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Fragile X Mental Retardation Protein (0):
Recent article
Fragile X Mental Retardation Protein
Journal of Cell Biology (194)3 2011
Abstract
We find here that in a key dendritic RNA transport pathway (exemplified by BC1 RNA, a dendritic regulatory RNA, and protein kinase M ζ [PKMζ] mRNA, a dendritic mRNA), noncanonical purine•purine nucleotide interactions are functional determinants of RNA targeting motifs. These motifs are specific...
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PMID: 21807882
PDF is available here.
PDF is available here.
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Abstract
We examined whether a receptor subtype-selective inhibitor of mGluR5, AFQ056, improves the behavioral symptoms of FXS in a randomized, double-blind, two-treatment, two-period, crossover study of 30 male FXS patients aged 18 to 35 years. We detected no significant effects of treatment on the primary...
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PMID: 21209411
PDF is available here.
PDF is available here.
Abstract
We studied their expression in a conditional Dicer knockdown cell line, DT40. We found that FXR1P, but not FMRP, is significantly increased upon Dicer knockdown and the consequent reduction of miRNAs, suggesting that FXR1P is regulated by miRNAs while FMRP is not in DT40 cells. Expression of a lucif...
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PMID: 20519410
PDF is available here.
PDF is available here.
Nature Neuroscience (13)7 2010
Abstract
We found that FMRP binds to the C terminus of the Slack sodium-activated potassium channel to activate the channel in mice. Our findings suggest that Slack activity provides a link between patterns of neuronal firing and changes in protein translation....
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PMID: 20512134
PDF is available here.
PDF is available here.
Abstract
We find mGluR-dependent long-term potentiation to be impaired at thalamic inputs to principal neurons in the lateral amygdala. Consistent with this long-term potentiation deficit, surface expression of the AMPA receptor subunit, GluR1, is reduced in the lateral amygdala of knockout mice. In addition...
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PMID: 20534533
PDF is available here.
PDF is available here.
Abstract
We present evidence that the RNA-binding proteins (RBPs) heterogeneous nuclear ribonucleoprotein (hnRNP) C and fragile X mental retardation protein (FMRP) associate with the same APP mRNA coding region element, and they influence APP translation competitively and in opposite directions. Silencing hn...
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PMID: 20473314
PDF is available here.
PDF is available here.
Abstract
We examined voxel-wise gray and white matter volumes (GMV, WMV) over a 2-year period in 1- to 3-year-old boys with FXS (n = 41) and compared these findings to age- and developmentally matched controls (n = 28). We found enlarged GMV in the caudate, thalamus, and fusiform gyri and reduced GMV in the...
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PMID: 20439717
PDF is available here.
PDF is available here.
Journal of Neuroscience (30)19 2010
Abstract
We show that two isoforms of Drosophila melanogaster FMRP (dFMR1) have differential roles in mediating neural development and behavior functions conferred by the dfmr1 gene. These isoforms differ in the presence of a protein interaction module that is related to prion domains and is functionally con...
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PMID: 20463240
PDF is available here.
PDF is available here.
Abstract
We present a family with one patient with mild mental retardation who showed an atypical profile at Southern analysis due to the -413C > G transversion located in the FMR1 promoter which had been described as possibly associated with mental retardation. We demonstrated this variant in other four fam...
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PMID: 19836446
PDF is available here.
PDF is available here.
Abstract
I will then briefly highlight some outstanding questions about the developmental roles of FMRP and their possible relationship to symptoms found in adults with FXS....
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PMID: 20298211
PDF is available here.
PDF is available here.
Abstract
Abstract
Healthy women who carry a ''premutation'' in the FMR1 gene (or fragile X mental retardation protein) can pass on a further mutated copy of FMR1 to either male or female offspring, leading to fragile X syndrome (FXS). Premutation carriers do not have manifestations of FXS in cognitive...
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PMID: 20494258
PDF is available here.
PDF is available here.
Abstract
We report on the fortuitous finding of a paternal premutation of the FMR1 gene during prenatal diagnosis in a female fetus whose mother was known to be a premutation carrier. Analysis of the DNA, extracted from cultured cells obtained by chorionic villus sampling, demonstrated the presence in the fe...
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PMID: 20082462
PDF is available here.
PDF is available here.
Abstract
We used tissue-targeted transgenic expression of all three human genes in the Drosophila disease model to investigate function at (1) molecular, (2) neuronal and (3) non-neuronal levels. In neurons, dfmr1 null mutants exhibit elevated protein levels that alter the central brain and neuromuscular jun...
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PMID: 20442204
PDF is available here.
PDF is available here.
BMC Neuroscience (11) 2010
Abstract
We used a co-culture technique in combination with morphometrics on immunostained neurons to investigate the role of astrocytes in the development delays associated with hippocampal neuron development.
We found that hippocampal neurons grown on Fragile X astrocytes exhibited a significant difference...
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PMID: 20955577
PDF is available here.
PDF is available here.
Abstract
We demonstrate that AD (Tg2576) and DS (Ts65Dn) mice exhibit audiogenic seizures, which can be attenuated with antagonists to metabotropic glutamate receptor 5 (mGluR5) or by passive immunization with anti-amyloid-beta antibody. Our data strongly implicates AbetaPP or a catabolite in seizure suscept...
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PMID: 20413855
PDF is available here.
PDF is available here.
Abstract
Amongst candidates mean as-AMH was 3.8 +/- 2.8 ng/mL (37.0% normal, 3.0 +/- 0.7 ng/mL; 26.6% low, 1.5 +/- 0.5 ng/mL; and 37.0% high, 5.8 +/- 2.2 ng/mL). AMH among donors was 4.2 +/- 1.7 ng/mL (33.3% normal, 14.3% low, and 52.4% high), yielding 17.8 +/- 7.2 oocytes, 42.9% in normal range (10-15), 9.5...
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PMID: 20576154
PDF is available here.
PDF is available here.
Abstract
We examined the repeat length group, FMR1 transcript and FMRP levels in 74 males with a wide range of repeat lengths using analysis of covariance to better characterize this association. Results showed that the mean FMRP level among carriers with 80-89 repeats was significantly higher than the mean...
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PMID: 19927162
PDF is available here.
PDF is available here.
Fiziologiia cheloveka (36)3 2010
Abstract
We demonstrate the importance of complex neurophysiological, neuropsychological and clinical psychological investigation for establishing the reasons for school difficulties....
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PMID: 20586304
PDF is available here.
PDF is available here.
Molecules and Cells (28)6 2009
Abstract
We will focus on recent studies reported in the prefrontal cortex, including the anterior cingulate cortex (ACC). We hypothesize that alterations in ACC-related plasticity and synaptic modulation may contribute to various forms of cognitive deficits associated with FXS....
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PMID: 20047076
PDF is available here.
PDF is available here.
Molecules and Cells (28)6 2009
Abstract
We will focus on recent studies reported in the prefrontal cortex, including the anterior cingulate cortex (ACC). We hypothesize that alterations in ACC-related plasticity and synaptic modulation may contribute to various forms of cognitive deficits associated with FXS....
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PMID: 20047076
PDF is available here.
PDF is available here.
Molecules and Cells (28)6 2009
Abstract
We will focus on recent studies reported in the prefrontal cortex, including the anterior cingulate cortex (ACC). We hypothesize that alterations in ACC-related plasticity and synaptic modulation may contribute to various forms of cognitive deficits associated with FXS....
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PMID: 20047076
PDF is available here.
PDF is available here.
Molecules and Cells (28)6 2009
Abstract
We will focus on recent studies reported in the prefrontal cortex, including the anterior cingulate cortex (ACC). We hypothesize that alterations in ACC-related plasticity and synaptic modulation may contribute to various forms of cognitive deficits associated with FXS....
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PMID: 20047076
PDF is available here.
PDF is available here.
Molecules and Cells (28)6 2009
Abstract
We will focus on recent studies reported in the prefrontal cortex, including the anterior cingulate cortex (ACC). We hypothesize that alterations in ACC-related plasticity and synaptic modulation may contribute to various forms of cognitive deficits associated with FXS....
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PMID: 20047076
PDF is available here.
PDF is available here.
Molecules and Cells (28)6 2009
Abstract
We will focus on recent studies reported in the prefrontal cortex, including the anterior cingulate cortex (ACC). We hypothesize that alterations in ACC-related plasticity and synaptic modulation may contribute to various forms of cognitive deficits associated with FXS....
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PMID: 20047076
PDF is available here.
PDF is available here.
Abstract
Of the selected 179 children, six were diagnosed as Down syndrome, one as cerebral palsy and 140 as non-syndromic MR. These 140 children with MR were grouped as mild (56), moderate (60), and severely (4) retarded based on IQ; children <5 yr were grouped as developmental delay (20). FRAXA was not det...
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PMID: 20090132
PDF is available here.
PDF is available here.
Abstract
We present a 60-year-old woman with FMR1 premutation who had depression, anxiety, and conversion disorder with seizures. The FMR1 premutation with its associated mRNA toxicity is postulated as an underlying neurobiological mechanism of conversion symptoms, through functional and structural neural dy...
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PMID: 19842197
PDF is available here.
PDF is available here.
Abstract
We investigated the association of the full mutation and mosaic Turner syndrome using polymorphisms and single cell cloning to identify the X chromosome that was lost. Our analysis indicates that at least four of the five full mutation mosaicism cases were due to loss of the maternal, full mutation...
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PMID: 19764037
PDF is available here.
PDF is available here.
Abstract
The CGG repeat stretch in the FMR1 gene is polymorphic, ranging from 5 to 50 repeats in the normal population. Expansion of the repeats to the premutation range (50-200) has been associated with premature ovarian failure (POF). This case-control study was conducted to enumerate CGG repeats in the FM...
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PMID: 19712568
PDF is available here.
PDF is available here.
Neurobiology of Disease (35)2 2009
Abstract
We examined the role of functional domains of FMRP in neuronal RNA-granule formation and dendritic transport using different FMRP variants, including the mutant FMRP_I304N and the splice-variant FMRP_Iso12. Both variants are absent from dendritic RNA-granules in Fmr1 knockout neurons. Co-transfectio...
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PMID: 19464371
PDF is available here.
PDF is available here.
Journal of Autoimmunity (33)1 2009
Abstract
We discuss the X chromosome abnormalities that are associated with POI....
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PMID: 19346101
PDF is available here.
PDF is available here.
Journal of Biological Chemistry (284)28 2009
Abstract
We demonstrate that stimulating Group I mGluRs activates Ca(2+)/calmodulin-dependent protein kinase IV (CaMKIV) in ACC neurons. In ACC neurons of adult mice overexpressing CaMKIV, the up-regulation of FMRP by stimulating Group I mGluR is enhanced. The enhancement occurs at the transcriptional level...
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PMID: 19436069
PDF is available here.
PDF is available here.
Abstract
We propose a novel mass spectrometry (MS) based method for the rapid identification of expanded CGG repeats to complement a recently described polymerase chain reaction (PCR) method for large population screening. In this combined approach, the optimized PCR method is used to amplify the relevant re...
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PMID: 19514725
PDF is available here.
PDF is available here.
Abstract
Even minimal evidence of abnormal autoimmune function ("immunological noise") seems to increase risk toward premature ovarian aging, often manifesting as infertility. Evidence of abnormal autoimmune function, such as increased CGG triple expansion sizes, in young women, therefore, warrants vigilance...
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PMID: 19197218
PDF is available here.
PDF is available here.
Cerebral Cortex (19)7 2009
Abstract
Human Molecular Genetics (18)13 2009
Abstract
These results demonstrate that rCGG expressed in Purkinje neurons outside the context of Fmr1 mRNA can result in neuronal pathology in a mammalian system and demonstrate that expanded CGG repeats in RNA are the likely cause of the neurodegeneration in FXTAS....
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PMID: 19377084
PDF is available here.
PDF is available here.
Neurobiology of Disease (35)1 2009
Abstract
We investigated the distribution of Fmr1 exon 12 and exon 15 isoforms. Exon 12 encodes an extension of KH(2) domain, one of the RNA binding domains in the FMR1 gene product (FMRP) and we show that exon 12 variant proteins differentially interact with kissing complex RNA. Alternative splicing at exon...
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PMID: 19362146
PDF is available here.
PDF is available here.
Behavioral Neuroscience (123)3 2009
Abstract
Fragile X syndrome, a form of mental retardation caused by inadequate levels of fragile X mental retardation protein (FMRP), is characterized by extreme sensitivity to sensory stimuli and increased behavioral and hormonal reactivity to stressors. Fmr1 knockout mice lack FMRP and exhibit abnormal res...
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PMID: 19485574
PDF is available here.
PDF is available here.
Nucleic Acids Research (37)8 2009
Abstract
We demonstrated previously that premutation r(CGG)(n) tracts formed quadruplex structures that impeded translation and lowered the efficiency of protein synthesis. Normal translation could be restored in vivo by the quadruplex r(CGG)(n) destabilizing action of CBF-A and hnRNP A2 proteins. Here we re...
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PMID: 19273535
PDF is available here.
PDF is available here.
Biochemical Journal (419)2 2009
Abstract
We describe how we have produced overlapping recombinant fragments of human FMRP and its paralogues which encompass the evolutionary conserved region. We have studied their behaviour in solution by complementary biochemical and biophysical techniques, identified the regions which promote self-associ...
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PMID: 19143590
PDF is available here.
PDF is available here.
Harvard Mental Health Letter (25)10 2009
Abstract
Abstract
We measured choline in the dorsolateral prefrontal cortex of nine males with FRAX and 9 age-matched typically developing controls using (1)H magnetic resonance spectroscopy. Right choline/creatine was significantly reduced in the fragile X group compared to controls. In controls, both left and right...
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PMID: 19215057
PDF is available here.
PDF is available here.
Abstract
Fragile X syndrome is the most common form of inherited mental retardation. It is typically caused by a mutation of the Fragile X mental-retardation 1 (Fmr1) gene. To better understand the role of the Fmr1 gene and its gene product, the fragile X mental-retardation protein in central nervous system...
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PMID: 19141086
PDF is available here.
PDF is available here.
Revue Neurologique (165 Spec No 1) 2009
Abstract
Neuropharmacology (56)2 2009
Abstract
We demonstrate here that a central metabolic regulatory enzyme, glycogen synthase kinase-3 (GSK3) is present in a form indicating elevated activity in several regions of the FX mouse brain. Furthermore, we show that selective GSK3 inhibitors, as well as lithium, are able to revert mutant phenotypes...
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PMID: 18952114
PDF is available here.
PDF is available here.
Genetics in Medicine (11)2 2009
Abstract
We reviewed the literature and identified 16 studies that met conservative inclusion criteria, including molecular measures of the fragile X mental retardation gene CGG triplet repeat length and standard measures of neurobehavioral and neurocognitive phenotypes. A review of these studies is presente...
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PMID: 19265746
PDF is available here.
PDF is available here.
Abstract
We show here a new role for FMRP as a positive modulator of translation. FMRP specifically binds Superoxide Dismutase 1 (Sod1) mRNA with high affinity through a novel RNA motif, SoSLIP (Sod1 mRNA Stem Loops Interacting with FMRP), which is folded as three independent stem-loop structures. FMRP induc...
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PMID: 19166269
PDF is available here.
PDF is available here.
Movement Disorders (24)1 2009
Abstract
Tsitologiia (51)12 2009
Abstract
We used two alternative variants of genetic construction: containing luciferase reporter gene under 5'-regulatory region fragment devoid of GCC-triplet repeats or including the GCC9 nucleotide sequence. HepG2 cells were co-transfected by these constructions and expressions vectors of ZF5 or (and) CG...
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PMID: 20141036
PDF is available here.
PDF is available here.
Abstract
Fragile X syndrome, the most prevalent inherited cause of mental retardation, is related to hyperexpansion of a polymorphic CGG repeat of the FMR1 gene. Expansion of 55-200 repeats are called premutations and characterize carriers who usually have no mental impairment. The disease causing full mutat...
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PMID: 19099346
PDF is available here.
PDF is available here.
Abstract
We examined bloodspots from 100 males, including 24 with FXS, in a blinded manner. The results revealed that the ability of MB-PCR to detect FMR1 promoter methylation was the same as that of Southern blot hybridization. Since individuals with 2 or more X chromosomes generally have methylated FMR1 al...
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PMID: 19893637
PDF is available here.
PDF is available here.
Prenatal Diagnosis (29)1 2009
Abstract
Our results demonstrate that PGD for fragile X is feasible, and that carriers transmit the abnormal allele at the same frequency as the normal allele.
Copyright (c) 2008 John Wiley & Sons, Ltd....
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PMID: 19097038
PDF is available here.
PDF is available here.
Abstract
We examined the hypothesis that FMRP binds its cargo mRNAs in the nucleus. The enhanced green fluorescent protein-tagged FMRP construct (EGFP-FMRP) expressed in Cos-7 cells was efficiently exported from the nucleus in the absence of its nuclear export sequence and in the presence of a strong nuclear...
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PMID: 18936162
PDF is available here.
PDF is available here.
Abstract
Fragile X syndrome (FXS), a single gene disorder with an expanded CGG allele on the X chromosome, is the most common form of inherited cognitive impairment. The cognitive deficit ranges from mild learning disabilities to severe intellectual disability. The phenotype includes hyperact...
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PMID: 20014363
PDF is available here.
PDF is available here.
RNA Biology (6)2 2009
Abstract
We summarize what is known about the role of the fragile X family members in translation regulation, highlighting evidence for their association with the microRNA pathway. In addition, we present a new model for the effect of phosphorylation on FMRP function, where phosphorylation of FMRP inhibits D...
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PMID: 19276651
PDF is available here.
PDF is available here.
Human Biology (80)6 2008
Abstract
We previously analyzed a sample of two Basque valleys. In the present work we extend the study to another five isolated valleys. The results show that differences in factors implicated in CGG repeat instability--CGG repeat size, XS548/FRAXAC1 haplotypes, and AGG interspersion pattern-are present in...
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PMID: 19728537
PDF is available here.
PDF is available here.
Abstract
We analyzed neuropsychological scores for 138 males and 506 females ascertained from the general population and from families with a history of fragile X syndrome. Subjects were age 18-50 years and had varying repeat lengths. Neuropsychological scores were obtained from measures of general intellige...
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PMID: 19026394
PDF is available here.
PDF is available here.
Journal of Genetics (87)3 2008
Abstract
Journal of Neurochemistry (107)6 2008
Abstract
We demonstrate the dendritic localization of HuR and HuD RNA-binding proteins (RBPs) and their association with neuronal mRNAs following these two paradigms of seizure and cocaine treatment. Both the ubiquitously expressed HuR and neuronal HuD RBPs were detected in different regions as well as withi...
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PMID: 19014379
PDF is available here.
PDF is available here.
Journal of Neurochemistry (107)6 2008
Abstract
We have used the expanded CGG-repeat knock-in mouse model of FXTAS to examine the relationship between the molecular and neuropathological parameters in brain. We present Fmr1 mRNA and Fmrp levels and the presence of intranuclear inclusions at different repeat lengths. Contrary to existing hypothese...
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PMID: 19014369
PDF is available here.
PDF is available here.