Search

Your search keyword '"Jin, Chunmei"' showing total 4 results
Start Over Author "Jin, Chunmei" Journal annals of neurology
4 results on '"Jin, Chunmei"'

1. CYFIP2p. Arg87Cys Causes Neurological Defects and Degradation of CYFIP2

Author

Kang, Muwon, primary, Zhang, Yinhua, additional, Kang, Hyae Rim, additional, Kim, Seoyeong, additional, Ma, Ruiying, additional, Yi, Yunho, additional, Lee, Seungjoon, additional, Kim, Yoonhee, additional, Li, Huiling, additional, Jin, Chunmei, additional, Lee, Dongmin, additional, Kim, Eunjoon, additional, and Han, Kihoon, additional

Published
2022
Full Text
View/download PDF

2. CYFIP2 p.Arg87Cys Causes Neurological Defects and Degradation of CYFIP2.

Author

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, and Han, Kihoon

Subjects
LABORATORY mice, UBIQUITINATION, ANIMAL disease models, GLIOSIS, EPILEPSY, BRAIN diseases
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 2023;93:155–163 [ABSTRACT FROM AUTHOR]

Published
2023
Full Text
View/download PDF

3. Haploinsufficiency of Cyfip2 Causes Lithium‐Responsive Prefrontal Dysfunction

Author

Lee, Seung‐Hyun, primary, Zhang, Yinhua, additional, Park, Jina, additional, Kim, Bowon, additional, Kim, Yangsik, additional, Lee, Sang Hoon, additional, Kim, Gyu Hyun, additional, Huh, Yang Hoon, additional, Lee, Bokyoung, additional, Kim, Yoonhee, additional, Lee, Yeunkum, additional, Kim, Jin Yong, additional, Kang, Hyojin, additional, Choi, Su‐Yeon, additional, Jang, Seil, additional, Li, Yan, additional, Kim, Shinhyun, additional, Jin, Chunmei, additional, Pang, Kaifang, additional, Kim, Eunjeong, additional, Lee, Yoontae, additional, Kim, Hyun, additional, Kim, Eunjoon, additional, Choi, Jee Hyun, additional, Kim, Jeongjin, additional, Lee, Kea Joo, additional, Choi, Se‐Young, additional, and Han, Kihoon, additional

Published
2020
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results