Results 61 to 70 of about 21,903 (205)

FMRP: a triple threat to PSD-95 [PDF]

open access: yesFrontiers in Cellular Neuroscience, 2013
Autism is a spectrum of developmental disorders characterized by deficits in verbal and non-verbal communication, social awareness and interactions, and imaginative play (Caronna et al., 2008). There is a strong genetic basis for autism, which is highly comorbid with single-gene disorders including fragile X syndrome (FXS) (Wang et al., 2010). The main
openaire   +3 more sources

Cellular localization of the FMRP in rat retina [PDF]

open access: yesBioscience Reports, 2020
Abstract The fragile X mental retardation protein (FMRP) is a regulator of local translation through its mRNA targets in the neurons. Previous studies have demonstrated that FMRP may function in distinct ways during the development of different visual subcircuits.
Ping-Ping Zhang   +8 more
openaire   +2 more sources

The Fragile X Protein binds mRNAs involved in cancer progression and modulates metastasis formation

open access: yesEMBO Molecular Medicine, 2013
The role of the fragile X mental retardation protein (FMRP) is well established in brain, where its absence leads to the fragile X syndrome (FXS). FMRP is almost ubiquitously expressed, suggesting that, in addition to its effects in brain, it may have ...
Rossella Lucá   +26 more
doaj   +1 more source

Immune dysregulation as a cause of autoinflammation in fragile X premutation carriers: link between FMRI CGG repeat number and decreased cytokine responses. [PDF]

open access: yes, 2014
BackgroundIncreased rates of autoinflammatory and autoimmune disorders have been observed in female premutation carriers of CGG repeat expansion alleles of between 55-200 repeats in the fragile X mental retardation 1 (FMR1) gene.
Ashwood, Paul   +5 more
core   +2 more sources

A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments

open access: yesBrain Sciences, 2020
Fragile X syndrome (FXS) is caused by silencing of the FMR1 gene, which encodes a protein with a critical role in synaptic plasticity. The molecular abnormality underlying FMR1 silencing, CGG repeat expansion, is well characterized; however, delineation ...
Dejan B. Budimirovic   +19 more
doaj   +1 more source

mRNP granule proteins Fmrp and Dcp1a differentially regulate mRNP complexes to contribute to control of muscle stem cell quiescence and activation

open access: yesSkeletal Muscle, 2021
Background During skeletal muscle regeneration, satellite stem cells use distinct pathways to repair damaged myofibers or to self-renew by returning to quiescence.
Nainita Roy   +10 more
doaj   +1 more source

Fragile phagocytes: FMRP positively regulates engulfment activity [PDF]

open access: yesJournal of Cell Biology, 2017
Defective immune system function is implicated in autism spectrum disorders, including Fragile X syndrome. In this issue, O’Connor et al. (2017. J. Cell Biol. https://doi.org/10.1083/jcb.201607093) demonstrate that phagocytic activity of systemic immune cells is compromised in a Drosophila melanogaster model of Fragile X, highlighting intriguing new ...
openaire   +2 more sources

FMRP regulates tangential neuronal migration via MAP1B

open access: yes, 2023
ABSTRACT The Fragile X Syndrome (FXS) represents the most prevalent form of inherited intellectual disability and is the first monogenic cause of Autism Spectrum Disorder. FXS results from the absence of the RNA-binding protein FMRP (Fragile X Messenger Ribonucleoprotein). Neuronal migration is an essential step of brain
Salima, Messaoudi   +8 more
openaire   +2 more sources

The translational regulator FMRP controls lipid and glucose metabolism in mice and humans

open access: yesMolecular Metabolism, 2019
Objectives: The Fragile X Mental Retardation Protein (FMRP) is a widely expressed RNA-binding protein involved in translation regulation. Since the absence of FMRP leads to Fragile X Syndrome (FXS) and autism, FMRP has been extensively studied in brain ...
Antoine Leboucher   +14 more
doaj   +1 more source

The usefulness of intraoperative electrocorticography (iECoG) in pediatric temporal lobe epilepsy surgery

open access: yesEpileptic Disorders, EarlyView.
Abstract Objective This study aimed to evaluate the usefulness of intraoperative electrocorticography (iECoG) in providing a more accurate surgical strategy, thereby yielding seizure freedom following resective surgery in children with temporal lobe epilepsy (TLE).
Rafael Andrade Cruz   +8 more
wiley   +1 more source

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