Results 11 to 20 of about 16,335 (162)
A novel function for fragile X mental retardation protein in translational activation.
PLoS Biology, 2009 Fragile X syndrome, the most frequent form of inherited mental retardation, is due to the absence of Fragile X Mental Retardation Protein (FMRP), an RNA-binding protein involved in several steps of RNA metabolism.
Elias G Bechara +10 more
doaj +4 more sources
Nuclear Fragile X Mental Retardation Protein is localized to Cajal bodies.
PLoS Genetics, 2013 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
doaj +3 more sources
Fragile X mental retardation protein: from autism to neurodegenerative disease [PDF]
Frontiers in Cellular Neuroscience, 2015 Fragile X mental retardation protein (FMRP) is a RNA binding protein, the absence of which due to silencing of the FMR1 gene causes fragile X syndrome, an X-linked neurodevelopmental disorder (Bassell and Warren, 2008; Bhakar et al., 2012; Santoro et al., 2012). FMRP regulates the transport, stability and translation of its mRNA targets.
Hansen eWang
doaj +3 more sources
Multifarious Functions of the Fragile X Mental Retardation Protein. [PDF]
Trends Genet, 2017 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.
europepmc +4 more sources
Differential regulation of BK channels by fragile X mental retardation protein. [PDF]
J Gen Physiol, 2020 Fragile X mental retardation protein (FMRP) is an RNA-binding protein prominently expressed in neurons. Missense mutations or complete loss of FMRP can potentially lead to fragile X syndrome, a common form of inherited intellectual disability. In addition to RNA regulation, FMRP was also proposed to modulate neuronal function by direct interaction with
Kshatri A +5 more
europepmc +3 more sources
Fragile X Mental Retardation Protein and the Ribosome [PDF]
Molecular Cell, 2014 In this issue of Molecular Cell, Chen et al. (2014) provide evidence that FMRP represses translation by binding the ribosome, suggesting a novel form of translational control.
Harigaya, Yuriko, Parker, Roy
openaire +2 more sources
Fragile X Mental Retardation Syndrome: Structure of the KH1-KH2 Domains of Fragile X Mental Retardation Protein [PDF]
Structure, 2007 Fragile X syndrome is the most common form of inherited mental retardation in humans, with an estimated prevalence of about 1 in 4000 males. Although several observations indicate that the absence of functional Fragile X Mental Retardation Protein (FMRP) is the underlying basis of Fragile X syndrome, the structure and function of FMRP are currently ...
Valverde, Roberto +4 more
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Molecular Insights into Mental Retardation: Multiple Functions for the Fragile X Mental Retardation Protein? [PDF]
Current Issues in Molecular Biology, 2004 Mental retardation is a frequent cause of intellectual and physical impairment. Several genes associated with mental retardation have been mapped to the X chromosome, among them, there is FMR1. The absence of or mutation in the Fragile Mental Retardation Protein, FMRP, is responsible for the Fragile X syndrome.
Zalfa, F., Bagni, Claudia
openaire +5 more sources
Fragile X mental retardation protein and synaptic plasticity [PDF]
Molecular Brain, 2013 Abstract Loss of the translational repressor FMRP causes Fragile X syndrome. In healthy neurons, FMRP modulates the local translation of numerous synaptic proteins. Synthesis of these proteins is required for the maintenance and regulation of long-lasting changes in synaptic strength.
Sidorov, Michael Samuel +2 more
openaire +4 more sources
FMRP activity and control of Csw/SHP2 translation regulate MAPK-dependent synaptic transmission
PLoS Biology, 2023 Noonan syndrome (NS) and NS with multiple lentigines (NSML) cognitive dysfunction are linked to SH2 domain-containing protein tyrosine phosphatase-2 (SHP2) gain-of-function (GoF) and loss-of-function (LoF), respectively.
Shannon N. Leahy +3 more
doaj +2 more sources