← BioTransfer GEO Dataset Finder
GEO series

AAV9-mediated TNPO3 overexpression in the heart rescues RBM20 cardiomyopathy in mice

GSE284034 Mus musculus (mouse) RNA-seq (gene expression) 16 samples Submitted 2025/09/10 Platform GPL30172
At a glance

RNA-seq (gene expression) · mouse · 16 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
Mus musculus (mouse)
Samples
16 samples: 4 × WT mice injected with Ctr virus, vs 4 × WT mice injected with Tnpo3 virus, vs 4 × P635L mice injected with Ctr virus, vs 4 × P635L mice injected with Tnpo3 virus,Groups 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
AAV9-Mediated TNPO3 Overexpression in the Heart Rescues RBM20 Cardiomyopathy in MiceCirculation · 2025
Summary (written by the submitters)
The RBM20 gene encodes for an alternative splicing regulator which, when mutated, can cause an aggressive form of DCM. The majority of RBM20 mutations identified in patients are found in the RS-domain, and lead to cytoplasmic mislocalization of the protein. In our previous work (Kornienko et al., Nat Commun, 2023), we identified TNPO3 as a direct nuclear importer of RBM20, and showed that restoring nuclear localization of mislocalizing variants rescues splicing dysfunction in iPSC-CMs.
Read the full summary ↓
Here, we used our two recently published mouse models with patient-relevant RBM20 variants (Grosch et al., Nat Commun, 2023) to test whether nuclear relocalization could restore the alternative splicing and cardiac dysfunction in vivo. We used AAV9 vectors to overexpress TNPO3 in murine hearts and thereby facilitate nuclear import of RBM20 variants. We show that TNPO3 overexpression could rescue ejection fraction, cardiac volume, and alternative splicing, without having any detectable adverse effects on wild type animals. These results provide the first in vivo evidence that restoring RBM20 localization can significantly improve cardiac function and correct for splicing errors.
Published in
AAV9-Mediated TNPO3 Overexpression in the Heart Rescues RBM20 Cardiomyopathy in Mice
Kornienko J, Schraft L, Fenzl K et al. · Circulation 2025 · PMID 40920839 · doi:10.1161/CIRCULATIONAHA.124.072766
This dataset
Open GSE284034 in finder → Find more mouse 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 GSE284034_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 PRJNA1196874 and SRA study SRP550770. Searching any of these in the dataset finder brings you back here.

NCBI GEO page ↗ Paper (PMID 40920839) ↗
Study design
4 × WT mice injected with Ctr virus, vs 4 × WT mice injected with Tnpo3 virus, vs 4 × P635L mice injected with Ctr virus, vs 4 × P635L mice injected with Tnpo3 virus,

Supports a between-group comparison across 16 samples.

How we read this: 4 replicated groups read from 16 sample titles; they account for 16 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
Datasets on a similar topic

Search all mouse RNA-seq datasets in GEO →

Share this dataset

Metadata from NCBI GEO, cached and refreshed periodically — the NCBI page above is authoritative. Downloads link straight to NCBI/ENA; nothing is proxied through BioTransfer.