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Alternative splicing-triggered mRNA decay informs splice-switching targets for neurodevelopmental disorders

GSE324908 Homo sapiens (human) RNA-seq (gene expression) 14 samples Submitted 2026/03/16 Platform GPL17021Platform GPL34281
At a glance

RNA-seq (gene expression) · human · 14 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
14 samples: 6 conditions, mostly in duplicateGroups 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
Alternative splicing-triggered mRNA decay informs splice-switching targets for neurodevelopmental disordersThe Journal of clinical investigation · 2026
Summary (written by the submitters)
Alternative splicing-triggered nonsense-mediated mRNA decay (AS-NMD) critically regulates gene expression, but the extent to which neuronal genes are regulated by AS-NMD remains understudied. Here, we identified more than 3,000 developmentally regulated AS-NMD exons in mouse and human brains, and validated them in cultured neurons. AS-NMD suppresses synaptic genes during brain development and differentially regulates more than 200 causal genes for neurodevelopmental disorders (NDDs).
Read the full summary ↓
We detected an AS-NMD exon in GRIA2 and identified splice-switching antisense oligonucleotides that suppressed GRIA2 NMD and increased its functional isoforms. In summary, this study uncovers genes repressed by AS-NMD in the brain and nominates amenable splice-switching targets for treating dominant NDDs such as autism spectrum disorders and developmental epileptic encephalopathy.
Published in
Alternative splicing-triggered mRNA decay informs splice-switching targets for neurodevelopmental disorders
Hu K, Yang R, Qiu J et al. · The Journal of clinical investigation 2026 · PMID 41678398 · doi:10.1172/JCI197271
This dataset
Open GSE324908 in finder → Find more 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 GSE324908_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 PRJNA1079809 and SRA study SRP491445. Searching any of these in the dataset finder brings you back here.

NCBI GEO page ↗ Paper (PMID 41678398) ↗
Study design
6 conditions, mostly in duplicate
hiPSC-derived-neuron_DMSO ×3 hiPSC-derived-neuron_CHX ×3 Neuro2a_(N2a)_control-siRNA ×2 Neuro2a_(N2a)_Upf1-siRNA ×2 Primary neuron DMSO ×2 Primary neuron CHX ×2

Supports a between-group comparison across 14 samples.

How we read this: 6 replicated groups read from 14 sample titles; they account for 14 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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