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Cardiovascular exercise drives neuroprotection in Spinocerebellar Ataxia 1 via rescue of abherrant splicing

GSE324036 Mus musculus (mouse) RNA-seq (gene expression) 12 samples Submitted 2026/06/18 Platform GPL30172
At a glance

RNA-seq (gene expression) · mouse · 12 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
12 samples: 3 × Cerebellum, Sedentary SCA, vs 3 × Cerebellum, Exercise SCA, vs 3 × Cerebellum, Sedentary Wt, vs 3 × Cerebellum, Exercise Wt,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.
Summary (written by the submitters)
Objective: Spinocerebellar Ataxia 1 (SCA1) is a fatal hereditary neurodegenerative disorder with no approved therapies, and gene-targeting strategies have thus far failed in clinical trials. Exercise remains the only intervention shown to provide clinical benefit in patients with spinocerebellar ataxias, yet the underlying mechanisms remain poorly understood.
Read the full summary ↓
Results: Unrestricted exercise rescued motor ataxia in SCA1 mice but not degeneration in this model at the ages in this study. Transcriptional profiling of cerebellar tissue did separate WT sedentary and exercise mice by differential gene expression, but in SCA1 mice the most pronounced changes occurred at the level of RNA splicing, particularly in ion channel modules. Exercise led to a significant rescue of splicing events in SCA1 mice, with minimal impact on gene expression changes. Further, both exercised SCA1 and wild-type mice exhibited splicing patterns more similar to each other than their sedentary counterparts. Interpretation: Together with emerging evidence in other SCAs, our findings confirm aberrant splicing as a central driver of spinocerebellar ataxia (SCA) pathophysiology and identify splicing-regulated networks as actionable therapeutic targets. The observed benefits in SCA1 mice suggest that pharmacologic activation of ion channels may be a viable strategy to mimic exercise for disease modification across SCAs and related neurodegenerative disorders.
This dataset
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.

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 GSE324036_RAW.tar (it can run to tens of gigabytes).

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.

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 PRJNA1433255 and SRA study SRP681587. Searching any of these in the dataset finder brings you back here.

Study design
3 × Cerebellum, Sedentary SCA, vs 3 × Cerebellum, Exercise SCA, vs 3 × Cerebellum, Sedentary Wt, vs 3 × Cerebellum, Exercise Wt,

Supports a between-group comparison across 12 samples.

How we read this: 4 replicated groups read from 12 sample titles; they account for 12 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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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.