Fragile X syndrome (FXS) is a trinucleotide repeat disorder caused by a CGG repeat
expansion in FMR1, and loss of its protein product FMRP. Recent studies have provided …

The fragile X mental retardation syndrome is caused by large methylated expansions of a
CGG repeat in the FMR1 gene that lead to the loss of expression of FMRP, an RNA-binding …

Nearly all cases of fragile X syndrome result from expansion of a CGG trinucleotide repeat
found in the 5′ untranslated portion of the FMR1 gene1. Methylation of the expanded …

Fragile X syndrome, the most common form of hereditary mental retardation, usually results
from lack of expression of the FMR1 gene. The FMR1 protein is a cytoplasmic RNA-binding …

Loss of fragile X mental retardation protein (FMRP) function causes the fragile X mental
retardation syndrome. FMRP harbors three RNA binding domains, associates with …

The fragile X syndrome, an X-linked disease, is the most frequent cause of inherited mental
retardation. The syndrome results from the absence of expression of the FMR1 gene (fragile …

Silenced expression of the FMR1 gene is responsible for the fragile X syndrome. The FMR1
gene codes for an RNA binding protein (FMRP), which can shuttle between the nucleus and …

Fragile X mental retardation is caused by the absence of FMRP, an RNA-binding protein
found in a large mRNP complex. Although there is evidence that FMRP exists as a homo …

FMR1 is an RNA-binding protein that is either absent or mutated in patients affected by the
fragile X syndrome, the most common inherited cause of mental retardation in humans …

Fragile X syndrome (FXS) results in intellectual disability (ID) most often caused by silencing
of the fragile X mental retardation 1 (FMR1) gene. The resulting absence of fragile X mental …