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. E. Benson +4 more
openaire +3 more sources
FMRP(1–297)-tat restores ion channel and synaptic function in a model of Fragile X syndrome
Nature Communications, 2020 Fragile X Mental Retardation Protein regulates synaptic plasticity and its loss results in Fragile X Syndrome. Here, the authors show that the FMRP(1-297)-tat peptide can permeate the BBB, restore protein translation and mossy fiber LTP, and reduce ...
Xiaoqin Zhan +8 more
doaj +1 more source
The Drosophila FMRP and LARK RNA-binding proteins function together to regulate eye development and circadian behavior [PDF]
, 2008 Fragile X syndrome (FXS) is the most common form of hereditary mental retardation. FXS patients have a deficit for the fragile X mental retardation protein (FMRP) that results in abnormal neuronal dendritic spine morphology and behavioral phenotypes ...
Botas, Juan +7 more
core +1 more source
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 Giuseppina +10 more
openaire +4 more sources
Enhanced markers of oxidative stress, altered antioxidants and NADPH-oxidase activation in brains from Fragile X mental retardation 1-deficient mice, a pathological model for Fragile X syndrome. [PDF]
, 2007 Política de acceso abierto tomada de: https://v2.sherpa.ac.uk/id/publication/6992Fragile X syndrome is the most common form of inherited mental retardation in humans.
De Diego‑Otero, Yolanda +6 more
core +1 more source
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
Modulation of the GABAergic pathway for the treatment of fragile X syndrome. [PDF]
, 2014 Fragile X syndrome (FXS) is the most common genetic cause of intellectual disability and the most common single-gene cause of autism. It is caused by mutations on the fragile X mental retardation gene (FMR1) and lack of fragile X mental retardation ...
Hagerman, Randi J +2 more
core +1 more source
Proteomic analyses of nucleus laminaris identified candidate targets of the fragile X mental retardation protein. [PDF]
J Comp Neurol, 2017 Sakano H +7 more
europepmc +3 more sources
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
doaj +1 more source
Ras signaling mechanisms underlying impaired GluR1-dependent plasticity associated with fragile X syndrome [PDF]
, 2008 Fragile X syndrome, caused by the loss of FMR1 gene function and loss of fragile X mental retardation protein (FMRP), is the most commonly inherited form of mental retardation.
Bochorishvili, G. +5 more
core +1 more source