title: Translating molecular advances in fragile X syndrome into therapy: a review.
abstract: Fragile X syndrome is an inherited disease with cognitive, behavioral, and neurologic manifestations, resulting from a single genetic mutation. A variety of treatments that target individual symptoms of fragile X syndrome are currently utilized with limited efficacy. Research in animal models has resulted in the development of potential novel pharmacologic treatments that target the underlying molecular defect in fragile X syndrome, rather than the resultant symptoms. This review describes recent advances in our understanding of the molecular basis of fragile X syndrome and summarizes the ongoing clinical research programs.
authors.affiliation: Department of Pediatrics and MIND Institute, School of Medicine, University of California, Davis.
authors.forename: Randi J
authors.initials: RJ
authors.lastname: Hagerman
authors.forename: Vincent
authors.initials: V
authors.lastname: Des-Portes
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Gasparini
authors.forename: Sébastien
authors.initials: S
authors.lastname: Jacquemont
authors.forename: Baltazar
authors.initials: B
authors.lastname: Gomez-Mancilla
mesh_terms: D000818:Animals; D035843:Biomedical Research; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics; D005600:Fragile X Syndrome / Q000188:drug therapy / Q000209:etiology* / Q000235:genetics; D006801:Humans; D051379:Mice; D018345:Mice, Knockout / Q000235:genetics; D064529:Receptor, Metabotropic Glutamate 5 / Q000187:drug effects / Q000235:genetics / Q000378:metabolism; D018079:Receptors, GABA / Q000187:drug effects / Q000378:metabolism
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; D064529:Receptor, Metabotropic Glutamate 5; D018079:Receptors, GABA; C497684:Fmr1 protein, mouse