Mechanisms Driving the Emergence of Neuronal Hyperexcitability in Fragile X Syndrome.
Mechanisms Driving the Emergence of Neuronal Hyperexcitability in Fragile X Syndrome.
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DOI：
10.3390/ijms23116315
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发表时间：
2022-06-05
影响因子：
5.6
通讯作者：
Bassell, Gary J.
中科院分区：
文献类型：
--
作者：
Bulow, Pernille;Segal, Menahem;Bassell, Gary J.
关键词：
Hyperexcitability is a shared neurophysiological phenotype across various genetic neurodevelopmental disorders, including Fragile X syndrome (FXS). Several patient symptoms are associated with hyperexcitability, but a puzzling feature is that their onset is often delayed until their second and third year of life. It remains unclear how and why hyperexcitability emerges in neurodevelopmental disorders. FXS is caused by the loss of FMRP, an RNA-binding protein which has many critical roles including protein synthesis-dependent and independent regulation of ion channels and receptors, as well as global regulation of protein synthesis. Here, we discussed recent literature uncovering novel mechanisms that may drive the progressive onset of hyperexcitability in the FXS brain. We discussed in detail how recent publications have highlighted defects in homeostatic plasticity, providing new insight on the FXS brain and suggest pharmacotherapeutic strategies in FXS and other neurodevelopmental disorders.
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影响因子：
16.2
作者：
Bergquist, Sharon;Dickman, Dion K.;Davis, Graeme W.
通讯作者：
Davis, Graeme W.
影响因子：
5.5
作者：
Bülow P;Wenner PA;Faundez V;Bassell GJ
通讯作者：
Bassell GJ
影响因子：
4.6
作者：
Berzhanskaya J;Phillips MA;Shen J;Colonnese MT
通讯作者：
Colonnese MT
影响因子：
3.6
作者：
Bülow P;Zlatic SA;Wenner PA;Bassell GJ;Faundez V
通讯作者：
Faundez V
DOI：
10.1523/jneurosci.3077-12.2012
发表时间：
2012-09-26
期刊：
The Journal of neuroscience : the official journal of the Society for Neuroscience
影响因子：
--
作者：
Blackman MP;Djukic B;Nelson SB;Turrigiano GG
通讯作者：
Turrigiano GG