Molecular phenotype of Fragile X syndrome: FMRP, FXRPs, and protein targets (Q28583305)

Gene Ontology release 2020-05-02

Gene Ontology ID

GO:0120082

rough endoplasmic reticulum cisterna

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Gene Ontology release 2020-05-02

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1 reference

Walter E. Kaufmann

1

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31 January 2017

Sonia Cohen

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2

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31 January 2017

Hong-Tao Sun

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3

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31 January 2017

George Ho

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4

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31 January 2017

language of work or name

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1 May 2002

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31 January 2017

Microscopy Research and Technique

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31 January 2017

57

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31 January 2017

135–144

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31 January 2017

3

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31 January 2017

FMR1 gene expression in olfactory neuroblasts from two males with fragile X syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

Autistic behavior, FMR1 protein, and developmental trajectories in young males with fragile X syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

A distinct FMRP polysomal population at an advanced stage of mammalian erythropoiesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

Regulation of microtubule composition and stability during nerve growth factor-promoted neurite outgrowth

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

A role for p75 neurotrophin receptor in the control of hair follicle morphogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

Isolation of an FMRP-associated messenger ribonucleoprotein particle and identification of nucleolin and the fragile X-related proteins as components of the complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

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/10.1002%2FJEMT.10066

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

Quantitative comparison of FMR1 gene expression in normal and premutation alleles

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

Fragile X syndrome without CCG amplification has an FMR1 deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

Synaptic regulation of protein synthesis and the fragile X protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

Mass spectrometric and Edman sequencing of lipocortin I isolated by two-dimensional SDS/PAGE of human melanoma lysates

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

Two new cases of FMR1 deletion associated with mental impairment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

Review: Central non-glucocorticoid inhibitors of the hypothalamo-pituitary-adrenal axis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

Reliability and validity of MRI measurement of the amygdala and hippocampus in children with fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

Dendritic anomalies in disorders associated with mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

Molecular and cellular genetics of fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

Dendritic cytoskeletal protein expression in mental retardation: an immunohistochemical study of the neocortex in Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

The fragile X mental retardation protein is associated with ribosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

Acetylation: a regulatory modification to rival phosphorylation?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

The fragile X mental retardation protein inhibits translation via interacting with mRNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

Novel anti-inflammatory peptides from the region of highest similarity between uteroglobin and lipocortin I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

Complex behavior of simple repeats: the fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

Glucocorticoids modulate the cellular disposition of lipocortin 1 in the rat brain in vivo and in vitro.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

Contribution of the FMR1 gene mutation to human intellectual dysfunction.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

Structural basis of the Ca(2+)-dependent association between S100C (S100A11) and its target, the N-terminal part of annexin I

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

Premature ovarian failure in the fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

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

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

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

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

Annexin-1 is abnormally expressed in fragile X syndrome: two-dimensional electrophoresis study in lymphocytes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

RNAs that interact with the fragile X syndrome RNA binding protein FMRP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

FMRP is associated to the ribosomes via RNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

Oligomerization properties of fragile-X mental-retardation protein (FMRP) and the fragile-X-related proteins FXR1P and FXR2P

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

Transcription of the FMR1 gene in individuals with fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

Clinical involvement and protein expression in individuals with the FMR1 premutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

Screening for the fragile X syndrome among mentally retarded males by hair root analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

Characterization of FMR1 proteins isolated from different tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

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

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

Alternative splicing in the fragile X gene FMR1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

Nerve growth factor: structure and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

Rapid antibody test for fragile X syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

Association of FMRP with ribosomal precursor particles in the nucleolus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

Noninvasive test for fragile X syndrome, using hair root analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

Cortisol and social stressors in children with fragile X: a pilot study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

Continuous culture of neuronal cells from adult human olfactory epithelium.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

A.E. Bennett Research Award 1993. Olfactory neuroblasts from Alzheimer donors: studies on APP processing and cell regulation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066

Reduced mRNA for G3BP in fragile X cells: evidence of FMR1 gene regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FJEMT.10066