Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics.

Details

Serval ID
serval:BIB_423CFA68798E
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Title
Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics.
Journal
The Journal of clinical investigation
Author(s)
Bagni C., Tassone F., Neri G., Hagerman R.
ISSN
1558-8238 (Electronic)
ISSN-L
0021-9738
Publication state
Published
Issued date
12/2012
Volume
122
Number
12
Pages
4314-4322
Language
english
Notes
Publication types: Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Abstract
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.

Keywords
Animals, Autistic Disorder/genetics, Early Diagnosis, Epigenesis, Genetic, Fragile X Mental Retardation Protein/genetics, Fragile X Syndrome/diagnosis, Fragile X Syndrome/genetics, Fragile X Syndrome/metabolism, Fragile X Syndrome/therapy, Humans, Molecular Targeted Therapy, Synaptic Transmission
Pubmed
Open Access
Yes
Create date
06/03/2017 18:23
Last modification date
08/05/2019 17:43
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