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DTor and DFMRP immunoreactivities were partially colocalized in several cellular organelles in larval muscles
Fmr1 protein associates with ninaE (show RHO ELISA Kits) mRNA and represses its translation.
Our data strongly support a gain-of-function pathogenic mechanism of PQBP1 (show PQBP1 ELISA Kits) c.459_462delAGAG and c.463_464dupAG mutations, and suggest that therapeutic strategies to restore FMRP function may be beneficial for those patients
dFMRP cooperates with Piwi in maintaining genome integrity by silencing heterochromatic genes and suppressing transposon expression.
results show Fragile X Mental Retardation Protein (FMRP) shapes neuron class-specific calcium signaling in excitatory vs. inhibitory neurons in developing learning/memory circuitry, and that FMRP mediates activity-dependent regulation of calcium signaling specifically during the early-use critical period.
results support a model whereby dFMRP can modulate the neurotoxicity caused by TDP-43 (show TARDBP ELISA Kits) overexpression
demonstrate that Zfrp8 genetically interacts with Fmr1 and tral (show LSM14A ELISA Kits) in an antagonistic manner. Zfrp8 and FMRP both control heterochromatin packaging, also in opposite ways
dFmr1 protein is essential for proper cardiac function and establish the fly as a new model for studying the role(s) of FraX proteins in the heart.
These results show that dfmr1 acts in a neuron type-specific activity-dependent manner for sculpting dendritic arbors during early-use, critical period development of learning and memory circuitry in the Drosophila brain.
upon the stimulation of replication stress, dFMR1 is associated with chromatin in a domain-specific manner, which is essential for its ability to induce the phosphorylation of H2Av (show H2AFV ELISA Kits).
CGG-repeat dynamics and FMR1 gene silencing in fragile X syndrome stem cells and stem cell-derived neurons has been reported.
Based on insights from the structures and existing biochemical data, the existence of an evolutionarily conserved ribonucleoprotein (show RBP31 ELISA Kits) (RNP (show RNPC3 ELISA Kits)) complex consisting of Caprin-1, FMRP and G3BP1 (show G3BP1 ELISA Kits) is proposed.
found that human Torsin1A and human FMRP were present in the same protein complexes, suggesting that this phenomenon is evolutionarily conserved
Understanding how FMRP regulates iontophoresis should reveal new molecular factors underpinning Fragile X syndrome dysfunction
Data demonstrate that FMR1 distributions do vary by race-ethnicity, even within the "normal" range. This study indicates the need to control for race-ethnicity in FMR1 ovarian aging research and provides race-ethnic population data for females separated by allele.
Fmr1 knockout (KO) mice show widespread changes in histone marks as well as transcriptional misregulation resulting in increased expression of many critical synaptic genes. Data suggest that one chromatin target of FMRP, the reader protein Brd4 (show BRD4 ELISA Kits), appears to be significantly involved in this transcriptional disruption.
The study establishes a functional/physical partnership between FMRP and TDP-43 (show TARDBP ELISA Kits) that mechanistically links several neurodevelopmental disorders and neurodegenerative diseases.
High CGG trinucleotide repeat expansion in FMR1 gene is associated with fragile X syndrome.
showing the potential of being applicable to other psychiatric disorders to identify endophenotype-specific responses relevant to neurobiology.-Napoli, E., Song, G., Schneider, A., Hagerman, R., Eldeeb, M. A. A. A., Azarang, A., Tassone, F., Giulivi, C. Warburg effect linked to cognitive-executive deficits in FMR1 premutation
Data show that EZH2 (show EZH2 ELISA Kits) plays a critical role in the FMR1 gene silencing process and that its inhibition can prolong expression of the FMR1 gene even in the presence of its transcript.
We identified thousands of clustered RNA editing sites in the zebrafish transcriptome and showed that Fmrp biochemically interacts with the Adar2a protein. The expression levels of the adar (show ADAR ELISA Kits) genes and Adar2 (show ADARB1 ELISA Kits) protein increased in fmr1-/- zebrafish
Loss-of-function fmr1 mutants carrying an anti-fmr1 miRNA transgene show abnormal neuronal morphology and connectivity similar to that seen in human fragile X syndrome.
Casein kinase II (show CSNK2A1 ELISA Kits) (CK2 (show CSNK2A1 ELISA Kits)) phosphorylates murine FMRP S499. Phosphorylation of FMRP S499 permits phosphorylation of additional, nearby residues. Evidence suggests that these nearby residues are modulated by mGluR (show GRM8 ELISA Kits)-I and PP2A pathways; that FMRP is peritranslationally phosphorylated by CK2 (show CSNK2A1 ELISA Kits), which allows for secondary phosphorylation of secondary residues in an activity-dependent manner.
FMR1 role in the excitability in hippocampal CA1 (show CA1 ELISA Kits) pyramidal cells
Fmr1-KO mice show significantly less daily movement during the dark cycle and more bouts of activity during the light cycle compared with wild types.
these findings support the notion of FMRP differential neuronal regulation and strongly implicate the contribution of fundamental sensory and motor processing at subcortical levels to fragile X syndrome pathology
In Fmr1 KO neurons, Mdm2 (show MDM2 ELISA Kits) is hyperphosphorylated, nuclear localized basally, and unaffected by MEF2 (show MEF2C ELISA Kits) activation, which our data suggest due to an enhanced interaction with Eukaryotic Elongation Factor (show TSFM ELISA Kits) 1alpha (EF1alpha), whose protein levels are elevated in Fmr1 KO. Expression of a dephosphomimetic of Mdm2 (show MDM2 ELISA Kits) rescues PSD-95 (show DLG4 ELISA Kits) ubiquitination, degradation and synapse elimination in Fmr1 KO neurons.
We show here that in mouse models PFC (show CFP ELISA Kits) dysfunction in Fragile X Syndrome (FX) can be attributed to the continued absence of FMRP from the PFC (show CFP ELISA Kits), independent of FMRP status during development.
Loss of the Fragile X mental retardation protein leads to excessive excitatory compared with inhibitory inputs in neurons extracting information about sound levels. Functionally, this elevated excitation results in increased firing rates, and abnormal coding of frequency and binaural sound localization cues. Imbalanced early-stage sound level processing could partially explain the auditory processing deficits in FXS.
The results of this study suggest dysregulated NMDARs in the pathophysiology of FXS leading to altered mGluR (show GRM8 ELISA Kits)-mediated Long-Term Depression.
FMRP mediates structural plasticity of olfactory bulb adult-born neurons to support olfactory learning through alphaCaMKII local translation.
This study demonstrated that astrocyte-specific Fmr1 conditional knock-out and restoration mice, and provided compelling evidence that the selective loss of astroglial FMRP contributes to cortical synaptic deficits in FXS.
The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene.
, Fragile-X mental retardation protein
, drosophila fragile X mental retardation protein
, fragile X
, fragile X mental retardation
, fragile X mental retardation 1
, fragile X mental retardation gene
, fragile X mental retardation protein
, fragile X protein
, fragile X related protein
, fragile X-related
, fragile x related
, fragile X mental retardation protein 1
, fragile X mental retardation protein 1 homolog
, fragile X mental retardation syndrome 1 homolog
, fragile X mental retardation-1 protein
, protein FMR-1
, ragile X mental retardation protein
, fragile X mental retardation 1 protein