title: Fragile X syndrome: from gene discovery to therapy.
abstract: A dynamic mutation in the fragile X mental retardation 1 gene, FMR1, was found to cause fragile X syndrome almost 20 years ago. Since, a wealth of information regarding the function of the gene has been gathered. It plays a role in RNA transport and stability and RNA-binding influences the function of a multitude of other genes. In this review, we focus on the recent knowledge of molecular and biochemical pathways shown to be relevant in the fragile X syndrome and how these insights have led to a first series of clinical trials in fragile X patients.
authors.affiliation: Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
authors.forename: Inge
authors.initials: I
authors.lastname: Heulens
authors.forename: Frank
authors.initials: F
authors.lastname: Kooy
mesh_terms: D000818:Animals; D014150:Antipsychotic Agents / Q000627:therapeutic use; D004195:Disease Models, Animal; D004331:Drosophila melanogaster; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics / Q000378:metabolism; D005600:Fragile X Syndrome / Q000235:genetics* / Q000628:therapy; D006801:Humans; D007030:Hypothalamo-Hypophyseal System / Q000502:physiology; D051379:Mice; D010913:Pituitary-Adrenal System / Q000502:physiology; D011963:Receptors, GABA-A / Q000187:drug effects / Q000502:physiology; D018094:Receptors, Metabotropic Glutamate / Q000187:drug effects / Q000502:physiology; D015027:Zebrafish; D020741:rho GTP-Binding Proteins / Q000502:physiology
chemical_list: D014150:Antipsychotic Agents; D051860:Fragile X Messenger Ribonucleoprotein 1; D011963:Receptors, GABA-A; D018094:Receptors, Metabotropic Glutamate; D020741:rho GTP-Binding Proteins