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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Aug 2016.

Fragile X mental retardation 1

FMR1, FMRP, Fragile X Mental Retardation Protein, FRAXA
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. [provided by RefSeq, May 2010] (from NCBI)
Top mentioned proteins: CAN, AGE, HAD, OUT, V1a
Papers on FMR1
Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials.
von Raison et al., Chicago, United States. In Sci Transl Med, Feb 2016
Fragile X syndrome (FXS), the most common cause of inherited intellectual disability and autistic spectrum disorder, is typically caused by transcriptional silencing of the X-linked FMR1 gene.
Identification of microsatellite markers <1 Mb from the FMR1 CGG repeat and development of a single-tube tetradecaplex PCR panel of highly polymorphic markers for preimplantation genetic diagnosis of fragile X syndrome.
Chong et al., Singapore, Singapore. In Genet Med, Feb 2016
METHODS: An in silico search was performed to identify all markers within 1 Mb flanking the FMR1 gene.
[Triplet expansion cytosine-guanine-guanine: Three cases of OMIM syndrome in the same family].
López-Pisón et al., Zaragoza, Spain. In Med Clin (barc), Feb 2016
INTRODUCTION: The dynamic increase in the number of triplet repeats of cytosine-guanine-guanine (CGG) in the FMR1 gene mutation is responsible for three OMIM syndromes with a distinct clinical phenotype: Fragile X syndrome (FXS) and two pathologies in adult carriers of the premutation (55-200 CGG repeats): Primary ovarian insufficiency (FXPOI) and tremor-ataxia syndrome (FXTAS) associated with FXS.
Zfrp8 forms a complex with fragile-X mental retardation protein and regulates its localization and function.
Steward et al., United States. In Dev Biol, Feb 2016
The Fmr1 (Fragile-X Mental Retardation 1) gene is essential in humans and Drosophila for the maintenance of neural stem cells, and Fmr1 loss results in neurological and reproductive developmental defects in humans and flies.
Structural characterization of a dimer of RNA duplexes composed of 8-bromoguanosine modified CGG trinucleotide repeats: a novel architecture of RNA quadruplexes.
Gdaniec et al., Poznań, Poland. In Nucleic Acids Res, Feb 2016
UNASSIGNED: Fragile X syndrome and fragile X-associated tremor/ataxia syndrome (FXTAS) are neurodegenerative disorders caused by the pathogenic expansion of CGG triplet repeats in the FMR1 gene.
Human pluripotent stem cell models of Fragile X syndrome.
Zhao et al., Madison, United States. In Mol Cell Neurosci, Dec 2015
The causal mutation in FXS is a trinucleotide CGG repeat expansion in the FMR1 gene that leads to human specific epigenetic silencing and loss of Fragile X Mental Retardation Protein (FMRP) expression.
Epigenetic modifications in human fragile X pluripotent stem cells; Implications in fragile X syndrome modeling.
Gerhardt, United States. In Brain Res, Nov 2015
FXS is caused by a trinucleotide repeat expansion, which leads to silencing of the fragile X mental retardation (FMR1) gene.
Dysregulation and restoration of translational homeostasis in fragile X syndrome.
Klann et al., Worcester, United States. In Nat Rev Neurosci, Oct 2015
Fragile X syndrome (FXS), the most-frequently inherited form of intellectual disability and the most-prevalent single-gene cause of autism, results from a lack of fragile X mental retardation protein (FMRP), an RNA-binding protein that acts, in most cases, to repress translation.
First glimpses of the neurobiology of autism spectrum disorder.
Sanders, San Francisco, United States. In Curr Opin Genet Dev, Aug 2015
Both gene sets are also regulatory targets of the ASD genes CHD8 and FMRP.
Epigenetics and Triplet-Repeat Neurological Diseases.
Festenstein et al., London, United Kingdom. In Front Neurol, 2014
The association between repetitive regions and disease was emphasized following the discovery of abnormal trinucleotide repeats underlying spinal and bulbar muscular atrophy (Kennedy's disease) and fragile X syndrome of mental retardation (FRAXA) in 1991.
The contribution of de novo coding mutations to autism spectrum disorder.
Wigler et al., New York City, United States. In Nature, 2014
LGD targets in the joint class overlap with published targets for intellectual disability and schizophrenia, and are enriched for chromatin modifiers, FMRP-associated genes and embryonically expressed genes.
SnapShot: FMRP interacting proteins.
Bagni et al., Leuven, Belgium. In Cell, 2014
The Fragile X syndrome, caused by the absence or mutation of fragile X mental retardation protein, FMRP, is a the common component of inherited intellectual disability and autism.
SnapShot: FMRP mRNA targets and diseases.
Bagni et al., Leuven, Belgium. In Cell, 2014
FMRP, or fragile X mental retardation protein is an RNA-binding protein.
New X-chromosomal interactors of dFMRP regulate axonal and synaptic morphology of brain neurons in Drosophila melanogaster.
Genova et al., Sofia, Bulgaria. In Biotechnol Biotechnol Equip, 2014
UNASSIGNED: Fragile X syndrome is a neuro-developmental disease caused by transcriptional inactivation of the gene FMR1 (fragile X mental retardation 1) and loss of its protein product FMRP.
A chromatin-dependent role of the fragile X mental retardation protein FMRP in the DNA damage response.
Shi et al., Boston, United States. In Cell, 2014
Fragile X syndrome, a common form of inherited intellectual disability, is caused by loss of the fragile X mental retardation protein FMRP.
15q11.2 microdeletion and FMR1 premutation in a family with intellectual disabilities and autism.
Milà et al., Barcelona, Spain. In Gene, 2012
15q11.2 microdeletion and FMR1 premutation is associated with intellectual disabilities and autism.
Prevalence of CGG expansions of the FMR1 gene in a US population-based sample.
Mandel et al., Madison, United States. In Am J Med Genet B Neuropsychiatr Genet, 2012
The primary goal of this study was to calculate the prevalence of the premutation of the FMR1 gene and of the "gray zone" using a population-based sample of older adults in Wisconsin.
Neurodegeneration-associated TDP-43 interacts with fragile X mental retardation protein (FMRP)/Staufen (STAU1) and regulates SIRT1 expression in neuronal cells.
Wang et al., Beijing, China. In J Biol Chem, 2012
TDP-43 is physically associated with fragile X mental retardation protein (FMRP) and Staufen (STAU1) to form a functional complex.
LTP induction translocates cortactin at distant synapses in wild-type but not Fmr1 knock-out mice.
Gall et al., Irvine, United States. In J Neurosci, 2012
results demonstrate that TBS causes rapid reductions in cortactin levels at excitatory synapses in adult hippocampus of WT, but not Fmr1 KO, mice.
Fragile X-associated tremor/ataxia syndrome.
Claikens et al., Oostende, Belgium. In Jbr-btr, 2012
Fragile X-associated tremor/ataxia syndrome occurs in male carriers of a premutation expansion of the FMR1 gene.
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