Varaico: Literature-Extracted Genetic Variants

Gene:FMR1
Variant:p.S500A
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FMR1

NM_002024.6:p.S500A

Associated Papers

CRISPR activation of the ribosome-associated quality control factor ASCC3 ameliorates fragile X syndrome phenotypes in mice.

Geng J et al.

Science Translational Medicine, 2025

Function of FMRP Domains in Regulating Distinct Roles of Neuronal Protein Synthesis.

D'Souza MN et al.

Molecular Neurobiology, 2022

Intercepting IRE1 kinase-FMRP signaling prevents atherosclerosis progression.

Yildirim Z et al.

Embo Molecular Medicine, 2022

Post-translational modifications of the Fragile X Mental Retardation Protein in neuronal function and dysfunction.

Prieto M et al.

Molecular Psychiatry, 2020

Splice form-dependent regulation of axonal arbor complexity by FMRP.

Zimmer SE et al.

Developmental Neurobiology, 2017

Regulation of fragile X mental retardation 1 protein by C-terminus of Hsc70-interacting protein depends on its phosphorylation status.

Choi YN et al.

Biochemical and Biophysical Research Communications, 2014

FMRP regulates actin filament organization via the armadillo protein p0071.

Nolze A et al.

Rna (new York, N.y.), 2013

In vivo neuronal function of the fragile X mental retardation protein is regulated by phosphorylation.

Coffee RL et al.

Human Molecular Genetics, 2012

Fragile X mental retardation protein induces synapse loss through acute postsynaptic translational regulation.

Pfeiffer BE et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2007

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

Mazroui R et al.

Human Molecular Genetics, 2003

[The diagnosis of mental retardation in fragile X syndrome is revolutionized by molecular genetics].

Lemire M et al.

L'union Medicale Du Canada, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."