Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice
Neurobiology of Disease, 2008 Lack of fragile X mental retardation protein (FMRP) causes Fragile X Syndrome, the most common form of inherited mental retardation. FMRP is an RNA-binding protein and is a component of messenger ribonucleoprotein complexes, associated with brain ...
Femke M.S. de Vrij +7 more
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EGFP-FMRP Granules Are Proto-Granules That Can Be Shunted to Stress Granules During a Stress Response [PDF]
, 2010 Overexpressed EGFP-FMRP has been used as a substitute for endogenous fragile X mental retardation protein (FMRP) in protein-protein interaction studies, and in studies concerning the composition, the formation and the localization of neuronal granules ...
Robert Denman
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Sumoylation regulates FMRP-mediated dendritic spine elimination and maturation
Nature Communications, 2018 Fragile X syndrome patients display intellectual disability and autism, caused by mutations in the RNA-binding protein fragile X mental retardation protein (FMRP).
Anouar Khayachi +19 more
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A nuclear role for the Fragile X mental retardation protein. [PDF]
The EMBO Journal, 1996 Fragile X syndrome results from lack of expression of a functional form of Fragile X mental retardation protein (FMRP), a cytoplasmic RNA-binding protein of uncertain function. Here, we report that FMRP contains a nuclear export signal (NES) that is similar to the NES recently identified in the Rev regulatory protein of human immunodeficiency virus ...
R A, Fridell +4 more
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IDENTIFICATION OF GENETIC DEFECTS IN X-LINKED MENTAL RETARDATION [PDF]
, 2010 Backgrounds: X-linked mental retardation (XLMR) has been the focus of MR research because of 40% excess of males with MR. Genetic defects are estimated to account for 50% MR cases.
Fitri, Aditia Retno
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Fragile X mental retardation protein regulates trans-synaptic signaling in Drosophila
Disease Models & Mechanisms, 2013 SUMMARY Fragile X syndrome (FXS), the most common inherited determinant of intellectual disability and autism spectrum disorders, is caused by loss of the fragile X mental retardation 1 (FMR1) gene product (FMRP), an mRNA-binding translational repressor.
Samuel H. Friedman +3 more
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The Drosophila fragile X mental retardation protein participates in the piRNA pathway [PDF]
Journal of Cell Science, 2015 ABSTRACT RNA metabolism controls multiple biological processes, and a specific class of small RNAs, called piRNAs, act as genome guardians by silencing the expression of transposons and repetitive sequences in the gonads. Defects in the piRNA pathway affect genome integrity and fertility.
Bozzetti, Maria Pia +11 more
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The role of epigenetic factors in the pathogenesis of familial X-linked mental retardation (XLMR) [PDF]
, 2010 Mental retardation (MR) is a handicap with severe implications not only for thosethat suffer from this disability, but also for their families, society and the welfaresystems which support them.
Carvill, Gemma
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PLoS ONE, 2012 Fragile X syndrome (FXS) is a well-recognized form of inherited mental retardation, caused by a mutation in the fragile X mental retardation 1 (Fmr1) gene.
Snigdha Roy, Nick Watkins, Detlef Heck
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Fragile X mental retardation protein regulates heterosynaptic plasticity in the hippocampus [PDF]
Learning & Memory, 2011 Silencing of a single gene, FMR1, is linked to a highly prevalent form of mental retardation, characterized by social and cognitive impairments, known as fragile X syndrome (FXS). The FMR1 gene encodes fragile X mental retardation protein (FMRP), which negatively regulates translation.
Steven A, Connor +3 more
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