| Fragile X syndrome: from molecular genetics to therapy. | |
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MedLine Citation:
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PMID: 19724010 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Fragile X syndrome, the main cause of inherited mental retardation, is caused by transcriptional silencing of the fragile X mental retardation gene, FMR1. Absence of the associated protein FMRP leads to the dysregulation of many genes creating a phenotype of ADHD, anxiety, epilepsy and autism. The core aim of this review is to summarise two decades of molecular research leading to the characterisation of cellular and molecular pathways involved in the pathology of this disease and as a consequence to the identification of two new promising targets for rational therapy of fragile X syndrome, namely the group 1 metabotrope glutamate receptors (Gp1 mGluRs) and the gamma-amino butyric acid A receptors (GABA(A)Rs). As no current clinical treatments are directed specifically at the underlying neuronal defect due to absence of FMRP, this might open new powerful therapeutic strategies. |
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Authors:
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C D'Hulst; R F Kooy |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
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Title: Journal of medical genetics Volume: 46 ISSN: 1468-6244 ISO Abbreviation: J. Med. Genet. Publication Date: 2009 Sep |
Date Detail:
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Created Date: 2009-09-02 Completed Date: 2009-12-31 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 2985087R Medline TA: J Med Genet Country: England |
Other Details:
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Languages: eng Pagination: 577-84 Citation Subset: IM |
Affiliation:
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Department of Medical Genetics, University of Antwerp, Antwerp, Belgium. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Animals Fragile X Mental Retardation Protein / chemistry, genetics, metabolism Fragile X Syndrome / genetics*, metabolism, therapy* Humans |
| Chemical | |
Reg. No./Substance:
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139135-51-6/Fragile X Mental Retardation Protein |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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