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TranscriptomicsGenome-wide analysis identifies aberrant methylation in Fragile X syndrome is specific to the FMR1 locus
Fragile X syndrome (FXS) is a common form of inherited intellectual disability and is caused by an expansion of CGG repeats located in the 5Õ untranslated region (UTR) of the FMR1 gene, leading to hypermethylation and silencing of this locus. While the dramatic increase in DNA methylation (DNAm) of ...
ORGANISM(S): Homo sapiens 
2013-04-15 | E-GEOD-41273 | biostudies-arrayexpress
MetabolomicsAkkermansia muciniphila alleviates endoplasmic reticulum stress via activation of farnesoid X receptors in colitis

Endoplasmic reticulum (ER) stress-related mucin depletion could be involved in the pathogenesis of inflammatory bowel disease (IBD). Akkermansia muciniphila (A. muciniphila) uses mucin as its sole energy source and shows potential in the treatment of colitis. However, the effects and underlying m...

2025-10-09 | MTBLS13104 | MetaboLights
ProteomicsA mouse model of Fragile X Syndrome analyzed by quantitative proteomics: a comparison of methods
We have compared the performance of seven different strategies in the analysis of a mouse model of Fragile X Syndrome, involving the knockout of the fmr1 gene that is the leading cause of autism spectrum disorder. Focusing on the cerebellum, we show that Data-Independent Acquisition (DIA) and the TM...
ORGANISM(S): Mus musculus (Mouse) 
2023-08-21 | PXD039885 | Pride
Quantitative proteomics Boxcar Complementary ion quantification Dia Method comparison Label-free Tmt labeling Mouse brain proteomics Fragile x syndrome 
TranscriptomicsBulk short- and long-read RNA-sequencing of iNeurons in Fragile-X and control cell-lines
This study benchmarks bulk and single-cell long-read RNA sequencing technologies in a human neuronal model of Fragile X syndrome. NGN2-induced neurons were generated from patient-derived iPSCs carrying a silenced FMR1 gene (FXS line E3) and an isogenic CRISPR-corrected rescue line (IsoB11) in which ...
ORGANISM(S): Homo sapiens 
2026-03-25 | E-MTAB-16791 | biostudies-arrayexpress
TranscriptomicsThe 3’UTR of FMR1 mRNA is a target of miR101, miR129-5p and miR-221: implications for the molecular pathology of FXTAS at the synapse.
While FMR1 is silenced in Fragile X syndrome (FXS), its expression is elevated (2-8 fold) in premutated individuals. These people may develop the Fragile X-associated Tremor Ataxia Syndrome (FXTAS), a late onset neurodegenerative disorder characterized by ataxia and parkinsonism. In addition, people...
ORGANISM(S): Mus musculus 
2013-03-07 | E-GEOD-43670 | biostudies-arrayexpress
ProteomicsUnbalanced protein expression contributes to pathology in Fragile X Syndrome
Dysregulated protein synthesis is a core pathogenic mechanism in Fragile X Syndrome (FX). The mGluR Theory of FX predicts that pathological synaptic changes arise from the excessive translation of mRNAs downstream of mGlu1/5 activation. Here, we use a combination of CA1 pyramidal neuron-specific Tra...
ORGANISM(S): Mus musculus (Mouse) 
2022-06-16 | PXD031932 | Pride
Synapse Brain Hippocampus Swath Fmr1 Mglur5 Ribosome Mouse Proteasome Fragile x 
TranscriptomicsGene Expression Analysis of Fmr1-KO Mouse Caudate Putamen as a Model of Fragile X-Syndrome Compared to Wild-Type Mouse
A gene sequencing analysis of caudate putamen tissue of Fmr1-KO mice in comparison to wild-type mice was performed to identify new pre-clinical tissue biomarkers that might be relevant in Fragile X-Syndrome.
ORGANISM(S): Mus musculus 
2026-09-25 | E-MTAB-17716 | biostudies-arrayexpress
ProteomicsCRISPR activation of the ribosome-associated quality control factor ASCC3 ameliorates fragile X syndrome phenotypes in mice
Loss of fragile X messenger ribonucleoprotein (FMRP) causes fragile X syndrome (FXS), an inherited neurodevelopmental disorder resulting in intellectual disability and autism-spectrum disorder. Despite the prevalence of the FXS, the molecular function of FMRP remains uncertain. Here, we showed that...
ORGANISM(S): Homo sapiens (Human) 
2026-04-20 | PXD067852 | Pride
Hek293t 
UnknownReduced serum levels of pro-inflammatory chemokines in fragile X syndrome.
Not available
S-EPMC7161166 | biostudies-literature
TranscriptomicsMolecular Mechanisms Regulating the Defects in Fragile X Syndrome Neurons Derived from Human Pluripotent Stem Cells
Fragile X syndrome (FXS) is caused by the absence of the fragile X mental retardation protein (FMRP). We have previously generated FXS-induced pluripotent stem cells (iPSCs) from patients' fibroblasts. In this study, we aimed at unraveling the molecular phenotype of the disease. Our data revealed ab...
ORGANISM(S): Homo sapiens 
2014-10-28 | E-GEOD-62721 | biostudies-arrayexpress
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