2021
Altered transcriptome and disease-related phenotype emerge only after fibroblasts harvested from patients with age-related macular degeneration are differentiated into retinal pigment epithelium
Cai H, Gong J, Team N, Noggle S, Paull D, Rizzolo LJ, Del Priore LV, Fields MA. Altered transcriptome and disease-related phenotype emerge only after fibroblasts harvested from patients with age-related macular degeneration are differentiated into retinal pigment epithelium. Experimental Eye Research 2021, 207: 108576. PMID: 33895162, DOI: 10.1016/j.exer.2021.108576.Peer-Reviewed Original ResearchConceptsAge-related macular degenerationRetinal pigment epitheliumMacular degenerationPigment epitheliumInduced pluripotent stem cellsEtiology of AMDMitochondrial dysfunctionAge-matched controlsNovel therapeutic targetTranscriptome of fibroblastsAMD patientsNormal donorsFibroblasts of patientsTherapeutic targetPatientsMore studiesAltered transcriptomeDisease phenotypeSignificant differencesCell linesMitochondrial functionDysfunctionOriginal fibroblastsDistinct transcriptomesDegeneration
2019
Disease-associated mutations of claudin-19 disrupt retinal neurogenesis and visual function
Wang SB, Xu T, Peng S, Singh D, Ghiassi-Nejad M, Adelman RA, Rizzolo LJ. Disease-associated mutations of claudin-19 disrupt retinal neurogenesis and visual function. Communications Biology 2019, 2: 113. PMID: 30937396, PMCID: PMC6433901, DOI: 10.1038/s42003-019-0355-0.Peer-Reviewed Original ResearchConceptsRetinal pigment epitheliumClaudin-19Retinal neurogenesisP1 waveOuter nuclear layerRPE signature genesARPE19 cell lineOcular involvementKidney diseaseVisual functionFamilial hypomagnesaemiaNuclear layerBipolar cellsNewborn miceOcular diseasesPigment epitheliumRetinal isomeraseDiseaseMiceHuman induced pluripotent cellsRetinal differentiationSignature genesCell linesNeurogenesisInduced pluripotent cells