Fragile X Syndrome: From Molecular Mechanisms to Therapeutic Approaches

Dear Colleagues,

This Special Issue will cover all aspects of the molecular and cellular mechanisms leading to neuropathology in fragile X syndrome. Since the discovery of the FMR1 gene more than 30 years ago and the establishment of different research models from knockout mice to induced pluripotent stem cells derived from patients, the understanding of FXS has advanced remarkably. Insights into the molecular and cellular abnormalities in FX neurons and their synaptic connections have led to the identification of key players that can be targeted by drugs and other therapeutics, some of them even resulting in experimental clinical trials seeking to ameliorate or even correct functional deficits in FXS patients.

However, critical questions about the role of FMRP in neural tissue remain unanswered: what are the most important targets of FMRP that react to its disappearance and are responsible to downstream detrimental effects? What aspects of neuronal plasticity are most affected by lack of FMRP and how are they manifested during embryonic development and adult life? What type of neuronal and synaptic deficits caused by absence of FMRP are reversible and what strategies could be used to promote reversibility?

We invite authors to submit details of their research focused on these and other open questions as original research articles or literature reviews.

Prof. Dr. Menahem Segal
Dr. Telias Michael
Guest Editors

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