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DTor and DFMRP immunoreactivities were partially colocalized in several cellular organelles in larval muscles
Fmr1 protein associates with ninaE (显示 RHO 蛋白) mRNA and represses its translation.
Our data strongly support a gain-of-function pathogenic mechanism of PQBP1 (显示 PQBP1 蛋白) 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 (显示 TARDBP 蛋白) overexpression
demonstrate that Zfrp8 genetically interacts with Fmr1 and tral (显示 LSM14A 蛋白) 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 (显示 H2AFV 蛋白).
The naturally occurring Fragile XFMR1 5' region undergoes inactivation post implantation in a Dicer (显示 DICER1 蛋白)/Ago-dependent targeted process which involves local SUV39H (显示 SUV39H1 蛋白)-mediated tri (显示 VANGL2 蛋白)-methylation of histone H3K9. Fragile X syndrome may come about through inadvertent siRNA-mediated heterochromatinization.
The learning disability fragile X syndrome results from the presence of >200 CGG/CCG repeats in exon 1 of the X-linked gene FMR1. Such alleles arise by expansion from maternally transmitted FMR1 premutation alleles, alleles having 55 to 200 repeats. Expansion risk is directly related to maternal repeat number. However, AGG interruptions to the repeat tract are important modifiers of expansion risk.
Women who carry a fragile X premutation, defined as having 55-200 unmethylated CGG repeats in the 5' UTR of the X-linked FMR1 gene, have a 20-fold increased risk for primary ovarian insufficiency .This study supports the idea of a relationship between a fragile X premutation and accelerated biological aging and could be the basis of future studies aimed to better understand the role of this mutation on cellular senescence
Studies indicate the relationship between Fragile X mental retardation 1 (Fmr1) and non-coding RNA pathways, suggesting molecular pathogenesis of Fragile X syndrome, and potential translational applications in clinical management of the disease [Review].
In women with the FMR1 premutation, elevated optimism may reduce the occurrence or severity of MDD and anxiety disorders.
Eight of the 14 fetuses that inherited the maternal mutant allele were verified to have a full mutation, with the smallest maternal pre-mutation allele of the FMR1 gene carrying 56 CGG repeats. The overall findings confirmed that the carrier prevalence among low-risk women in Taiwan is significantly lower than that reported in western countries
The results show that SMNDC1 (显示 SMNDC1 蛋白) mRNA 5'-UTR forms an intramolecular, parallel G quadruplex structure comprised of three G quartet planes, which is bound specifically by FMRP both in vitro and in mouse brain lysates.
The results of this study findings reveal domain-specific functions of FMRP in the regulation of axonal complexity that may be controlled by differential expression of FMRP splice forms.
our study shows that increased expression of FMRP, an important RNA binding protein, is associated with increased astrocytoma proliferation.
The characterization of the expression levels of the different FMR1 isoforms is fundamental for understanding the regulation of the FMR1 gene as imbalance in their expression could lead to an altered functional diversity with neurotoxic consequences. Their characterization will also help to elucidating the mechanism(s) by which "toxic gain of function" of the FMR1 mRNA may play a role in Fragile X-associated tremorAtaxia.
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 (显示 ADAR 蛋白) genes and Adar2 (显示 ADARB1 蛋白) 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.
Fmr1 regulates stability of Myf5 (显示 MYF5 蛋白) mRNA and skeletal muscle cell renewal.
The results of this study found decreases in either glycinergic or GABAergic inhibition to the medial nucleus of the trapezoid body (MNTB) specific to the tonotopic location within the nucleus in Fmr1 knockout mice.
mGluR5 (显示 GRM5 蛋白) was significantly more mobile at synapses in hippocampal Fmr1 KO neurons, causing an increased synaptic surface co-clustering of mGluR5 (显示 GRM5 蛋白) and NMDAR (显示 GRIN1 蛋白).
Using the Fmr1 null mouse model of fragile X syndrome, brain regions, gene networks, and molecular pathways responsive to a social stimulus have been identified.
This study demonstrated that In vivo recordings from barrel cortex revealed that Fmr1 KO mice show an enlargement in the cortical area activated by whisker deflections.
The data of this study suggested that NMDAR (显示 GRIN1 蛋白) hypofunction in the DG may partly contribute to learning and memory impairment in female Fmr1(+/-) mice
This study shown a clear reduction in the frequency and duration of calls for FMR1 KOs compared with WT across all days and also a significant difference in vocalizations between male and female mice.
APP levels then decrease progressively as a function of age in close relationship with the gradual normalization of FMRP and hnRNP C levels.
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