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DUX4.6 siRNA in vitro activity in FSHD patient-derived myotubes

GSE291267 Homo sapiens (human) RNA-seq (gene expression) 32 samples Submitted 2026/03/08 Platform GPL24676
At a glance

RNA-seq (gene expression) · human · 32 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
32 samples: 8 conditions, mostly with about 4 replicates eachGroups 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
Development of a DUX4-targeting antibody oligonucleotide conjugate as a therapy for FSHDNucleic acids research · 2026
Summary (written by the submitters)
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant muscular disease caused by the aberrant ectopic expression of DUX4 in skeletal muscle. There are no approved therapies for FSHD to date, and strategies aimed at reducing DUX4 expression in skeletal muscle of FSHD patients are promising therapeutic approaches. Here we demonstrate DUX4.6 siRNA activity in reducing DUX4-regulated gene expression in FSHD patient-derived myotubes in vitro.
Published in
Development of a DUX4-targeting antibody oligonucleotide conjugate as a therapy for FSHD
Malecova B, Sala D, Melikian GM et al. · Nucleic acids research 2026 · PMID 41994867 · doi:10.1093/nar/gkag301
This dataset
Open GSE291267 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 GSE291267_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 PRJNA1232689 and SRA study SRP568548. Searching any of these in the dataset finder brings you back here.

NCBI GEO page ↗ Paper (PMID 41994867) ↗
Study design
8 conditions, mostly with about 4 replicates each
FSHD patient-derived primary myotubes (MB02),… ×4 FSHD patient-derived primary myotubes (MB02),… ×4 FSHD patient-derived primary myotubes (MB05),… ×4 FSHD patient-derived primary myotubes (MB05),… ×4 FSHD patient-derived primary myotubes (MB06),… ×4 FSHD patient-derived primary myotubes (MB06),… ×4 Control subject-derived primary myotubes (MB0… ×4 Control subject-derived primary myotubes (MB0… ×4

Supports a case/control comparison: 12 samples read as cases, 8 as controls.

How we read this: 8 replicated groups read from 32 sample titles; they account for 32 of them. 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
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