Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
FXS is typically caused by the loss of fragile X mental retardation 1 (FMR1) expression, which codes for the RNA-binding protein FMRP.
|
23235829 |
2012 |
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Fragile X syndrome is caused by loss of function of a single gene encoding the Fragile X Mental Retardation Protein (FMRP).
|
24204304 |
2013 |
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Furthermore, they strengthen the connection between fragile X syndrome and loss of the RNA binding activity of FMR1.
|
8156595 |
1994 |
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Fragile X mental retardation syndrome is caused by the unstable expansion of a CGG repeat in the FMR-1 gene.
|
8401578 |
1993 |
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Here, we present an X-ray crystal structure of the tandem KH domains of human FMRP, which reveals the relative orientation of the KH1 and KH2 domains and the location of residue Ile304, whose mutation to Asn is associated with a particularly severe incidence of Fragile X syndrome.
|
17850748 |
2007 |
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Transport kinetics of FMRP containing the I304N mutation of severe fragile X syndrome in neurites of living rat PC12 cells.
|
15380484 |
2004 |
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
In over two decades since the discovery of FMR1, only a single missense mutation (p.(Ile304Asn)) has been reported as causing fragile X syndrome.
|
24448548 |
2014 |
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A point mutation (I304N) in the KH2 domain, identified from a Fragile X syndrome patient, disrupts the FMRP-nucleoprotein association and abolishes the ability of FMRP to participate in viral RNP assembly.
|
24514761 |
2014 |
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We further suggest that the failure of FMRP to oligomerize, caused by the I304N mutation, may contribute to the pathophysiological events leading to fragile X syndrome.
|
11157796 |
2001 |
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
In the absence of FMRP, these same mRNAs may be partially translated via alternative mRNPs, although perhaps abnormally localized or regulated, resulting in typical fragile X syndrome.
|
9659908 |
1997 |
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Fragile X syndrome is caused by the absence of the fragile X mental retardation protein (FMRP).
|
10196376 |
1999 |
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
These findings demonstrate that FMR1 expression is directly correlated with the fragile X syndrome and suggest that anti-FMR1 antibodies will be important for diagnosis of fragile X syndrome.
|
7688265 |
1993 |
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
These findings suggest that nuclear FMRP regulates genomic stability at the chromatin interface and may impact gametogenesis and some developmental aspects of fragile X syndrome.
|
24813610 |
2014 |
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We propose a contribution of Tdrd3 to FMRP-mediated translational repression and suggest that the loss of the FMRP-Tdrd3 interaction caused by the I304N mutation might contribute to the pathogenesis of Fragile X syndrome.
|
18664458 |
2008 |
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
In vitro and in cellulo evidences for association of the survival of motor neuron complex with the fragile X mental retardation protein.
|
18093976 |
2008 |
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
These results reveal a presynaptic- and translation-independent function of FMRP that is linked to a specific subset of FXS phenotypes.
|
25561520 |
2015 |
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We conclude that mental retardation associated with the I304N mutation, and likely the Fragile-X syndrome more generally, may relate to a crucial role for RNAs harboring the kissing complex motif as targets for FMRP translational regulation.
|
15805463 |
2005 |
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Our results suggest that mutations in FMR-1 are directly responsible for fragile X syndrome, irrespective of possible secondary effects caused by FRAXA.
|
8490650 |
1993 |
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The identity of these proteins was confirmed by their absence in tissues from patients with the fragile X syndrome and a FMR1 knock-out mouse.
|
7633450 |
1995 |
Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome.
|
8069307 |
1994 |
Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
We screened a cohort of patients with typical FXS symptoms who tested negative for CGG repeat expansion in the FMR1 locus.
|
25693964 |
2015 |
Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
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 |
Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome.
|
8490651 |
1993 |
Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Mice with deletion of the fragile X mental retardation 1 (Fmr1) gene are used to model autism because loss of Fmr1 gene function causes Fragile X Syndrome (FXS) and many people with FXS exhibit autistic-like behaviors.
|
20300527 |
2010 |
Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n.
|
1675488 |
1991 |