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

Détails

ID Serval
serval:BIB_423CFA68798E
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Titre
Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics.
Périodique
The Journal of clinical investigation
Auteur(s)
Bagni C., Tassone F., Neri G., Hagerman R.
ISSN
1558-8238 (Electronic)
ISSN-L
0021-9738
Statut éditorial
Publié
Date de publication
12/2012
Volume
122
Numéro
12
Pages
4314-4322
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Résumé
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.

Mots-clé
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
Oui
Création de la notice
06/03/2017 18:23
Dernière modification de la notice
08/05/2019 17:43
Données d'usage