GEO series

Rescue of spinal cord pathology by peripherally administered AR-targeted ASO in symptomatic AR113Q mice

GSE300077 Mus musculus (mouse) Single-nucleus RNA-seq 11 samples Submitted 2025/08/04 Platform GPL34290

At a glance

Single-nucleus RNA-seq · mouse · 11 samples

What it is: Single-nucleus RNA-seqGene activity measured in individual nuclei (used when whole cells are hard to isolate, for example from frozen tissue). Read from the summary: GEO's own type field only says 'expression profiling by sequencing', so confirm it in the paper.
Organism: Mus musculus (mouse)
Samples: 11 samples: 6 × WT + AR-ASO vs 5 × WT + NT-ASOGroups 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: Peripherally administered androgen receptor-targeted antisense oligonucleotide rescues spinal pathology in a murine SBMA modelThe Journal of clinical investigation · 2025

Summary (written by the submitters)

Degeneration of the neuromuscular system is a characteristic feature of spinal and bulbar muscular atrophy (SBMA), a CAG/polyglutamine (polyQ) expansion disorder caused by mutation in the androgen receptor (AR). Using a gene targeted mouse model of SBMA, AR113Q mice, we demonstrate age-dependent degeneration of the neuromuscular system that initially manifests with muscle weakness and atrophy and progresses to include denervation of neuromuscular junctions and lower motor neuron soma atrophy.

Read the full summary ↓

Using this model, we tested the hypothesis that therapeutic intervention targeting skeletal muscle during this period of disease progression arrests degeneration of the neuromuscular system. To accomplish this, AR-targeted antisense oligonucleotides were administered subcutaneously to symptomatic AR113Q mice to reduce expression of polyQ AR in peripheral tissues but not in the spinal cord. This intervention rescued muscle atrophy, neuromuscular junction innervation, lower motor neuron soma size, and survival in aged AR113Q mice. Single-nucleus RNA sequencing revealed age-dependent transcriptional changes in the AR113Q spinal cord during disease progression which were mitigated by peripheral AR gene silencing. Our findings underscore the intricate interplay between peripheral tissues and the central nervous system in SBMA and emphasize the therapeutic effectiveness of peripheral gene knockdown in symptomatic disease.

Published in

Peripherally administered androgen receptor-targeted antisense oligonucleotide rescues spinal pathology in a murine SBMA model

Lee C, Yu Z, Kuo CJ et al. · The Journal of clinical investigation 2025 · PMID 40875460 · doi:10.1172/JCI182955

This dataset

Open GSE300077 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 GSE300077_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: Single-cell studies usually ship their counts as 10x files (matrix.mtx, barcodes.tsv, features.tsv), an .h5 file, or an .rds / .h5ad object that Seurat or Scanpy can open. Look for those among the supplementary files.

Also filed as BioProject PRJNA1278787 and SRA study SRP592679. Searching any of these in the dataset finder brings you back here.

NCBI GEO page ↗ Paper (PMID 40875460) ↗

Study design

6 × WT + AR-ASO vs 5 × WT + NT-ASO

Supports a between-group comparison across 11 samples.

How we read this: 2 replicated groups read from 11 sample titles; they account for 11 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

GSM9053388 WT + AR-ASO1 WT + AR-ASO
GSM9053389 WT + NT-ASO1 WT + NT-ASO
GSM9053390 WT + AR-ASO2 WT + AR-ASO
GSM9053391 WT + NT-ASO2 WT + NT-ASO
GSM9053392 WT + AR-ASO3 WT + AR-ASO
GSM9053393 WT + NT-ASO3 WT + NT-ASO
GSM9053394 WT + AR-ASO4 WT + AR-ASO
GSM9053395 WT + NT-ASO4 WT + NT-ASO
GSM9053396 WT + AR-ASO5 WT + AR-ASO
GSM9053397 WT + NT-ASO5 WT + NT-ASO
GSM9053398 WT + AR-ASO6 WT + AR-ASO

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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.