Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 16, Issue 6, Pages 666-672Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ejhg.2008.61
Keywords
fragile X syndrome; FMR1; permutation; full mutation; autism
Funding
- NCATS NIH HHS [KL2 TR000455, UL1 TR000454] Funding Source: Medline
- NCRR NIH HHS [KL2 RR025009, UL1 RR025008] Funding Source: Medline
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Fragile X syndrome, an X-linked dominant disorder with reduced penetrance, is associated with intellectual and emotional disabilities ranging from learning problems to mental retardation, and mood instability to autism. It is most often caused by the transcriptional silencing of the FMR1 gene, due to an expansion of a CGG repeat found in the 5'-untranslated region. The FMR1 gene product, FMRP, is a selective RNA-binding protein that negatively regulates local protein synthesis in neuronal dendrites. In its absence, the transcripts normally regulated by FMRP are over translated. The resulting over abundance of certain proteins results in reduced synaptic strength due to AMPA receptor trafficking abnormalities that lead, at least in part, to the fragile X phenotype.
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