Multifarious Functions of the Fragile X Mental Retardation Protein. [PDF]
Fragile X syndrome (FXS), a heritable intellectual and autism spectrum disorder (ASD), results from the loss of Fragile X mental retardation protein (FMRP). This neurodevelopmental disease state exhibits neural circuit hyperconnectivity and hyperexcitability.
Davis JK, Broadie K.
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Cellular distribution of the fragile X mental retardation protein in the mouse brain. [PDF]
ABSTRACTThe fragile X mental retardation protein (FMRP) plays an important role in normal brain development. Absence of FMRP results in abnormal neuronal morphologies in a selected manner throughout the brain, leading to intellectual deficits and sensory dysfunction in the fragile X syndrome (FXS). Despite FMRP importance for proper brain function, its
Zorio DA+4 more
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Fragile X mental retardation protein expression in Alzheimer’s disease [PDF]
The FMR1 protein product, FMRP, is an mRNA binding protein associated with translational inhibition of target transcripts. One FMRP target is the amyloid precursor protein (APP) mRNA, and APP levels are elevated in Fmr1 KO mice. Given that elevated APP
Abigail J Renoux+4 more
doaj +4 more sources
Interregulation between fragile X mental retardation protein and methyl CpG binding protein 2 in the mouse posterior cerebral cortex. [PDF]
Several X-linked neurodevelopmental disorders including Rett syndrome, induced by mutations in the MECP2 gene, and fragile X syndrome (FXS), caused by mutations in the FMR1 gene, share autism-related features.
Arsenault J+9 more
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The Fragile X Mental Retardation Protein Regulates Striatal Medium Spiny Neuron Synapse Density and Dendritic Spine Morphology. [PDF]
The fragile X mental retardation protein (FMRP), an RNA-binding protein that mediates the transport, stability, and translation of hundreds of brain RNAs, is critically involved in regulating synaptic function. Loss of FMRP, as in fragile X syndrome (FXS)
Huebschman JL+3 more
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Fragile x mental retardation protein regulates proliferation and differentiation of adult neural stem/progenitor cells. [PDF]
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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Loss of the fragile X mental retardation protein causes aberrant differentiation in human neural progenitor cells. [PDF]
Fragile X syndrome (FXS) is caused by transcriptional silencing of the FMR1 gene during embryonic development with the consequent loss of the encoded fragile X mental retardation protein (FMRP).
Sunamura N+4 more
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HITS-CLIP in various brain areas reveals new targets and new modalities of RNA binding by fragile X mental retardation protein. [PDF]
Fragile X syndrome (FXS), the most common form of inherited intellectual disability, is due to the functional deficiency of the fragile X mental retardation protein (FMRP), an RNA-binding protein involved in translational regulation of many messenger ...
Maurin T+8 more
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Fragile X Mental Retardation Protein: Nucleocytoplasmic Shuttling and Association with Somatodendritic Ribosomes [PDF]
Fragile X syndrome, a leading cause of inherited mental retardation, is attributable to the unstable expansion of a CGG-repeat within the FMR1 gene that results in the absence of the encoded protein.
Yue Feng+5 more
openalex +2 more sources
Nuclear Fragile X Mental Retardation Protein is localized to Cajal bodies. [PDF]
Fragile X syndrome is caused by loss of function of a single gene encoding the Fragile X Mental Retardation Protein (FMRP). This RNA-binding protein, widely expressed in mammalian tissues, is particularly abundant in neurons and is a component of ...
Alain Y Dury+6 more
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