GEO series

Establishing Sensory Neurons as Therapeutic Targets in Peripheral Neuropathy Driven by Polyglutamine Expanded ATXN3

GSE320015 Mus musculus (mouse) RNA-seq (gene expression) 12 samples Submitted 2026/05/11 Platform GPL34328

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: 4 × KI, F, vs 3 × WT, M, vs 3 × WT, F, vs 2 × KI, M,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 Repeat expansion mutations underlie diverse neurogenetic disorders, many involving the peripheral nervous system. Despite peripheral neuropathy being the most common neurological disorder worldwide, its contribution to repeat expansion diseases remains poorly defined, and robust preclinical models are limited. We established a translational framework to study peripheral neuropathy in Spinocerebellar ataxia type 3 (SCA3), a fatal multisystem disorder caused by a pathogenic CAG expansion in ATXN3.

Read the full summary ↓

Methods SCA3 Knock-In Atxn3Q300/Q6 (KI) and Atxn3-/- Knock-Out (KO) mice underwent sensorimotor nerve conduction and behavioral testing. Peripheral tissues were evaluated for SCA3-related pathology, and transcriptional changes in KI dorsal root ganglia (DRG) were assessed by bulk RNA sequencing. To test therapeutic relevance, we generated a conditional “OFF” SCA3 knock-in (cKI) mouse and crossed it with Avil-Cre to selectively silence mutant ATXN3 in sensory neurons. Peripheral phenotyping was repeated in Avil-Cre; cKI mice. Results KI mice developed progressive sensorimotor deficits, peripheral histopathology, and RNA splicing dysregulation that parallel clinical features of SCA3. In contrast, KO mice showed normal peripheral nerve function, implicating toxic gain-of-function from mutant ATXN3 as the causative driver. Sensory neuron–specific silencing of mutant ATXN3 significantly ameliorated peripheral nerve abnormalities. Interpretation These findings define a pathogenic role for repeat expansion–driven peripheral nerve degeneration in SCA3, identify sensory neurons as key therapeutic targets, and provide a preclinical platform for developing peripheral interventions in SCA3 and related repeat expansion disorders.

This dataset

Open GSE320015 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 GSE320015_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 PRJNA1425979 and SRA study SRP678259. Searching any of these in the dataset finder brings you back here.

NCBI GEO page ↗

Study design

4 × KI, F, vs 3 × WT, M, vs 3 × WT, F, vs 2 × KI, M,

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

GSM9531771 WT, M, Rep 1 WT, M,
GSM9531772 WT, M, Rep 2 WT, M,
GSM9531773 WT, M, Rep 3 WT, M,
GSM9531774 WT, F, Rep 1 WT, F,
GSM9531775 WT, F, Rep 2 WT, F,
GSM9531776 WT, F, Rep 3 WT, F,
GSM9531777 KI, M, Rep 1 KI, M,
GSM9531778 KI, M, Rep 2 KI, M,
GSM9531779 KI, F, Rep 1 KI, F,
GSM9531780 KI, F, Rep 2 KI, F,
GSM9531781 KI, F, Rep 3 KI, F,
GSM9531782 KI, F, Rep 4 KI, F,

Datasets on a similar topic

GSE329323 Establishing Sensory Neurons as Therapeutic Targets in Peripheral Neuropathy Driven by Polyglutamine Expanded ATXN3 [Advil RNA-seq] 18 samples shares atxn3, polyglutamine, establishing, therapeutic, peripheral, neuropathy, expanded, sensory
GSE333360 Distinct neuroinflammatory effects of individual chemotherapeutics shape chemotherapy-induced peripheral neuropathy in a novel mouse model of CVAD combination regimen. 30 samples shares therapeutic, peripheral, neuropathy
GSE307773 Oncogenic MAPK signalling induces epithelial cell state change and therapeutic resistance in vivo [RNA-Seq] 175 samples shares therapeutic
GSE223323 Enterocyte like differentiation defines metabolic gene signatures of CMS3 colorectal cancers and provides therapeutic vulnerability 148 samples shares therapeutic
GSE234245 Multiomic Profile Integration Reveals Early Signatures of Amyotrophic Lateral Sclerosis and Suggests the MAPK Pathway as a Therapeutic Target [RNA-Seq] 79 samples shares therapeutic
GSE280699 The mitochondrial-targeted peptide therapeutic elamipretide improves cardiac and skeletal muscle function during aging without detectable changes in tissue epigenetic or transcriptomic age [RNA-seq] 78 samples shares therapeutic
GSE298799 Deconstructing the Intercellular Interactome in Vascular Dementia with Focal Ischemia for Therapeutic Applications 77 samples shares therapeutic
GSE325852 Translatome profiling reveals opposing alterations in inhibitory and excitatory neurons of Fragile X mice and identifies EPAC2 as a therapeutic target 69 samples shares therapeutic

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.