Results 81 to 90 of about 10,642 (179)
PLoS Genetics, 2010 Fragile X syndrome (FXS), the most common form of inherited mental retardation, is caused by the loss of functional fragile X mental retardation protein (FMRP). FMRP is an RNA-binding protein that can regulate the translation of specific mRNAs.
Yuping Luo +13 more
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FMRP S499 is phosphorylated independent of mTORC1-S6K1 activity.
PLoS ONE, 2014 Hyperactive mammalian target of rapamycin (mTOR) is associated with cognitive deficits in several neurological disorders including tuberous sclerosis complex (TSC). The phosphorylation of the mRNA-binding protein FMRP reportedly depends on mTOR complex 1
Christopher M Bartley +2 more
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FMRP: a new chapter with chromatin [PDF]
Protein & Cell, 2014 He, Qingzhong, Ge, Wei
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Analysis of Domains Affecting Intracellular Localization of the FMRP Protein
Neurobiology of Disease, 1997 Fragile X syndrome is the most frequent form of inherited mental retardation and it is caused by deficiency of FMRP, the protein encoded by the FMR1 gene. FMRP is a RNA binding protein of unknown function which is associated with ribosomes. FMRP is found in the cytoplasm, but it is endowed with a nuclear export signal (NES), encoded by exon 14, and a ...
Bardoni, B +3 more
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eLife, 2019 Loss of the RNA binding protein FMRP causes Fragile X Syndrome (FXS), the most common cause of inherited intellectual disability, yet it is unknown how FMRP function varies across brain regions and cell types and how this contributes to disease ...
Kirsty Sawicka +8 more
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ESCRT-III Membrane Trafficking Misregulation Contributes To Fragile X Syndrome Synaptic Defects
Scientific Reports, 2017 The leading cause of heritable intellectual disability (ID) and autism spectrum disorders (ASD), Fragile X syndrome (FXS), is caused by loss of the mRNA-binding translational suppressor Fragile X Mental Retardation Protein (FMRP).
Dominic J. Vita, Kendal Broadie
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Cell Reports, 2015 Subcellular targeting and local translation of mRNAs are critical for axon development. However, the precise local control of mRNA translation requires investigation.
Bin Wang +8 more
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FMRP Associates with Cytoplasmic Granules at the Onset of Meiosis in the Human Oocyte.
PLoS ONE, 2016 Germ cell development and primordial follicle formation during fetal life is critical in establishing the pool of oocytes that subsequently determines the reproductive lifespan of women.
Roseanne Rosario +6 more
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BDNF Regulates the Expression of Fragile X Mental Retardation Protein mRNA in the Hippocampus
Neurobiology of Disease, 2002 Both fragile X mental retardation protein (FMRP) and brain-derived neurotrophic factor (BDNF) are implicated in the maturation of neurons and in the higher cognitive functions.
Maija Castrén +7 more
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Expression identification and purification of human FMRP Isoform 10
Frontiers in Bioscience, 2012 Fragile X syndrome (FXS), which is the most frequently inherited mental retardation after Down syndrome, is caused by the absence of the fragile X mental retardation protein (FMRP) encoded by the fragile X mental retardation 1 (FMR1) gene. Patients with FXS can be identified by antibody tests that detect the absence of FMRP caused by loss-of-function ...
Yong, Guo +6 more
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