Document Detail

Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics.
MedLine Citation:
PMID:  23202739     Owner:  NLM     Status:  MEDLINE    
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.
Claudia Bagni; Flora Tassone; Giovanni Neri; Randi Hagerman
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't     Date:  2012-12-03
Journal Detail:
Title:  The Journal of clinical investigation     Volume:  122     ISSN:  1558-8238     ISO Abbreviation:  J. Clin. Invest.     Publication Date:  2012 Dec 
Date Detail:
Created Date:  2012-12-03     Completed Date:  2013-02-04     Revised Date:  2014-03-19    
Medline Journal Info:
Nlm Unique ID:  7802877     Medline TA:  J Clin Invest     Country:  United States    
Other Details:
Languages:  eng     Pagination:  4314-22     Citation Subset:  AIM; IM    
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MeSH Terms
Autistic Disorder / genetics
Early Diagnosis
Epigenesis, Genetic
Fragile X Mental Retardation Protein / genetics
Fragile X Syndrome / diagnosis,  genetics*,  metabolism,  therapy
Molecular Targeted Therapy
Synaptic Transmission
Grant Support
3UL1 RR024146-04S4/RR/NCRR NIH HHS; GGP10150//Telethon; HD02274/HD/NICHD NIH HHS; HD036071/HD/NICHD NIH HHS
Reg. No./Substance:
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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