Fragile X Mental Retardation Protein
Human pluripotent stem cell models of Fragile X syndrome.
Madison, United States. In Mol Cell Neurosci, Dec 2015
The causal mutation in FXS is a trinucleotide CGG repeat expansion in the FMR1 gene that leads to human specific epigenetic silencing and loss of Fragile X Mental Retardation Protein (FMRP) expression.
Dysregulation and restoration of translational homeostasis in fragile X syndrome.
Worcester, United States. In Nat Rev Neurosci, Oct 2015
Fragile X syndrome (FXS), the most-frequently inherited form of intellectual disability and the most-prevalent single-gene cause of autism, results from a lack of fragile X mental retardation protein (FMRP), an RNA-binding protein that acts, in most cases, to repress translation.
microRNAs and Fragile X Syndrome.
Santa Fe Springs, United States. In Adv Exp Med Biol, 2014
The etiology of FXS is linked to the expansion of the CGG trinucleotide repeats, r(CGG), suppressing the fragile X mental retardation 1 (FMR1) gene on the X chromosome, resulting in a loss of fragile X mental retardation protein (FMRP) expression, which is required for regulating normal neuronal connectivity and plasticity.
SnapShot: FMRP interacting proteins.
Leuven, Belgium. In Cell, 2014
The Fragile X syndrome, caused by the absence or mutation of fragile X mental retardation protein, FMRP, is a the common component of inherited intellectual disability and autism.