<scp> <i>CYFIP2</i> </scp> p. <scp>Arg87Cys</scp> Causes Neurological Defects and Degradation of <scp>CYFIP2</scp>-Reference-Cited by-同舟云学术

CYFIP2 p. Arg87Cys Causes Neurological Defects and Degradation of CYFIP2

Published:2022-10-26 Issue:1 Volume:93 Page:155-163
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Annals of Neurology

Author:

Kang Muwon¹²,Zhang Yinhua³,Kang Hyae Rim³⁴,Kim Seoyeong¹²,Ma Ruiying³⁴,Yi Yunho¹,Lee Seungjoon²,Kim Yoonhee³,Li Huiling³⁴,Jin Chunmei³⁴,Lee Dongmin⁴⁵,Kim Eunjoon¹²,Han Kihoon³⁴^ORCID

Affiliation:

1. Department of Biological Sciences Korea Advanced Institute of Science and Technology Daejeon Republic of Korea

2. Center for Synaptic Brain Dysfunctions Institute for Basic Science Daejeon Republic of Korea

3. Department of Neuroscience Korea University College of Medicine Seoul Republic of Korea

4. Department of Biomedical Sciences Korea University College of Medicine Seoul Republic of Korea

5. Department of Anatomy Korea University College of Medicine Seoul Republic of Korea

Funder

Institute for Basic Science

Korea University

National Research Foundation of Korea

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.26535

Reference20 articles.

1. De novo hotspot variants in CYFIP2 cause early‐onset epileptic encephalopathy

2. Novel West syndrome candidate genes in a Chinese cohort

3. Early diagnosis improving the outcome of an infant with epileptic encephalopathy with cytoplasmic FMRP interacting protein 2 mutation

4. Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

5. New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

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1. Neurodevelopmental disorder-associated CYFIP2 regulates membraneless organelles and eIF2α phosphorylation via protein interactors and actin cytoskeleton;Human Molecular Genetics;2024-07-09

2. Cell-autonomous reduction of CYFIP2 changes dendrite length, dendritic protrusion morphology, and inhibitory synapse density in the hippocampal CA1 pyramidal neurons of 17-month-old mice;Animal Cells and Systems;2024-05-31

3. The mutated cytoplasmic fragile X messenger ribonucleoprotein 1 (FMR1)‐interacting protein 2 (CYFIP2 S968F) regulates cocaine‐induced reward behaviour and plasticity in the nucleus accumbens;British Journal of Pharmacology;2024-05-15

4. Genetic background determines synaptic phenotypes in Arid1b-mutant mice;Frontiers in Psychiatry;2024-03-07

5. Generation of an induced pluripotent stem cell line from a patient with epileptic encephalopathy caused by the CYFIP2 R87C variant;Human Cell;2023-08-30