Uncoupling of the endocannabinoid signalling complex in a mouse model of fragile X syndrome [PDF]
, 2012 Fragile X syndrome, the most commonly known genetic cause of autism, is due to loss of the fragile X mental retardation protein, which regulates signal transduction at metabotropic glutamate receptor-5 in the brain.
DiPatrizio, Nicholas V. +12 more
core +5 more sources
Are physiological oscillations physiological?
The Journal of Physiology, EarlyView., 2023 Abstract figure legend Mechanisms and functions of physiological oscillations. Abstract Despite widespread and striking examples of physiological oscillations, their functional role is often unclear. Even glycolysis, the paradigm example of oscillatory biochemistry, has seen questions about its oscillatory function.
Lingyun (Ivy) Xiong, Alan Garfinkel
wiley +1 more source
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, Francesca, Bagni, Claudia
openaire +2 more sources
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
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
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
Fragile X mental retardation protein regulates translation by binding directly to the ribosome. [PDF]
Molecular Cell, 2014 Fragile X syndrome (FXS) is the most common form of inherited mental retardation, and it is caused by loss of function of the fragile X mental retardation protein (FMRP). FMRP is an RNA-binding protein that is involved in the translational regulation of several neuronal mRNAs.
E. Chen +4 more
semanticscholar +6 more sources
Compositional Trends in Surface Enhanced Diffusion in Lead Silicate Glasses [PDF]
Computational Materials Science 206 (2022) 111304, 2022 In this work, we use molecular dynamics simulations to study the enhancement of surface over bulk diffusion (surface enhanced diffusion) in (PbO)x(SiO2)1-x glasses. This work is motivated to better understand surface diffusion in glasses and its connection to fragility, and to enhance surface diffusion in silica and related glasses for greater ...
arxiv +1 more source