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.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Animals
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Antipsychotic Agents / therapeutic use
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Disease Models, Animal
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Drosophila melanogaster
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Fragile X Mental Retardation Protein / genetics
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Fragile X Mental Retardation Protein / metabolism
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Fragile X Syndrome / genetics*
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Fragile X Syndrome / therapy
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Humans
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Hypothalamo-Hypophyseal System / physiology
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Mice
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Pituitary-Adrenal System / physiology
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Receptors, GABA-A / drug effects
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Receptors, GABA-A / physiology
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Receptors, Metabotropic Glutamate / drug effects
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Receptors, Metabotropic Glutamate / physiology
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Zebrafish
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rho GTP-Binding Proteins / physiology
Substances
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Antipsychotic Agents
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Receptors, GABA-A
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Receptors, Metabotropic Glutamate
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Fragile X Mental Retardation Protein
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rho GTP-Binding Proteins