| Advances in understanding the molecular basis of FXTAS. | |
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MedLine Citation:
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PMID: 20430935 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder among carriers of premutation expansions (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene. The clinical features of FXTAS, as well as other forms of clinical involvement in carriers without FXTAS, are thought to arise from a toxic gain of function of transcriptionally active FMR1 containing expanded CGG repeats. Although the precise mechanisms involved in rCGG toxicity are unknown, here we discuss the latest advances and models that contribute to the understanding of the molecular basis of FXTAS, and the emerging view of FXTAS as the end-stage of a process that begins in early development. |
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Authors:
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Dolores Garcia-Arocena; Paul J Hagerman |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Review Date: 2010-04-29 |
Journal Detail:
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Title: Human molecular genetics Volume: 19 ISSN: 1460-2083 ISO Abbreviation: Hum. Mol. Genet. Publication Date: 2010 Apr |
Date Detail:
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Created Date: 2010-05-20 Completed Date: 2010-08-24 Revised Date: 2011-07-28 |
Medline Journal Info:
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Nlm Unique ID: 9208958 Medline TA: Hum Mol Genet Country: England |
Other Details:
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Languages: eng Pagination: R83-9 Citation Subset: IM |
Affiliation:
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Department of Biochemistry and Molecular Medicine, University of California, Davis, CA, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Fragile X Mental Retardation Protein
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genetics Fragile X Syndrome / genetics* Humans RNA / genetics Tremor / genetics* |
| Grant Support | |
ID/Acronym/Agency:
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R01 HD040661/HD/NICHD NIH HHS; R01 HD040661-08/HD/NICHD NIH HHS; R01 HD040661-09/HD/NICHD NIH HHS; RL1 AG032119/AG/NIA NIH HHS; UL1DE19583/DE/NIDCR NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/FMR1 protein, human; 139135-51-6/Fragile X Mental Retardation Protein; 63231-63-0/RNA |
| Comments/Corrections | |
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