| http://purl.uniprot.org/citations/28173139 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/28173139 | http://www.w3.org/2000/01/rdf-schema#comment | "ATRX is a chromatin remodeling protein that is mutated in several intellectual disability disorders including alpha-thalassemia/mental retardation, X-linked (ATR-X) syndrome. We previously reported the prevalence of ophthalmological defects in ATR-X syndrome patients, and accordingly we find morphological and functional visual abnormalities in a mouse model harboring a mutation occurring in ATR-X patients. The visual system abnormalities observed in these mice parallels the Atrx-null retinal phenotype characterized by interneuron defects and selective loss of amacrine and horizontal cells. The mechanisms that underlie selective neuronal vulnerability and neurodegeneration in the central nervous system upon Atrx mutation or deletion are unknown. To interrogate the cellular specificity of Atrx for its retinal neuroprotective functions, we employed a combination of temporal and lineage-restricted conditional ablation strategies to generate five different conditional knockout mouse models, and subsequently identified a non-cell-autonomous requirement for Atrx in bipolar cells for inhibitory interneuron survival in the retina. Atrx-deficient retinal bipolar cells exhibit functional, structural and molecular alterations consistent with impairments in neuronal activity and connectivity. Gene expression changes in the Atrx-null retina indicate defective synaptic structure and neuronal circuitry, suggest excitotoxic mechanisms of neurodegeneration, and demonstrate that common targets of ATRX in the forebrain and retina may contribute to similar neuropathological processes underlying cognitive impairment and visual dysfunction in ATR-X syndrome."xsd:string |
| http://purl.uniprot.org/citations/28173139 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/ddw306"xsd:string |
| http://purl.uniprot.org/citations/28173139 | http://purl.uniprot.org/core/author | "Yan K."xsd:string |
| http://purl.uniprot.org/citations/28173139 | http://purl.uniprot.org/core/author | "Picketts D.J."xsd:string |
| http://purl.uniprot.org/citations/28173139 | http://purl.uniprot.org/core/author | "Lagali P.S."xsd:string |
| http://purl.uniprot.org/citations/28173139 | http://purl.uniprot.org/core/author | "Tsilfidis C."xsd:string |
| http://purl.uniprot.org/citations/28173139 | http://purl.uniprot.org/core/author | "Wallace V.A."xsd:string |
| http://purl.uniprot.org/citations/28173139 | http://purl.uniprot.org/core/author | "Zhao B.Y."xsd:string |
| http://purl.uniprot.org/citations/28173139 | http://purl.uniprot.org/core/author | "Baker A.N."xsd:string |
| http://purl.uniprot.org/citations/28173139 | http://purl.uniprot.org/core/author | "Coupland S.G."xsd:string |
| http://purl.uniprot.org/citations/28173139 | http://purl.uniprot.org/core/author | "Medina C.F."xsd:string |
| http://purl.uniprot.org/citations/28173139 | http://purl.uniprot.org/core/date | "2016"xsd:gYear |
| http://purl.uniprot.org/citations/28173139 | http://purl.uniprot.org/core/name | "Hum Mol Genet"xsd:string |
| http://purl.uniprot.org/citations/28173139 | http://purl.uniprot.org/core/pages | "4787-4803"xsd:string |
| http://purl.uniprot.org/citations/28173139 | http://purl.uniprot.org/core/title | "Retinal interneuron survival requires non-cell-autonomous Atrx activity."xsd:string |
| http://purl.uniprot.org/citations/28173139 | http://purl.uniprot.org/core/volume | "25"xsd:string |
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