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Cited by 17Genetics and Neurodevelopmental DisordersGenomics and Rare DiseasesRNA Research and Splicing

Reduced CYFIP2 Stability by Arg87 Variants Causing Human Neurological Disorders

Lee, Yeunkum, Zhang, Yinhua, Ryu, Jae Ryun, Kang, Hyae Rim, Kim, Doyoun, Jin, Chunmei, Kim, Yoonhee, Sun, Woong +1 more·2019·Annals of Neurology
DOI 10.1002/ana.25598
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Crossref · 10.1002/ana.25598

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  • The loss-of-function mechanism of CYFIP2 was further supported by the finding of protein instability of CYFIP2 variants in cells and in the brain.

    “However, the LoF mechanism of CYFIP2 was further supported by the finding of protein instability of CYFIP2 variants in cells119 and in the brain120.”

    From The WAVE complex in developmental and adulthood brain disorders (2025) · cites this paper as [119]

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Authors
Lee, Y., Zhang, Y., Ryu, J. R., Kang, H. R., Kim, D., Jin, C., Kim, Y., Sun, W., & Han, K.
Affiliations
  • Korea University (KR)
  • Korea Research Institute of Chemical Technology (KR)
ORCID
Venue
Annals of Neurology
Publisher
Wiley
Published
2019-10-04
Volume
86
Issue
5
Pages
803-805
ISSN
  • 0364-5134 (ISSN-L)
  • 1531-8249
DOI
10.1002/ana.25598
OpenAlex
W2972334418
Cited by
17
References
0
Citations by year
2026: 1 · 2025: 3 · 2024: 2 · 2023: 1 · 2022: 4 · 2021: 1 · 2020: 4
Type
journal article
Language
en
Open access
closed
Licence
onlinelibrary.wiley.com/termsAndConditions#vor (vor)
Locations
  • Annals of Neurology (publishedVersion)
  • PubMed (publishedVersion)
Funders
National Research Foundation of Korea (NRF‐2015M3C7A1028790, NRF‐2018R1C1B6001235, NRF‐2018M3C7A1024603)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Research and Splicing
Keywords
CYFIP2, protein stability, nonsense mutation, neurological disorders, neurodegeneration, protein degradation
MeSH terms
Epilepsy, Generalized, Humans, Nervous System Diseases, Fragile X Messenger Ribonucleoprotein 1

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