Journal
JOURNAL OF CLINICAL INVESTIGATION
Volume 122, Issue 12, Pages 4314-4322Publisher
AMER SOC CLINICAL INVESTIGATION INC
DOI: 10.1172/JCI63141
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Funding
- Roche
- Novartis
- Seaside Therapeutics
- Forest
- Curemark
- VIB
- Telethon [GGP10150]
- Compagnia San Paolo
- PRIN
- Queen Elisabeth Foundation [NICHD HD036071, HD02274, NCRR 3UL1 RR024146-04S4]
- Associazione Italiana Sindrome X Fragile Foundation
- American National Fragile X Foundation
- FRAXA Foundation
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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 design-S.-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.
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