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The expression of Welander distal myopathy-related TIA1 mutation exacerbates the dynamics of P-bodies and stress granules under oxidative stress

GSE240735 Homo sapiens (human) RNA-seq (gene expression) 30 samples Submitted 2026/01/09 Platform GPL20301
At a glance

RNA-seq (gene expression) · human · 30 samples

What it is
RNA-seq (gene expression)Gene activity measured by sequencing. The summary does not mention single-cell work, so this is most likely bulk: one average per sample, the usual starting point for comparing groups.
Organism
Homo sapiens (human)
Samples
30 samples: 30 samples, each with a distinct title — no replicated groupsGroups are read from the sample names, not from the paper. Check the list below.
Data you can get
A processed table (series matrix) and supplementary files from NCBI; the raw sequencing reads from ENA. Which of these hold counts depends on the study, so check the file list.
Paper
Welander distal myopathy-associated TIA1 mutation exacerbates P-body and stress granule dynamics concomitant with nucleolar stress under oxidative stressGenes & diseases · 2025
Summary (written by the submitters)
T-cell intracellular antigen 1 (TIA1) is an RNA-binding protein that is primarily involved in the post-transcriptional control of the cellular fate of RNAs. Moreover, it is a key component of stress granules (SGs), RNA and protein aggregates that are formed in response to stressful stimuli to reduce cellular activity as a survival mechanism.
Read the full summary ↓
TIA1 p.E384K mutation is the genetic cause of Welander distal myopathy (WDM), a late-onset muscular dystrophy whose pathogenesis has been related to modify SGs dynamics. In this study, we have focused on the differential transcriptomic and proteomic characterization of purified wild-type (WT) and WDM TIA1-dependent SGs by affinity immunopurification followed by mass spectrometry and RNA seq analysis under oxidative stress. The results have revealed small differences in specific components of cellular machineries involving in regulating splicing, RNA degradation and/or translation linked to WDM TIA1 expression under oxidative stress. Our findings suggest a potential regulatory linking among WDM TIA1-dependent SGs and the number, size and colocalization/overlapping with P-bodies under oxidative stress. Taken together, these findings allow us to expand our knowledge on the role of Welander’s TIA1 mutation in interfacing SGs and P-bodies dynamics by involving potential regulatory impacts on cell machineries of RNA decay/turnover and/or translation.
Published in
Welander distal myopathy-associated TIA1 mutation exacerbates P-body and stress granule dynamics concomitant with nucleolar stress under oxidative stress
Ramos Velasco B, Alcalde J, Izquierdo JM · Genes & diseases 2025 · PMID 40735695 · doi:10.1016/j.gendis.2025.101543
This dataset
Open GSE240735 in finder → Find more human RNA-seq datasets →
Download · which file do I need?

Direct links to NCBI and ENA, no account and no request form. Pick by what you want to do: take the small processed table to look, the supplementary files to re-analyse, or the original raw data to start over.

1 · Just have a look

Processed table

The series matrix: one table of values per sample as the submitters processed it. The smallest download, and it opens in Excel or R. Start here to see what the data look like.

Series matrix ↓
2 · Re-analyse it

Supplementary files

The count tables and other files the authors uploaded. Take only the samples you need, or the whole study as GSE240735_RAW.tar (it can run to tens of gigabytes).

All supplementary files ↗ Whole study · RAW.tar ↓
3 · Start from the raw reads

Raw sequencing reads

The original FASTQ files, straight from the sequencer, held at ENA. Large, and you align them yourself, so only choose this if you need to re-process the study from scratch.

Raw reads on ENA ↗

What the files usually look like: For RNA-seq the counts are usually a table among the supplementary files (look for 'counts', 'expression', 'FPKM' or 'TPM' in the file name). The series matrix of a sequencing study is sometimes nearly empty.

Also filed as BioProject PRJNA1005178 and SRA study SRP454880. Searching any of these in the dataset finder brings you back here.

NCBI GEO page ↗ Paper (PMID 40735695) ↗
Study design
30 samples, each with a distinct title — no replicated groups

Any grouping that defines a comparison lives in the sample characteristics, which GEO records separately from the titles.

How we read this: Read from 30 sample titles: 30 distinct titles with little repetition. These groups are guessed from the sample names, not taken from the paper, so check them against the sample list below before relying on them.

Samples in this study
Datasets on a similar topic

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