| http://purl.uniprot.org/citations/36251395 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/36251395 | http://www.w3.org/2000/01/rdf-schema#comment | "Here, we report the generation and comprehensive characterization of a knockin mouse model for the hotspot p.Arg87Cys variant of the cytoplasmic FMR1-interacting protein 2 (CYFIP2) gene, which was recently identified in individuals diagnosed with West syndrome, a developmental and epileptic encephalopathy. The Cyfip2+/R87C mice recapitulated many neurological and neurobehavioral phenotypes of the patients, including spasmlike movements, microcephaly, and impaired social communication. Age-progressive cytoarchitectural disorganization and gliosis were also identified in the hippocampus of Cyfip2+/R87C mice. Beyond identifying a decrease in CYFIP2 protein levels in the Cyfip2+/R87C brains, we demonstrated that the p.Arg87Cys variant enhances ubiquitination and proteasomal degradation of CYFIP2. ANN NEUROL 2023;93:155-163."xsd:string |
| http://purl.uniprot.org/citations/36251395 | http://purl.org/dc/terms/identifier | "doi:10.1002/ana.26535"xsd:string |
| http://purl.uniprot.org/citations/36251395 | http://purl.uniprot.org/core/author | "Kim E."xsd:string |
| http://purl.uniprot.org/citations/36251395 | http://purl.uniprot.org/core/author | "Kim Y."xsd:string |
| http://purl.uniprot.org/citations/36251395 | http://purl.uniprot.org/core/author | "Han K."xsd:string |
| http://purl.uniprot.org/citations/36251395 | http://purl.uniprot.org/core/author | "Li H."xsd:string |
| http://purl.uniprot.org/citations/36251395 | http://purl.uniprot.org/core/author | "Lee S."xsd:string |
| http://purl.uniprot.org/citations/36251395 | http://purl.uniprot.org/core/author | "Kang M."xsd:string |
| http://purl.uniprot.org/citations/36251395 | http://purl.uniprot.org/core/author | "Lee D."xsd:string |
| http://purl.uniprot.org/citations/36251395 | http://purl.uniprot.org/core/author | "Kim S."xsd:string |
| http://purl.uniprot.org/citations/36251395 | http://purl.uniprot.org/core/author | "Zhang Y."xsd:string |
| http://purl.uniprot.org/citations/36251395 | http://purl.uniprot.org/core/author | "Jin C."xsd:string |
| http://purl.uniprot.org/citations/36251395 | http://purl.uniprot.org/core/author | "Kang H.R."xsd:string |
| http://purl.uniprot.org/citations/36251395 | http://purl.uniprot.org/core/author | "Yi Y."xsd:string |
| http://purl.uniprot.org/citations/36251395 | http://purl.uniprot.org/core/author | "Ma R."xsd:string |
| http://purl.uniprot.org/citations/36251395 | http://purl.uniprot.org/core/date | "2023"xsd:gYear |
| http://purl.uniprot.org/citations/36251395 | http://purl.uniprot.org/core/name | "Ann Neurol"xsd:string |
| http://purl.uniprot.org/citations/36251395 | http://purl.uniprot.org/core/pages | "155-163"xsd:string |
| http://purl.uniprot.org/citations/36251395 | http://purl.uniprot.org/core/title | "CYFIP2 p.Arg87Cys Causes Neurological Defects and Degradation of CYFIP2."xsd:string |
| http://purl.uniprot.org/citations/36251395 | http://purl.uniprot.org/core/volume | "93"xsd:string |
| http://purl.uniprot.org/citations/36251395 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/36251395 |
| http://purl.uniprot.org/citations/36251395 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/36251395 |
| http://purl.uniprot.org/uniprot/#_F7C3H9-mappedCitation-36251395 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/36251395 |
| http://purl.uniprot.org/uniprot/#_F6QD74-mappedCitation-36251395 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/36251395 |