CYFIP2 p.Arg87Cys Causes Neurological Defects and Degradation of CYFIP2
- Authors
- Kang, Muwon; Zhang, Yinhua; Kang, Hyae Rim; Kim, Seoyeong; Ma, Ruiying; Yi, Yunho; Lee, Seungjoon; Kim, Yoonhee; Li, Huiling; Jin, Chunmei; Lee, Dongmin; Kim, Eunjoon; Han, Kihoon
- Issue Date
- 2022
- Publisher
- WILEY
- Citation
- ANNALS OF NEUROLOGY
- Indexed
- SCIE
SCOPUS
- Journal Title
- ANNALS OF NEUROLOGY
- URI
- https://scholar.korea.ac.kr/handle/2021.sw.korea/145588
- DOI
- 10.1002/ana.26535
- ISSN
- 0364-5134
- 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
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Collections - Graduate School > Department of Biomedical Sciences > 1. Journal Articles
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