Independent role for presynaptic FMRP revealed by an FMR1 missense mutation associated with intellectual disability and seizures

Fragile X syndrome (FXS) results in intellectual disability (ID) most often caused by silencing of the fragile X mental retardation 1 (FMR1) gene. The resulting absence of fragile X mental retardation protein 1 (FMRP) leads to both pre- and postsynaptic defects, yet whether the pre- and postsynaptic...

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Udgivet i:Proc Natl Acad Sci U S A
Main Authors: Myrick, Leila K., Deng, Pan-Yue, Hashimoto, Hideharu, Oh, Young Mi, Cho, Yongcheol, Poidevin, Mickael J., Suhl, Joshua A., Visootsak, Jeannie, Cavalli, Valeria, Jin, Peng, Cheng, Xiaodong, Warren, Stephen T., Klyachko, Vitaly A.
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 2015
Fag:
Biological Sciences
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4313821/
https://ncbi.nlm.nih.gov/pubmed/25561520
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1423094112
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