A mouse model of the human Fragile X syndrome I304N mutation (Q30484632)

20 August 2017

A mouse model of the human Fragile X syndrome I304N mutation (English)

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20 August 2017

1 reference

Julie B Zang

1

1 reference

20 August 2017

Elena D Nosyreva

2

1 reference

20 August 2017

Corinne M Spencer

3

1 reference

20 August 2017

Lenora J Volk

4

1 reference

20 August 2017

Kiran Musunuru

5

1 reference

20 August 2017

Ru Zhong

6

1 reference

20 August 2017

Elizabeth F Stone

7

1 reference

20 August 2017

Lisa A Yuva-Paylor

8

1 reference

20 August 2017

Kimberly M Huber

9

1 reference

20 August 2017

Richard Paylor

10

1 reference

20 August 2017

Jennifer C Darnell

11

1 reference

20 August 2017

Robert B Darnell

12

1 reference

20 August 2017

11 December 2009

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20 August 2017

1 reference

20 August 2017

5

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20 August 2017

e1000758

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20 August 2017

12

1 reference

Creative Commons Attribution 4.0 International

20 August 2017

start time

11 December 2009

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Elongation factor 2 and fragile X mental retardation protein control the dynamic translation of Arc/Arg3.1 essential for mGluR-LTD

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Social behavior in Fmr1 knockout mice carrying a human FMR1 transgene

20 June 2018

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A novel RNA transcript with antiapoptotic function is silenced in fragile X syndrome

20 June 2018

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Correction of fragile X syndrome in mice.

20 June 2018

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Switching from repression to activation: microRNAs can up-regulate translation

20 June 2018

1 reference

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An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals

20 June 2018

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A neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice

20 June 2018

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A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability

20 June 2018

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AU-rich-element-mediated upregulation of translation by FXR1 and Argonaute 2.

20 June 2018

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The fragile X mental retardation protein-RNP granules show an mGluR-dependent localization in the post-synaptic spines

20 June 2018

1 reference

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Substitution of critical isoleucines in the KH domains of Drosophila fragile X protein results in partial loss-of-function phenotypes.

20 June 2018

1 reference

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Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

20 June 2018

1 reference

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High frequency of neurexin 1beta signal peptide structural variants in patients with autism

20 June 2018

1 reference

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Fmr1 knockout mice are impaired in a leverpress escape/avoidance task

20 June 2018

1 reference

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Dynamic translational and proteasomal regulation of fragile X mental retardation protein controls mGluR-dependent long-term depression

20 June 2018

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The fragile X syndrome: exploring its molecular basis and seeking a treatment.

20 June 2018

1 reference

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The structure of the N-terminal domain of the fragile X mental retardation protein: a platform for protein-protein interaction

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779495

Altered anxiety-related and social behaviors in the Fmr1 knockout mouse model of fragile X syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779495

Localization of FMRP-associated mRNA granules and requirement of microtubules for activity-dependent trafficking in hippocampal neurons

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779495

FMRP RNA targets: identification and validation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779495

Deficits in trace fear memory and long-term potentiation in a mouse model for fragile X syndrome.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779495

Deletion of FMR1 in Purkinje cells enhances parallel fiber LTD, enlarges spines, and attenuates cerebellar eyelid conditioning in Fragile X syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779495

Kissing complex RNAs mediate interaction between the Fragile-X mental retardation protein KH2 domain and brain polyribosomes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779495

Visual experience regulates transient expression and dendritic localization of fragile X mental retardation protein

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779495

Biochemical evidence for the association of fragile X mental retardation protein with brain polyribosomal ribonucleoparticles

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779495

Fragile X mental retardation protein is associated with translating polyribosomes in neuronal cells.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779495

Sensorimotor gating abnormalities in young males with fragile X syndrome and Fmr1-knockout mice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779495

Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathway

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779495

CLIP identifies Nova-regulated RNA networks in the brain

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779495

Fragile X Mental Retardation protein determinants required for its association with polyribosomal mRNPs

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779495

A micrococcal nuclease homologue in RNAi effector complexes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779495

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

20 June 2018

1 reference

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Of mice and the fragile X syndrome.

20 June 2018

1 reference

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The role of a clinically important mutation in the fold and RNA-binding properties of KH motifs

20 June 2018

1 reference

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Transport of fragile X mental retardation protein via granules in neurites of PC12 cells

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779495

A Drosophila fragile X protein interacts with components of RNAi and ribosomal proteins

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779495

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779495

Genetic basis of Rett syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779495

A decade of molecular studies of fragile X syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779495

Altered synaptic plasticity in a mouse model of fragile X mental retardation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779495

Comparative genomic sequence analysis of the FXR gene family: FMR1, FXR1, and FXR2

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779495

Fragile X mental retardation protein targets G quartet mRNAs important for neuronal function

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779495

Microarray identification of FMRP-associated brain mRNAs and altered mRNA translational profiles in fragile X syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779495

Structural basis for recognition of the intron branch site RNA by splicing factor 1

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779495

The fragile X mental retardation protein binds specifically to its mRNA via a purine quartet motif

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779495

Abnormal development of dendritic spines in FMR1 knock-out mice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779495

Evidence that fragile X mental retardation protein is a negative regulator of translation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779495

Sequence-specific RNA binding by a Nova KH domain: implications for paraneoplastic disease and the fragile X syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779495

Targeting genes for self-excision in the germ line

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779495

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779495

Purified recombinant Fmrp exhibits selective RNA binding as an intrinsic property of the fragile X mental retardation protein

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779495

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779495

Fragile X mental retardation protein: nucleocytoplasmic shuttling and association with somatodendritic ribosomes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779495

A nuclear role for the Fragile X mental retardation protein

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779495

Three-dimensional structure and stability of the KH domain: molecular insights into the fragile X syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779495

The fragile X mental retardation protein is associated with ribosomes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779495

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779495

Nova, the paraneoplastic Ri antigen, is homologous to an RNA-binding protein and is specifically expressed in the developing motor system

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779495

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779495

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779495

The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779495

X-linked mental retardation, macro-orchidism, and the Xq27 fragile site

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779495

Adult fragile X syndrome. Clinico-neuropathologic findings.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779495

Analysis of neocortex in three males with the fragile X syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779495

Reduced cortical synaptic plasticity and GluR1 expression associated with fragile X mental retardation protein deficiency.

20 June 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000758

Age-dependent and selective impairment of long-term potentiation in the anterior piriform cortex of mice lacking the fragile X mental retardation protein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000758

Increased threshold for spike-timing-dependent plasticity is caused by unreliable calcium signaling in mice lacking fragile X gene FMR1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000758

Multiple Gq-coupled receptors converge on a common protein synthesis-dependent long-term depression that is affected in fragile X syndrome mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000758

Brain-derived neurotrophic factor rescues synaptic plasticity in a mouse model of fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000758

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000758

The N-terminus of the fragile X mental retardation protein contains a novel domain involved in dimerization and RNA binding.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000758

Mutational analysis establishes a critical role for the N terminus of fragile X mental retardation protein FMRP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000758

(Over)correction of FMR1 deficiency with YAC transgenics: behavioral and physical features

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000758

Fmr1 KO mice as a possible model of autistic features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000758

The use of behavioral test batteries: effects of training history.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000758

Metabotropic receptor-dependent long-term depression persists in the absence of protein synthesis in the mouse model of fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000758

Exaggerated behavioral phenotypes in Fmr1/Fxr2 double knockout mice reveal a functional genetic interaction between Fragile X-related proteins.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000758

Knockout mouse model for Fxr2: a model for mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000758

Fragile X mice develop sensory hyperreactivity to auditory stimuli

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000758

Homer interactions are necessary for metabotropic glutamate receptor-induced long-term depression and translational activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000758

Acute stress facilitates hippocampal CA1 metabotropic glutamate receptor-dependent long-term depression.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000758

New insights into Fragile X syndrome. Relating genotype to phenotype at the molecular level.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000758

The generation of a conditional Fmr1 knock out mouse model to study Fmrp function in vivo.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000758

Phosphorylation influences the translation state of FMRP-associated polyribosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000758

Suppression of two major Fragile X Syndrome mouse model phenotypes by the mGluR5 antagonist MPEP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000758

Role for Rapid Dendritic Protein Synthesis in Hippocampal mGluR-Dependent Long-Term Depression

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20011099

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Fmr1 knockout mice: a model to study fragile X mental retardation. The Dutch-Belgian Fragile X Consortium

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20011099

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The fragile X mental retardation protein is a ribonucleoprotein containing both nuclear localization and nuclear export signals

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20011099

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PGEN.1000758

1 reference

20 August 2017

1 reference

20 August 2017

1 reference