| The developmental roles of FMRP. | |
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MedLine Citation:
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PMID: 20298211 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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FXS (Fragile X syndrome) is the most common genetically inherited form of cognitive impairment. The predominant cause of the syndrome is the loss of a single protein, FMRP (Fragile X mental retardation protein). Many of the cognitive and behavioural features found in Fragile X individuals emerge during childhood and are associated with abnormal organization of cortical connections. However, although FMRP is expressed as early as embryogenesis, relatively little is known about its roles during development or how this may influence FXS phenotypes in adulthood. The present review focuses specifically on the evidence for the functions of FMRP during embryonic and early postnatal development. The current knowledge of the role of FMRP in FXS will be briefly summarized before addressing how alterations in the formation and refinement of neuronal connections and synaptic function that result from the loss of FMRP may in turn influence behaviours that are expressed during the first few postnatal weeks. I will then briefly highlight some outstanding questions about the developmental roles of FMRP and their possible relationship to symptoms found in adults with FXS. |
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Authors:
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Sally M Till |
Publication Detail:
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Type: Journal Article; Review |
Journal Detail:
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Title: Biochemical Society transactions Volume: 38 ISSN: 1470-8752 ISO Abbreviation: Biochem. Soc. Trans. Publication Date: 2010 Apr |
Date Detail:
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Created Date: 2010-03-19 Completed Date: 2010-06-11 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7506897 Medline TA: Biochem Soc Trans Country: England |
Other Details:
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Languages: eng Pagination: 507-10 Citation Subset: IM |
Affiliation:
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Centre for Integrative Physiology, University of Edinburgh, Edinburgh EH8 9XD, UK. s.till@ed.ac.uk |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Age Factors Animals Brain / embryology, growth & development Fragile X Mental Retardation Protein / genetics, physiology* Fragile X Syndrome / genetics Growth and Development / genetics* Humans Nerve Net / embryology, growth & development, metabolism Neurogenesis / genetics, physiology Neuronal Plasticity / genetics, physiology Phenotype |
| Chemical | |
Reg. No./Substance:
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0/FMR1 protein, human; 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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