FMR1, FMRP translational regulator 1, 2332

N. diseases: 346; N. variants: 10
Disease: Fragile X Syndrome ×
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 AlteredExpression disease BEFREE Matrix metalloproteinase 9 (MMP-9) is one of the proteins elevated in FXS, and minocycline reduces excess MMP-9 activity in the Fmr1 knockout mouse model of FXS. 20643379 2010
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease BEFREE Fragile X syndrome is caused by loss of expression of FMRP, a protein proposed to act as a regulator of mRNA translation which promotes synaptic maturation and function. 12498706 2002
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease BEFREE FXS is due to the silencing of the Fragile X Mental Retardation Protein (FMRP), an RNA binding protein mainly involved in translational control, dendritic spine morphology and synaptic plasticity. 27664080 2017
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease BEFREE Fragile X syndrome is caused by loss of FMR1 protein expression. 12446764 2002
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease BEFREE Unlike fragile X syndrome (FXS), FMR1 expression in response to α-syn was regulated by a mechanism involving Protein Kinase C (PKC) and cAMP response element-binding protein (CREB). 31768670 2020
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease BEFREE FMR1 is normally methylated during inactivation of the X chromosome in females and it is also methylated and inactivated upon expansion of CGG repeats in fragile-X syndrome. 9302255 1997
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease BEFREE FMR1 protein expression in blood smears for fragile X syndrome diagnosis in a Mexican population sample. 20642356 2010
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease BEFREE Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome. 10631132 2000
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease BEFREE The absence of either the neurodegenerative disorder or inclusions among adults with fragile X syndrome (who lack the FMR1 protein), coupled with elevated FMR1 mRNA with expanded CGG repeats in premutation carriers, has led us to propose an RNA toxic gain-of-function model for FXTAS. 17179750 2004
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease BEFREE The concomitant presence of features of FXS and late onset neurological deterioration with probable FXTAS likely result from a combined molecular pathology of elevated FMR1 mRNA levels, a molecular hallmark of FXTAS and low FMRP expression that leads to FXS. 25920745 2015
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 AlteredExpression disease BEFREE The early transcription of FMR-1 gene and the distribution of FMR-1 mRNAs in human fetuses suggest that alterations of FMR-1 gene expression may contribute to the pathogenesis of fragile-X syndrome and especially the mental retardation. 8348153 1993
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease BEFREE However, therapeutic utility of epigenetic editing-based systems has been lacking.A report in Cell (Liu et. al., 2018) shows that epigenetic editors can revert abnormal heterochromatin formation at the gene promoter leading to restoration of FMR1 gene expression, functionally rescuing fragile X syndrome (FXS), an otherwise unamenable genetic disorder. 29910019 2018
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease BEFREE Fragile X syndrome is caused by the transcriptional silencing of the FMR1 gene due to a trinucleotide repeat expansion. 9624140 1998
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease BEFREE To determine whether AFQ056 may have secondary effects on the methylation and transcription of FMR1, here we treated three FXS lymphoblastoid cell lines and one normal control male line. 22397687 2012
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease BEFREE Here we reveal that selective deficits in R1a subunit expression are seen in Fmr1 knock-out mice (KO) mice, a widely used animal model of FXS, but the levels of the respective mRNAs were unaffected. 28213518 2017
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease BEFREE In patients with fragile X syndrome, the expanded CGG triplet repeats are hypermethylated and the expression of the FMR1 gene is repressed, which leads to the absence of FMR1 protein (FMRP) and subsequent mental retardation. 10767313 2000
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease BEFREE Fragile X mental retardation 1 gene (FMR1) expression is associated with fragile X syndrome (FXS) and exhibits several splicing products. 25847585 2015
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease LHGDN Frontostriatal deficits in fragile X syndrome: relation to FMR1 gene expression. 14993603 2004
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease BEFREE Silencing of the fragile X mental retardation 1 (FMR1) gene leads to loss of expression of FMRP and upregulated metabotropic glutamate receptor 5 (mGluR5) signaling resulting in the multiple physical and cognitive deficits associated with fragile X syndrome (FXS). 25956630 2015
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease BEFREE Frontostriatal deficits in fragile X syndrome: relation to FMR1 gene expression. 14993603 2004
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease BEFREE Our previous work suggested that loss of FMRP-mediated regulation of protein expression and enzymatic function of the PI3K catalytic subunit p110β contributes to dysregulated protein synthesis in a mouse model of FXS. 22207187 2012
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease BEFREE During the 3-operand trials, activation in bilateral prefrontal and motor/premotor, and left supramarginal and angular gyri were positively correlated with FMRP, suggesting that decreased FMR1 protein expression underlies deficits in math performance in persons with fraX. 12112763 2002
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease BEFREE This report describes a study focused on the relationship between CGG repeat length, FMRP, mRNA levels and cognitive functioning in premutation carriers (PM) carriers of Fragile X Syndrome (FXS). 18563710 2009
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease BEFREE Residual levels of fragile X mental retardation protein (FMRP) expression explain in part the heterogeneity in the FXS phenotype; studies indicate a correlation with both cognitive and behavioral deficits. 24173622 2014