Advances in understanding of fragile X pathogenesis and FMRP function, and in identification of X linked mental retardation genes
β Scribed by Barbara Bardoni; Jean-Louis Mandel
- Book ID
- 117654882
- Publisher
- Elsevier Science
- Year
- 2002
- Tongue
- English
- Weight
- 102 KB
- Volume
- 12
- Category
- Article
- ISSN
- 0959-437X
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π SIMILAR VOLUMES
Mental retardation (MR) is a common condition with no general mechanism suggested. Mild MR (70 > IQ > 50) is present in 2-3% of the general population, whereas 0.3% presents severe forms of MR (IQ < 50) . Two different forms of MR could be distinguished: nonsyndromic MR, where affected patients do n
## Communicated by Andreas Gal The EuroMRX family cohort consists of about 400 families with non-syndromic and 200 families with syndromic X-linked mental retardation (XLMR). After exclusion of Fragile X (Fra X) syndrome, probands from these families were tested for mutations in the coding sequenc
Fragile X mental retardation results from the absence of a selective RNA-binding protein, FMRP. Previous studies demonstrated that FMRP forms messenger ribonucleoprotein (mRNP) complexes to associate with translating polyribosomes, suggesting that FMRP is involved in regulating protein synthesis. We