FMR1, FMRP translational regulator 1, 2332

N. diseases: 346; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 GeneticVariation disease BEFREE Fragile X mental retardation protein (FMRP), a causative gene (FMR1) product of Fragile X syndrome (FXS), is an RNA-binding protein to regulate local protein synthesis in dendrites for postsynaptic functions. 30240639 2019
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 AlteredExpression disease BEFREE Whether fragile X mental retardation protein (FMRP) target mRNAs and neuronal activity contributing to elevated basal neuronal protein synthesis in fragile X syndrome (FXS) is unclear. 30979884 2019
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 GeneticVariation disease BEFREE Prenatal diagnosis of fragile X syndrome: Small meiotic recombination events at the FMR1 locus. 30779209 2019
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 GeneticVariation disease BEFREE Lack or mutations of FMRP lead to Fragile X Syndrome (FXS), the most common form of inherited intellectual disability and a leading monogenic cause of autism spectrum disorder (ASD). 30905341 2019
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 PosttranslationalModification disease BEFREE Most cases of fragile X syndrome (FXS) result from aberrant methylation of the FMR1 gene. 31356000 2019
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 GeneticVariation disease BEFREE Fragile X syndrome (FXS) caused by loss of fragile X mental retardation protein (FMRP), is the most common cause of inherited intellectual disability. 30478144 2019
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 GeneticVariation disease BEFREE Fragile X syndrome (FXS) is the most common cause of inherited intellectual disabilities and autism spectrum disorders, and it is an X-linked disorder in which there is a deficiency of the fragile X mental retardation 1 protein. 30414172 2019
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 GeneticVariation disease BEFREE <b>Background</b>: Fragile X Syndrome (FXS), the most common cause of inherited intellectual disability (ID), is caused by a CGG repeat expansion (full mutation (FM), >200 CGG) at the Fragile X Mental Retardation 1 (FMR1) gene. 31159589 2019
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 Biomarker disease BEFREE Using metabolomics, in vivo metabolic phenotyping of the Fmr1-KO FXS mouse model and in vitro approaches, we show that the absence of FMRP induced a metabolic shift towards enhanced glucose tolerance and insulin sensitivity, reduced adiposity, and increased β-adrenergic-driven lipolysis and lipid utilization. 30686771 2019
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 Biomarker disease BEFREE Loss of regulated Cav2.3 expression could underlie the neuronal hyperactivity and aberrant calcium spiking in FMRP KO mice and contribute to FXS, potentially serving as a novel target for future therapeutic strategies.<b>SIGNIFICANCE STATEMENT</b> Patients with fragile X syndrome (FXS) exhibit signs of neuronal and circuit hyperexcitability, including anxiety and hyperactive behavior, attention deficit disorder, and seizures. 31350260 2019
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 GeneticVariation disease BEFREE Twenty children and adolescents (aged 6-17 years) with a diagnosis of FXS (confirmed through molecular documentation of FMR1 full mutation) were enrolled in an open-label, multi-site, trial of ZYN002. 31370779 2019
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 Biomarker disease BEFREE The functional absence of FMRP causes the fragile X syndrome (FXS), the most common form of inherited intellectual disability and the most common monogenic cause of autism. 30137253 2019
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 Biomarker disease BEFREE Numerous preclinical studies have supported the theory that enhanced activation of mGluR5 signaling, due to the absence or reduction of the FMR1 protein, contributes to cognitive and behavioral deficits in patients with fragile X syndrome (FXS). 30653533 2019
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 Biomarker disease BEFREE Synaptic plasticity, protein synthesis, and cellular growth pathways have been studied extensively in hippocampal slices from a mouse model of FXS (Fmr1 KO). 31539452 2019
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 Biomarker disease BEFREE In the Fmr1 knockout (KO) mouse model of FXS, cortical hyperexcitability is linked to sensory hypersensitivity and seizure susceptibility. 30726724 2019
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 Biomarker disease BEFREE Here, we also explore the possibility that recently reported missense mutations in the FMR1 gene disrupt the PTM homoeostasis of FMRP, thus participating in the aetiology of FXS. 31822816 2019
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 Biomarker disease BEFREE Wnd/DLK Is a Critical Target of FMRP Responsible for Neurodevelopmental and Behavior Defects in the Drosophila Model of Fragile X Syndrome. 31484070 2019
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 Biomarker disease BEFREE Our results from animals of both sexes suggest that the modulation of the Kv3.1 channel may have potential for the treatment of sensory hypersensitivity in patients with FXS.<b>SIGNIFICANCE STATEMENT</b> mRNA encoding the Kv3.1 potassium channel was one of the first described targets of the fragile X mental retardation protein (FMRP). 30936239 2019
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 GeneticVariation disease BEFREE FMR1 CGG trinucleotide repeat expansions are associated with Fragile X syndrome (full mutations) and primary ovarian insufficiency (premutation range); the effect of FMR1 on the success of fertility treatment is unclear. 30711457 2019
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 GeneticVariation disease BEFREE Mutations in FMR1 gene is the cause of Fragile X Syndrome (FXS) leading inherited cause of intellectual disability and autism spectrum disorders. 31280136 2019
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 Biomarker disease BEFREE In this review, we highlight these advances and discuss how these new findings could contribute to our understanding of FMRP in brain development and function, the neural pathology of fragile X syndrome, and perhaps impact of future therapeutic considerations. 29796988 2019
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 AlteredExpression disease BEFREE In aggregate, our study provides a novel approach to understand the molecular basis of FXS by linking the dysregulated synaptic expression of NLGNs with FMRP. 30056576 2019
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 Biomarker disease BEFREE Loss of function of FMRP causes fragile X syndrome, the most common form of inherited intellectual disability in humans. 31753916 2019
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 AlteredExpression disease BEFREE We found that the previously published Fmr1 knockout rat model of FXS expresses an Fmr1 transcript with an in-frame deletion of exon 8, which encodes for the K-homology (KH) RNA-binding domain, KH1. 30877790 2019
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 Biomarker disease BEFREE Similar changes are observed in the FXS model mouse - the Fmr1 knockout. 30639292 2019