DC Field | Value | Language |
---|---|---|
dc.contributor.author | Kang, Muwon | ko |
dc.contributor.author | Zhang, Yinhua | ko |
dc.contributor.author | Kang, Hyae Rim | ko |
dc.contributor.author | Kim, Seoyeong | ko |
dc.contributor.author | Ma, Ruiying | ko |
dc.contributor.author | Yi, Yunho | ko |
dc.contributor.author | Lee, Seungjoon | ko |
dc.contributor.author | Kim, Yoonhee | ko |
dc.contributor.author | Li, Huiling | ko |
dc.contributor.author | Jin, Chunmei | ko |
dc.contributor.author | Lee, Dongmin | ko |
dc.contributor.author | Kim, Eunjoon | ko |
dc.contributor.author | Han, Kihoon | ko |
dc.date.accessioned | 2023-01-28T04:02:34Z | - |
dc.date.available | 2023-01-28T04:02:34Z | - |
dc.date.created | 2022-11-07 | - |
dc.date.issued | 2023-01 | - |
dc.identifier.citation | ANNALS OF NEUROLOGY, v.93, no.1, pp.155 - 163 | - |
dc.identifier.issn | 0364-5134 | - |
dc.identifier.uri | http://hdl.handle.net/10203/304780 | - |
dc.description.abstract | 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 2022 | - |
dc.language | English | - |
dc.publisher | WILEY | - |
dc.title | CYFIP2 p.Arg87Cys Causes Neurological Defects and Degradation of CYFIP2 | - |
dc.type | Article | - |
dc.identifier.wosid | 000871929300001 | - |
dc.identifier.scopusid | 2-s2.0-85140730095 | - |
dc.type.rims | ART | - |
dc.citation.volume | 93 | - |
dc.citation.issue | 1 | - |
dc.citation.beginningpage | 155 | - |
dc.citation.endingpage | 163 | - |
dc.citation.publicationname | ANNALS OF NEUROLOGY | - |
dc.identifier.doi | 10.1002/ana.26535 | - |
dc.contributor.localauthor | Kim, Eunjoon | - |
dc.contributor.nonIdAuthor | Zhang, Yinhua | - |
dc.contributor.nonIdAuthor | Kang, Hyae Rim | - |
dc.contributor.nonIdAuthor | Ma, Ruiying | - |
dc.contributor.nonIdAuthor | Yi, Yunho | - |
dc.contributor.nonIdAuthor | Lee, Seungjoon | - |
dc.contributor.nonIdAuthor | Kim, Yoonhee | - |
dc.contributor.nonIdAuthor | Li, Huiling | - |
dc.contributor.nonIdAuthor | Jin, Chunmei | - |
dc.contributor.nonIdAuthor | Lee, Dongmin | - |
dc.contributor.nonIdAuthor | Han, Kihoon | - |
dc.description.isOpenAccess | N | - |
dc.type.journalArticle | Article | - |
dc.subject.keywordPlus | PARVALBUMIN | - |
dc.subject.keywordPlus | EPILEPSY | - |
dc.subject.keywordPlus | NEURONS | - |
dc.subject.keywordPlus | LEADS | - |
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