| FMR1: a gene with three faces. | |
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MedLine Citation:
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PMID: 19233246 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The FMR1 gene is involved in three different syndromes, the fragile X syndrome (FXS), premature ovarian insufficiency (POI) and the fragile X-associated tremor/ataxia syndrome (FXTAS) at older age. Fragile X syndrome is caused by an expansion of a CGG repeat above 200 units in the FMR1 gene resulting in the absence of the FMR1 mRNA and protein. The FMR1 protein is proposed to act as a regulator of mRNA transport and of translation of target mRNAs at the synapse. FXS is seen as a loss of function disorder. POI and FXTAS are found in individuals with an expanded repeat between 50 and 200 CGGs and are associated with increased FMR1 mRNA levels. The presence of elevated FMR1 mRNA in FXTAS suggests that FXTAS may represent a toxic RNA gain-of-function effect. The molecular basis of POI is yet unknown. The role of the FMR1 gene in these disorders is discussed. |
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Authors:
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Ben A Oostra; Rob Willemsen |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review Date: 2009-02-21 |
Journal Detail:
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Title: Biochimica et biophysica acta Volume: 1790 ISSN: 0006-3002 ISO Abbreviation: Biochim. Biophys. Acta Publication Date: 2009 Jun |
Date Detail:
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Created Date: 2009-06-05 Completed Date: 2009-08-10 Revised Date: 2013-04-02 |
Medline Journal Info:
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Nlm Unique ID: 0217513 Medline TA: Biochim Biophys Acta Country: Netherlands |
Other Details:
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Languages: eng Pagination: 467-77 Citation Subset: IM |
Affiliation:
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Department of Clinical Genetics, Erasmus MC, P.O. Box 2040, 3000 CA Rotterdam, The Netherlands. b.oostra@erasmusmc.nl |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Animals Dendritic Spines / metabolism, ultrastructure Disease Models, Animal Epigenesis, Genetic Female Fragile X Mental Retardation Protein / chemistry, genetics*, metabolism Fragile X Syndrome* / genetics, physiopathology Humans Mutation Primary Ovarian Insufficiency / genetics Protein Biosynthesis Ribonucleoproteins / metabolism Synapses / metabolism Tremor / genetics Trinucleotide Repeat Expansion |
| Grant Support | |
ID/Acronym/Agency:
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HD38038/HD/NICHD NIH HHS; R01 HD038038/HD/NICHD NIH HHS; R01 HD038038-09/HD/NICHD NIH HHS; RL1 NS062411/NS/NINDS NIH HHS; UL1 RR024922/RR/NCRR NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Ribonucleoproteins; 0/messenger ribonucleoprotein; 139135-51-6/Fragile X Mental Retardation Protein |
| Comments/Corrections | |
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