Title: Regulation of molecular pathways in the Fragile X Syndrome: insights into Autism Spectrum Disorders
Authors: De Rubeis, Silvia ×
Bagni, Claudia #
Issue Date: Sep-2011
Publisher: Springer New York LLC
Series Title: Journal of Neurodevelopmental Disorders vol:3 issue:3 pages:257-269
Abstract: The Fragile X syndrome (FXS) is a leading cause of intellectual disability (ID) and autism. The disease is caused by mutations or loss of the Fragile X Mental Retardation Protein (FMRP), an RNA-binding protein playing multiple functions in RNA metabolism. The expression of a large set of neuronal mRNAs is altered when FMRP is lost, thus causing defects in neuronal morphology and physiology. FMRP regulates mRNA stability, dendritic targeting, and protein synthesis. At synapses, FMRP represses protein synthesis by forming a complex with the Cytoplasmic FMRP Interacting Protein 1 (CYFIP1) and the cap-binding protein eIF4E. Here, we review the clinical, genetic, and molecular aspects of FXS with a special focus on the receptor signaling that regulates FMRP-dependent protein synthesis. We further discuss the FMRP-CYFIP1 complex and its potential relevance for ID and autism.
ISSN: 1866-1947
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Laboratory for Molecular Neurobiology (-)
× corresponding author
# (joint) last author

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