelial cellsVisual cycleRPE cellsBPRegulationRetinal pigment epitheliumCellsMüller cellsGenesMutationsRLBP1 geneEpitheliumWildtype
2002
Adult-Onset Primary Open-Angle Glaucoma Caused by Mutations in Optineurin
Rezaie T, Child A, Hitchings R, Brice G, Miller L, Coca-Prados M, Héon E, Krupin T, Ritch R, Kreutzer D, Crick RP, Sarfarazi M. Adult-Onset Primary Open-Angle Glaucoma Caused by Mutations in Optineurin. Science 2002, 295: 1077-1079. PMID: 11834836, DOI: 10.1126/science.1066901.Peer-Reviewed Original ResearchMeSH KeywordsAdultAlternative SplicingAmino Acid SequenceBrainCell Cycle ProteinsChromosome MappingChromosomes, Human, Pair 10Ciliary BodyExonsEye ProteinsFemaleGlaucoma, Open-AngleGolgi ApparatusHeterozygoteHumansIntraocular PressureMaleMembrane Transport ProteinsMiddle AgedMutationMutation, MissenseNerve Tissue ProteinsOcular HypertensionPedigreePolymorphism, Single-Stranded ConformationalRetinaTrabecular MeshworkTranscription Factor TFIIIAZinc FingersConceptsPrimary open-angle glaucomaHereditary primary open-angle glaucomaNormal intraocular pressureOpen-angle glaucomaAdult-onset primary open-angle glaucomaNeuroprotective roleIntraocular pressureAngle glaucomaTumor necrosisLeading causeTrabecular meshworkOPTN geneCiliary epitheliumCausative genesGlaucomaChromosome 10p14OptineurinSequence alterationsNecrosisRetinaIndividualsBrainEpithelium
2001
Molecular Evidence That Human Ocular Ciliary Epithelium Expresses Components Involved in Phototransduction
Bertazolli-Filho R, Ghosh S, Huang W, Wollmann G, Coca-Prados M. Molecular Evidence That Human Ocular Ciliary Epithelium Expresses Components Involved in Phototransduction. Biochemical And Biophysical Research Communications 2001, 284: 317-325. PMID: 11394879, DOI: 10.1006/bbrc.2001.4970.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAntibodies, MonoclonalArrestinBlotting, WesternCalcium-Binding ProteinsCattleCell LineCiliary BodyCyclic Nucleotide-Gated Cation ChannelsEpithelial CellsEye ProteinsFluorescent Antibody Technique, IndirectG-Protein-Coupled Receptor Kinase 1HippocalcinHumansImmunoblottingImmunohistochemistryIon ChannelsLight Signal TransductionLipoproteinsNerve Tissue ProteinsPhosphoric Diester HydrolasesProtein KinasesProtein SubunitsRecoverinRetinaReverse Transcriptase Polymerase Chain ReactionRhodopsinRNA, MessengerSequence Analysis, DNATransducinConceptsHuman ocular ciliary epitheliumCiliary epitheliumOcular ciliary epitheliumNPE cellsCiliary epithelial cell linePars plicata regionIntact ciliary epitheliumWestern blot analysisCultured NPE cellsEpithelial cell lineExpression of rhodopsinIndirect immunofluorescenceVisual arrestinHuman retinaMonoclonal antibodiesHuman ciliary epitheliumThree- to fourfoldEpitheliumRT-PCRPhotoreceptor cellsRhodopsin mRNABlot analysisCell linesRetinaRhodopsin kinase
1998
Identification ofPKD2L,a HumanPKD2-Related Gene: Tissue-Specific Expression and Mapping to Chromosome 10q25
Wu G, Hayashi T, Park J, Dixit M, Reynolds D, Li L, Maeda Y, Cai Y, Coca-Prados M, Somlo S. Identification ofPKD2L,a HumanPKD2-Related Gene: Tissue-Specific Expression and Mapping to Chromosome 10q25. Genomics 1998, 54: 564-568. PMID: 9878261, DOI: 10.1006/geno.1998.5618.Peer-Reviewed Original ResearchAmino Acid SequenceBlotting, NorthernCalcium ChannelsChromosomes, Human, Pair 10Cloning, MolecularExpressed Sequence TagsGene Expression RegulationGenetic MarkersHumansLiverLiver DiseasesMembrane GlycoproteinsMembrane ProteinsMolecular Sequence DataOrgan SpecificityPhosphoproteinsPolycystic Kidney, Autosomal DominantPolymorphism, GeneticReceptors, Cell SurfaceRetinaSequence Homology, Amino AcidTissue DistributionTRPP Cation Channels
1996
Association of ClC-3 Channel with Cl− Transport by Human Nonpigmented Ciliary Epithelial Cells
Coca-Prados M, Sánchez-Torres J, Peterson-Yantorno K, Civan M. Association of ClC-3 Channel with Cl− Transport by Human Nonpigmented Ciliary Epithelial Cells. The Journal Of Membrane Biology 1996, 150: 197-208. PMID: 8661780, DOI: 10.1007/s002329900044.Peer-Reviewed Original Research
1994
Nucleotide sequence of a cDNA for the β2 subunit isoform of Na+, K+-ATPase from human retina
Hernando N, Martin-Vasallo P, Ghosh S, Ghosh P, Swaroop A, Coca-Prados M. Nucleotide sequence of a cDNA for the β2 subunit isoform of Na+, K+-ATPase from human retina. Biochimica Et Biophysica Acta 1994, 1189: 109-111. PMID: 8305453, DOI: 10.1016/0005-2736(94)90287-9.Peer-Reviewed Original Research