Results 181 to 190 of about 13,308 (213)
Ribosomal RACK1 Regulates the Dendritic Arborization by Repressing FMRP Activity [PDF]
International Journal of Molecular Sciences, 2022 FMRP is an RNA-binding protein that represses the translation of specific mRNAs. In neurons, its depletion determines the exaggerated translation of mRNAs leading to dendritic and axonal aberrant development, two peculiar features of Fragile X syndrome ...
Nicla Romano +2 more
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FMRP ribonucleoprotein complexes and RNA homeostasis
2020The Fragile Mental Retardation 1 gene (FMR1), at Xq27.3, encodes the fragile mental retardation protein (FMRP), and displays in its 5'-untranslated region a series of polymorphic CGG triplet repeats that may undergo dynamic mutation. Fragile X syndrome (FXS) is the leading cause of inherited intellectual disability among men, and is most frequently due
Gabriela Aparecida Marcondes, Suardi +1 more
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FMRP links optimal codons to mRNA stability in neurons [PDF]
Proceedings of the National Academy of Sciences of the United States of America, 2020 Significance Fragile X syndrome (FXS), the most prevalent monogenic form of autism, is caused by the loss of FMRP, an RNA binding protein. In the absence of FMRP, translation is dysregulated, but restoration of translational homeostasis rescues the syndrome and thus could suggest new treatments for the disorder.
Huan Shu, Elisa Donnard, Botao Liu
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The developmental roles of FMRP
Biochemical Society Transactions, 2010FXS (Fragile X syndrome) is the most common genetically inherited form of cognitive impairment. The predominant cause of the syndrome is the loss of a single protein, FMRP (Fragile X mental retardation protein). Many of the cognitive and behavioural features found in Fragile X individuals emerge during childhood and are associated with abnormal ...
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On the aggregation properties of FMRP – a link with the FXTAS syndrome?
The FEBS Journal, 2011Fragile X mental retardation protein (FMRP) is an RNA binding protein necessary for correct spatiotemporal control of neuronal gene expression in humans. Lack of functional FMRP causes fragile X mental retardation, which is the most common inherited neurodevelopmental disorder in humans. In a previous study, we described the biochemical and biophysical
Sjekloca Ljiljana +2 more
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Phenotypic variation and FMRP levels in fragile X
Mental Retardation and Developmental Disabilities Research Reviews, 2004AbstractData on the relationships between cognitive and physical phenotypes, and a deficit of fragile X mental retardation 1 (FMR1) gene‐specific protein product, FMRP, are presented and discussed in context with earlier findings. The previously unpublished results obtained, using standard procedures of regression and correlations, showed highly ...
Danuta Z Loesch +2 more
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Reelin, GABA, FMRP, and Autism
2015Autism is a heterogeneous neurodevelopmental disorder. The etiology of autism remains unknown although both genetic and environmental factors are likely to be involved. These factors disrupt the course of normal brain development from the cellular to the gross anatomical levels.
Timothy D. Folsom, S. Hossein Fatemi
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Immunocytochemical and Biochemical Characterization of FMRP, FXR1P, and FXR2P in the Mouse
Experimental Cell Research, 2000Fragile X syndrome is caused by the absence of expression of the FMR1 gene. Both FXR1 and FXR2 are autosomal gene homologues of FMR1. The products of the three genes are belonging to a family of RNA-binding proteins, called FMRP, FXR1P, and FXR2P, respectively, and are associated with polyribosomes as cytoplasmic mRNP particles.
Bakker, CE +7 more
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FMRP Depletion Reprograms an Immunosuppressive Microenvironment
Cancer Discovery, 2023Abstract Cancer cell expression of the RNA binding protein FMRP promotes the suppression of CD8+ T cells.
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FMRP detection assay for the diagnosis of the fragile X syndrome
American Journal of Medical Genetics, 2000Fragile X syndrome is almost always caused by the absence or deficit of the FMR1 protein (FMRP). Diagnostic methods include polymerase chain reaction and Southern blotting, which are performed on DNA isolated from peripheral leukocytes. Recently, different immunocytochemical tests have been described to identify patients with fragile X syndrome, based ...
Willemsen, Rob, Oostra, Ben
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