| http://purl.uniprot.org/citations/34772697 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/34772697 | http://www.w3.org/2000/01/rdf-schema#comment | "Aicardi-Goutières syndrome (AGS) is a congenital inflammatory disorder accompanied by overactivated type I IFN signaling and encephalopathy with leukodystrophy and intracranial calcification. To date, none of the mouse models carrying an AGS-causative mutation has mimicked such brain pathology. Here, we established a mutant mouse model carrying a K948N point mutation, corresponding to an AGS-causative K999N mutation, located in a deaminase domain of the Adar1 gene that encodes an RNA editing enzyme. Adar1K948N/K948N mice displayed postnatal growth retardation. Hyperplasia of splenic white pulps with germinal centers and hepatic focal inflammation were observed from 2 mo of age. Inflammation developed in the lungs and heart with lymphocyte infiltration in an age-dependent manner. Furthermore, white matter abnormalities with astrocytosis and microgliosis were detected at 1 y of age. The increased expression of IFN-stimulated genes was detected in multiple organs, including the brain, from birth. In addition, single-nucleus RNA sequencing revealed that this elevated expression of IFN-stimulated genes was commonly observed in all neuronal subtypes, including neurons, oligodendrocytes, and astrocytes. We further showed that a K948N point mutation reduced the RNA editing activity of ADAR1 in vivo. The pathological abnormalities found in Adar1K948N/K948N mice were ameliorated by either the concurrent deletion of MDA5, a cytosolic sensor of unedited transcripts, or the sole expression of active ADAR1 p150, an isoform of ADAR1. Collectively, such data suggest that although the degree is mild, Adar1K948N/K948N mice mimic multiple AGS phenotypes, including encephalopathy, which is caused by reduced RNA editing activity of the ADAR1 p150 isoform."xsd:string |
| http://purl.uniprot.org/citations/34772697 | http://purl.org/dc/terms/identifier | "doi:10.4049/jimmunol.2100526"xsd:string |
| http://purl.uniprot.org/citations/34772697 | http://purl.uniprot.org/core/author | "Kato Y."xsd:string |
| http://purl.uniprot.org/citations/34772697 | http://purl.uniprot.org/core/author | "Kawahara Y."xsd:string |
| http://purl.uniprot.org/citations/34772697 | http://purl.uniprot.org/core/author | "Inoue M."xsd:string |
| http://purl.uniprot.org/citations/34772697 | http://purl.uniprot.org/core/author | "Xing Y."xsd:string |
| http://purl.uniprot.org/citations/34772697 | http://purl.uniprot.org/core/author | "Kim J.I."xsd:string |
| http://purl.uniprot.org/citations/34772697 | http://purl.uniprot.org/core/author | "Shibuya T."xsd:string |
| http://purl.uniprot.org/citations/34772697 | http://purl.uniprot.org/core/author | "Nakahama T."xsd:string |
| http://purl.uniprot.org/citations/34772697 | http://purl.uniprot.org/core/author | "Yamasaki R."xsd:string |
| http://purl.uniprot.org/citations/34772697 | http://purl.uniprot.org/core/author | "Morii E."xsd:string |
| http://purl.uniprot.org/citations/34772697 | http://purl.uniprot.org/core/author | "Todo H."xsd:string |
| http://purl.uniprot.org/citations/34772697 | http://purl.uniprot.org/core/date | "2021"xsd:gYear |
| http://purl.uniprot.org/citations/34772697 | http://purl.uniprot.org/core/name | "J Immunol"xsd:string |
| http://purl.uniprot.org/citations/34772697 | http://purl.uniprot.org/core/pages | "3016-3027"xsd:string |
| http://purl.uniprot.org/citations/34772697 | http://purl.uniprot.org/core/title | "An Aicardi-Goutieres Syndrome-Causative Point Mutation in Adar1 Gene Invokes Multiorgan Inflammation and Late-Onset Encephalopathy in Mice."xsd:string |
| http://purl.uniprot.org/citations/34772697 | http://purl.uniprot.org/core/volume | "207"xsd:string |
| http://purl.uniprot.org/citations/34772697 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/34772697 |
| http://purl.uniprot.org/citations/34772697 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/34772697 |
| http://purl.uniprot.org/uniprot/#_A2IBT3-mappedCitation-34772697 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/34772697 |
| http://purl.uniprot.org/uniprot/#_D2CGM4-mappedCitation-34772697 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/34772697 |
| http://purl.uniprot.org/uniprot/#_D2CGM5-mappedCitation-34772697 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/34772697 |
| http://purl.uniprot.org/uniprot/#_Q3U0Y5-mappedCitation-34772697 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/34772697 |
| http://purl.uniprot.org/uniprot/#_Q3UE16-mappedCitation-34772697 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/34772697 |