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suggest that miR-219 regulates dFMR1 expression in Drosophila and is involved in fragile X syndrome pathogenesis
Authors demonstrate that under supersaturating conditions, dfmr1 mutant mitochondria have significantly increased maximum electron transport system (ETS) capacity.
Stored oocytes lacking FMR1 usually generate embryos with severe neural defects, unlike stored wild-type oocytes, which suggests that translation of multiple large proteins by stored mRNAs is defective in fragile X syndrome and possibly other autism spectrum disorders.
This FMRP activity is mediated solely via a second conserved RNA-binding protein, LIN-28, known to boost insulin signaling in stem cells. Via LIN-28, FMRP controls progenitor cell behavior by post-transcriptionally repressing the level of insulin receptor (InR).
DTor and DFMRP immunoreactivities were partially colocalized in several cellular organelles in larval muscles
Synaptic release of neuropeptides and neurotrophins depends on presynaptic accumulation of dense-core vesicles (DCVs). At rest, DCVs are captured bidirectionally as they circulate through Drosophila motoneuron terminals by anterograde and retrograde transport. Here we show that activity stimulates further synaptic capture that is distinguished from basal capture by its selectivity for anterograde DCVs and its inhibition b
Fmr1 protein associates with ninaE mRNA and represses its translation.
Our data strongly support a gain-of-function pathogenic mechanism of PQBP1 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 overexpression
demonstrate that Zfrp8 genetically interacts with Fmr1 and tral 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.
Driving expression of FMRpolyG enhanced induction of UPS impairment in cell models, while prevention of RAN translation attenuated UPS impairment in cells and suppressed the genetic interaction with UPS manipulation in Drosophila
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.
The results of this study show that GABAergic circuit structure and function are impaired in the FXS disease state
FMRP inhibits translation by binding directly to the L5 protein on the 80S ribosome.
FMRP negatively regulates HSPG co-receptors controlling trans-synaptic signaling during synaptogenesis
FMRP and Ataxin-2 have roles in long-term olfactory habituation and neuronal translational control
Various CGG expansions of the FMR1 allele may lead to changes of RNA levels and ratios of distinct FMRP RNA isoforms, which could regulate the translation and/or cellular localization of FMRP, affect the expression of steroidogenic enzymes and hormonal receptors, or act in some other epigenetic process and therefore result in the ovarian dysfunction in infertility.
FMR1 pan-ethnic premutation Fragile X syndrome carrier frequency was 1 in 20.
These data do not support the causative link between premutationand "gray zone" expansions (of the FMR1 gene )and developmental-delay phenotypes in pediatric settings
This is the first study to establish a stem cell model aimed to understand FMR1 CGG repeat instability amongst female premutation carriers
fragile X mental retardation protein (FMRP) as a ZIKV subgenomic flaviviral RNA-binding protein and confirmed this interaction in cultured cells and mouse testes.
Our study thus takes one more step toward the identification of dynamic, unconventional DNA structures across the G-rich repeats at FMR1 and C9orf72 disease-associated loci.
Combining genetic knockdown of GKAP and pharmacological inhibition of NMDAR, study implicates FMRP and HSF1 as downstream effectors, which along with GKAP demonstrably support invasiveness of PanNET and pancreatic ductal adenocarcinoma cancer cells.
We measured the rate of protein synthesis in fibroblasts derived from 32 individuals with Fragile X syndrome (FXS) and from 17 controls as well as in fibroblasts and primary neurons of 27 Fmr1 KO mice and 20 controls. Here, we show that levels of protein synthesis are increased in fibroblasts of individuals with FXS and Fmr1 KO mice
Results provide evidence that the developmental delay is the cumulative result of a methylated FMR1 full mutation on the active X-chromosome and the inactivation of the other homologue carrying de novo 439 kb deletion.
At the molecular level, Fragile X-associated tremor/ataxia syndrome is characterized by increased expression of FMR1 sense and antisense RNA containing expanded CGG or GGC repeats, respectively
This study used the functional imaging to demonstrated that the Age-related functional brain changes in FMR1 premutation carriers.
demethylation of the CGG expansion is sufficient for FMR1 reactivation, suggesting potential therapeutic strategies for Fragile X syndrome.
CGG repeat length and FMR1 mRNA levels were not associated with performance on any gait domain in Fragile X-associated tremor ataxia syndrome (FXTAS).
The knockdown of FMRP induced miR-181a expression and contributed to endothelial cell proliferation and angiogenesis. Authors identified CaM as a downstream target of miR-181a in endothelial cells.
Study found no significant relationship between the longitudinal changes of the CGG repeat in the FMR1 promoter region and premature ovarian failure etiology which can be attributed to the genetic heterogeneity nature of the disease, the possible involvement of the other genomic variations with the ovarian function and the reproductive health.
Agenet domain of FMRP binds FUS.
Our male patient had a pattern of the FMR1 size mosaic with both premutation (129 CGG) and full mutation (over 200) fragments
AKT inhibition led to decreased FMRP levels, as expected due to the known FMR1/FMRP negative feedback loop. But rFSH and the mTOR inhibition increased them, indicating a decoupling of this FMR1/FMRP negative feedback loop in our model system
Fragile X-associated disorders encompass several conditions, which are caused by expansion mutations in the fragile X mental retardation 1 (FMR1) gene.
We demonstrate that romidepsin, an inhibitor of class I histone deacetylases, does not activate FMR1 expression in patient cell cultures, whereas vorinostat, an inhibitor of classes I and II histone deacetylases, activates a low level of FMR1 expression in some patient cell lines
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 genes and Adar2 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.
Data suggests mitochondrial dysfunction as a contributor to the impaired dendritic maturation of fragile X mental retardation protein (FMRP)-deficient neurons and suggest a role for interactions between FMRP and Huntingtin in the pathogenesis of fragile X syndrome.
This study show that the mossy fiber synapse is altered during development in the FXS mouse model.
These data together suggest that FMRP regulates the stability of its m6A-marked mRNA targets through YTHDF2, which could potentially contribute to the molecular pathogenesis of Fragile X syndrome.
indicate a small but significant change in the average spine volume and more eminent differences in the statistical distribution in Fmr1 knock-out mice even in adulthood, which reflects the abnormal in vivo dynamics of spine volumes
FMRP controls diverse transcriptional and posttranscriptional gene expression programs critical for neural differentiation.
This study demonstrated that the time course of development of inhibition onto Adult Born Dentate Granule Neurons is altered in Fmr1 KO mice.
We found that the impaired homeostatic synaptic downscaling in Fmr1 KO neurons is caused by loss-of-function dephosphorylation of an epilepsy-associated ubiquitin E3 ligase, neural precursor cell expressed developmentally down-regulated gene 4-2, Nedd4-2. Such dephosphorylation of Nedd4-2 is surprisingly caused by abnormally stable tumor suppressor p53 and subsequently destabilized kinase Akt.
as deficits in social behaviors seem to occur independently from each other in FMRP and Slack null mutants, we conclude that Slack is not involved in the autistic phenotype of FMRP KO mice.
loss of FMRP leads to the abnormal function and localization of kainite receptors.
Study in mouse model of fragile X syndrome reveals a role for FMRP and histone acetylation in cognition. The loss of FMRP resulted in elevated protein synthesis of histone acetyltransferase EP300 and downregulation of histone deacetylase HDAC1 through ubiquitin-mediated degradation.
Interplay between FMRP and lncRNA TUG1 regulates axonal development through mediating SnoN-Ccd1 pathway
Study found delays in auditory brainstem nucleus development and imbalances in synaptic input, which potentially contribute to the hyperacusis found in adult Fmr1 KO mice. Findings show developmental effects at very young ages, implying that early developmental events initiate some of the auditory phenotypes in fragile X syndrome.
Data show in fragile X mental retardation syndrome 1 protein (Fmr1) knockout neurons, type 1 adenylyl cyclase (Adcy1) mRNA translation is enhanced, leading to excessive production of ADCY1 protein and insensitivity to neuronal stimulation.
Findings provide evidence that the complete loss of functional FMR1 protein and change in mTOR signaling, results in the premature recruitment and depletion of the primordial follicle pool in a novel Fmr1 KO mouse model.
FMRP inhibits ADAR2 activity, absence of FMRP results in defects of RNA editing of neuronal mRNAs in the mouse model of Fragile X Syndrome.
this study establishes that reducing STEP activity with TC-2153 in Fmr1 KO mice reduces AGS susceptibility, improves electrophysiologic and synaptic deficits, and normalizes select social and nonsocial anxiety-related behaviors.
Results indicate several sex-specific changes in Fmr1 knockout mice, including male-specific increases in activity levels, and female-specific increases in repetitive behaviors on both the nose-poke assay and motor coordination on the accelerating rotarod task.
The naturally occurring Fragile XFMR1 5' region undergoes inactivation post implantation in a Dicer/Ago-dependent targeted process which involves local SUV39H-mediated tri-methylation of histone H3K9. Fragile X syndrome may come about through inadvertent siRNA-mediated heterochromatinization.
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