Dysregulation and restoration of translational homeostasis in fragile X syndrome

Joel D. Richter, Gary J. Bassell, Eric Klann

Research output: Contribution to journalArticle

Abstract

Fragile X syndrome (FXS), the most-frequently inherited form of intellectual disability and the most-prevalent single-gene cause of autism, results from a lack of fragile X mental retardation protein (FMRP), an RNA-binding protein that acts, in most cases, to repress translation. Multiple pharmacological and genetic manipulations that target receptors, scaffolding proteins, kinases and translational control proteins can rescue neuronal morphology, synaptic function and behavioural phenotypes in FXS model mice, presumably by reducing excessive neuronal translation to normal levels. Such rescue strategies might also be explored in the future to identify the mRNAs that are critical for FXS pathophysiology.

Original languageEnglish (US)
Pages (from-to)595-605
Number of pages11
JournalNature Reviews Neuroscience
Volume16
Issue number10
DOIs
StatePublished - Oct 19 2015

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Fragile X Syndrome
Homeostasis
Fragile X Mental Retardation Protein
RNA-Binding Proteins
Autistic Disorder
Protein Binding
Intellectual Disability
Protein Kinases
Pharmacology
Phenotype
Messenger RNA
Genes
Proteins

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Dysregulation and restoration of translational homeostasis in fragile X syndrome. / Richter, Joel D.; Bassell, Gary J.; Klann, Eric.

In: Nature Reviews Neuroscience, Vol. 16, No. 10, 19.10.2015, p. 595-605.

Research output: Contribution to journalArticle

Richter, Joel D. ; Bassell, Gary J. ; Klann, Eric. / Dysregulation and restoration of translational homeostasis in fragile X syndrome. In: Nature Reviews Neuroscience. 2015 ; Vol. 16, No. 10. pp. 595-605.
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