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.
Genetics of androgen metabolism in women with infertility and hypoandrogenism.
New York City, United States. In Nat Rev Endocrinol, Jul 2015
Common variants in genes encoding DHEA sulphotransferase, aromatase, steroid 5α-reductase, androgen receptor, sex-hormone binding globulin, fragile X mental retardation protein and breast cancer type 1 susceptibility protein have been implicated in androgen metabolism and, therefore, can affect levels of androgens in women.
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.