Biology of the fragile X mental retardation protein, an RNA-binding protein (Q33765369)

29 July 2017

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title

Biology of the fragile X mental retardation protein, an RNA-binding protein (English)

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29 July 2017

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Khandjian EW

1

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29 July 2017

1 January 1999

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Biochemistry and Cell Biology

29 July 2017

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29 July 2017

77

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29 July 2017

4

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29 July 2017

331-342

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Nucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain.

29 July 2017

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Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG-repeat.

21 January 2018

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Enhanced expression of the murine FMR1 gene during germ cell proliferation suggests a special function in both the male and the female gonad

21 January 2018

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Analysis of domains affecting intracellular localization of the FMRP protein.

21 January 2018

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Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndrome

21 January 2018

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The fragile-X-related gene FXR1 is a human autoantigen processed during apoptosis

21 January 2018

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Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

21 January 2018

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In vitro reactivation of the FMR1 gene involved in fragile X syndrome

21 January 2018

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Abnormal dendritic spines in fragile X knockout mice: maturation and pruning deficits

21 January 2018

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The fragile X mental retardation protein is associated with poly(A)+ mRNA in actively translating polyribosomes

21 January 2018

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Highly conserved 3' UTR and expression pattern of FXR1 points to a divergent gene regulation of FXR1 and FMR1

21 January 2018

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A point mutation in the FMR-1 gene associated with fragile X mental retardation

21 January 2018

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Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family

21 January 2018

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The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation

21 January 2018

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hnRNP proteins and the biogenesis of mRNA

21 January 2018

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Structural and functional characterization of the human FMR1 promoter reveals similarities with the hnRNP-A2 promoter region.

21 January 2018

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Fine structure of the human FMR1 gene

21 January 2018

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Length of uninterrupted CGG repeats determines instability in the FMR1 gene

21 January 2018

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Evolution of the cryptic FMR1 CGG repeat

21 January 2018

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FMRP associates with polyribosomes as an mRNP, and the I304N mutation of severe fragile X syndrome abolishes this association

21 January 2018

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The HIV-1 Rev activation domain is a nuclear export signal that accesses an export pathway used by specific cellular RNAs

21 January 2018

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CRM1 is an export receptor for leucine-rich nuclear export signals

21 January 2018

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Amphibian transcription factor IIIA proteins contain a sequence element functionally equivalent to the nuclear export signal of human immunodeficiency virus type 1 Rev

21 January 2018

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Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

21 January 2018

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High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression

21 January 2018

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Methylation analysis of CGG sites in the CpG island of the human FMR1 gene

21 January 2018

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Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation

21 January 2018

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Tissue-specific expression of a FMR1/beta-galactosidase fusion gene in transgenic mice.

21 January 2018

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Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome.

21 January 2018

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Analysis of neocortex in three males with the fragile X syndrome

21 January 2018

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The perinucleolar compartment and transcription

21 January 2018

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Intracellular distribution of the U1A protein depends on active transport and nuclear binding to U1 snRNA.

21 January 2018

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The fragile X mental retardation protein is associated with ribosomes

21 January 2018

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Novel isoforms of the fragile X related protein FXR1P are expressed during myogenesis

21 January 2018

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Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice.

21 January 2018

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Animal model for fragile X syndrome

21 January 2018

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Trinucleotide repeats in neurogenetic disorders

21 January 2018

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Absence of expression of the FMR-1 gene in fragile X syndrome

21 January 2018

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Shuttling of pre-mRNA binding proteins between nucleus and cytoplasm

21 January 2018

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The chicken FMR1 gene is highly conserved with a CCT 5'-untranslated repeat and encodes an RNA-binding protein.

21 January 2018

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The complex pathology of trinucleotide repeats

21 January 2018

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The fragile X syndrome: implications of molecular genetics for the clinical syndrome

21 January 2018

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Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation

21 January 2018

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No mental retardation in a man with 40% abnormal methylation at the FMR-1 locus and transmission of sperm cell mutations as premutations.

21 January 2018

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Adult fragile X syndrome. Clinico-neuropathologic findings.

21 January 2018

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Characterization of FMR1 promoter elements by in vivo-footprinting analysis.

21 January 2018

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Further segregation analysis of the fragile X syndrome with special reference to transmitting males

21 January 2018

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A nuclear localization domain in the hnRNP A1 protein

21 January 2018

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The pre-mRNA binding K protein contains a novel evolutionarily conserved motif

21 January 2018

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The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein

21 January 2018

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Essential role for KH domains in RNA binding: impaired RNA binding by a mutation in the KH domain of FMR1 that causes fragile X syndrome

21 January 2018

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Specific sequences in the fragile X syndrome protein FMR1 and the FXR proteins mediate their binding to 60S ribosomal subunits and the interactions among them

21 January 2018

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Alternative splicing of exon 14 determines nuclear or cytoplasmic localisation of fmr1 protein isoforms

21 January 2018

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Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures

21 January 2018

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Normal phenotype in two brothers with a full FMR1 mutation.

21 January 2018

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Pattern-induced multi-sequence alignment (PUMA) algorithm employing secondary structure-dependent gap penalties for use in comparative protein modelling

21 January 2018

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DNA methylation represses FMR-1 transcription in fragile X syndrome

21 January 2018

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FMRP is associated to the ribosomes via RNA.

21 January 2018

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Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis

21 January 2018

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Different targets for the fragile X-related proteins revealed by their distinct nuclear localizations

21 January 2018

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Characterization and localization of the FMR-1 gene product associated with fragile X syndrome

21 January 2018

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Characterization of FMR1 proteins isolated from different tissues

21 January 2018

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Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

21 January 2018

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Alternative splicing in the fragile X gene FMR1.

21 January 2018

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FMR1 fully expanded mutation with minimal methylation in a high functioning fragile X male

21 January 2018

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Triplet repeat expansion mutations: the example of fragile X syndrome

21 January 2018

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Synaptic synthesis of the Fragile X protein: possible involvement in synapse maturation and elimination.

21 January 2018

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Fragile X mental retardation protein is translated near synapses in response to neurotransmitter activation

21 January 2018

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Identification of a signal for rapid export of proteins from the nucleus

21 January 2018

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Association of FMRP with ribosomal precursor particles in the nucleolus

21 January 2018

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Leptomycin B is an inhibitor of nuclear export: inhibition of nucleo-cytoplasmic translocation of the human immunodeficiency virus type 1 (HIV-1) Rev protein and Rev-dependent mRNA

21 January 2018

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A heterogeneous set of FMR1 proteins is widely distributed in mouse tissues and is modulated in cell culture

21 January 2018

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21 January 2018

Identifiers

DOI

10.1139/O99-035

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29 July 2017

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PubMed ID

10546896