Ontology highlight
ABSTRACT:
SUBMITTER: Jacquemont S
PROVIDER: S-EPMC5985734 | biostudies-literature | 2018 Jun
REPOSITORIES: biostudies-literature
Jacquemont Sébastien S Pacini Laura L Jønch Aia E AE Cencelli Giulia G Rozenberg Izabela I He Yunsheng Y D'Andrea Laura L Pedini Giorgia G Eldeeb Marwa M Willemsen Rob R Gasparini Fabrizio F Tassone Flora F Hagerman Randi R Gomez-Mancilla Baltazar B Bagni Claudia C
Human molecular genetics 20180601 12
Fragile X syndrome (FXS) is a monogenic form of intellectual disability and autism spectrum disorder caused by the absence of the fragile X mental retardation protein (FMRP). In biological models for the disease, this leads to upregulated mRNA translation and as a consequence, deficits in synaptic architecture and plasticity. Preclinical studies revealed that pharmacological interventions restore those deficits, which are thought to mediate the FXS cognitive and behavioral symptoms. Here, we cha ...[more]