| Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics. | |
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MedLine Citation:
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PMID: 23202739 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Fragile X syndrome (FXS) is the most frequent form of inherited intellectual disability and is also linked to other neurologic and psychiatric disorders. FXS is caused by a triplet expansion that inhibits expression of the FMR1 gene; the gene product, FMRP, regulates mRNA metabolism in the brain and thus controls the expression of key molecules involved in receptor signaling and spine morphology. While there is no definitive cure for FXS, the understanding of FMRP function has paved the way for rational treatment designs that could potentially reverse many of the neurobiological changes observed in FXS. Additionally, behavioral, pharmacological, and cognitive interventions can raise the quality of life for both patients and their families. |
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Authors:
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Claudia Bagni; Flora Tassone; Giovanni Neri; Randi Hagerman |
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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 Date: 2012-12-03 |
Journal Detail:
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Title: The Journal of clinical investigation Volume: 122 ISSN: 1558-8238 ISO Abbreviation: J. Clin. Invest. Publication Date: 2012 Dec |
Date Detail:
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Created Date: 2012-12-03 Completed Date: 2013-02-04 Revised Date: 2013-04-18 |
Medline Journal Info:
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Nlm Unique ID: 7802877 Medline TA: J Clin Invest Country: United States |
Other Details:
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Languages: eng Pagination: 4314-22 Citation Subset: AIM; IM |
Affiliation:
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Katholieke Universiteit Leuven, Center for Human Genetics, Leuven, Belgium. claudia.bagni@med.kuleuven.be |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Animals Autistic Disorder / genetics Early Diagnosis Epigenesis, Genetic Fragile X Mental Retardation Protein / genetics Fragile X Syndrome / diagnosis, genetics*, metabolism, therapy Humans Molecular Targeted Therapy Synaptic Transmission |
| Grant Support | |
ID/Acronym/Agency:
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3UL1 RR024146-04S4/RR/NCRR NIH HHS; HD02274/HD/NICHD NIH HHS; HD036071/HD/NICHD NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/FMR1 protein, human; 139135-51-6/Fragile X Mental Retardation Protein |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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