Fragile X syndrome View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2017-09-29

AUTHORS

Randi J Hagerman, Elizabeth Berry-Kravis, Heather Cody Hazlett, Donald B Bailey, Herve Moine, R Frank Kooy, Flora Tassone, Ilse Gantois, Nahum Sonenberg, Jean Louis Mandel, Paul J Hagerman

ABSTRACT

Fragile X syndrome (FXS) is the leading inherited form of intellectual disability and autism spectrum disorder, and patients can present with severe behavioural alterations, including hyperactivity, impulsivity and anxiety, in addition to poor language development and seizures. FXS is a trinucleotide repeat disorder, in which >200 repeats of the CGG motif in FMR1 leads to silencing of the gene and the consequent loss of its product, fragile X mental retardation 1 protein (FMRP). FMRP has a central role in gene expression and regulates the translation of potentially hundreds of mRNAs, many of which are involved in the development and maintenance of neuronal synaptic connections. Indeed, disturbances in neuroplasticity is a key finding in FXS animal models, and an imbalance in inhibitory and excitatory neuronal circuits is believed to underlie many of the clinical manifestations of this disorder. Our knowledge of the proteins that are regulated by FMRP is rapidly growing, and this has led to the identification of multiple targets for therapeutic intervention, some of which have already moved into clinical trials or clinical practice. More... »

PAGES

nrdp201765

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    URI

    http://scigraph.springernature.com/pub.10.1038/nrdp.2017.65

    DOI

    http://dx.doi.org/10.1038/nrdp.2017.65

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1091983484

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/28960184


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