ArticleCell reports2025
A single-cell, long-read, isoform-resolved case-control study of FTD reveals cell-type-specific and broad splicing dysregulation in human brain.
Article in Cell reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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Who cites it
8 citing papers in PubMed.
- Long-Read RNA Sequencing Reveals an Isoform Switching Pattern in Healthy Microglial Cell Lines Exposed to Radiotherapy.Non-coding RNA · 2026Article
- Beyond the gene: isoform diversity as a key contributor to human brain disorders.Current opinion in genetics & development · 2026Review
- Long-read transcriptomics of purified human cortical cell types exposes glial isoform complexity and disease-relevant transcript architecture.bioRxiv : the preprint server for biology · 2026Article
- TDP-43: [GU]-ardian of the transcriptome.Molecular neurodegeneration · 2026Review
- cGAS inhibition delays TDP-43-driven ALS Pathogenesis.bioRxiv : the preprint server for biology · 2026Article
- Review
- Long-Read Sequencing Reveals RNA Splicing Complexity in Human Diseases.Computational and structural biotechnology journal · 2026Review
- Review
Corrections and comments
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Authors and funding
30 authors.
Funding
Abstract
Progranulin-deficient frontotemporal dementia (GRN-FTD) is a major cause of familial FTD with TAR DNA-binding protein 43 (TDP-43) pathology, which is linked to exon dysregulation. However, little is known about this dysregulation in glial and neuronal cells. Here, using splice-junction-covering enrichment probes, we introduce single-nuclei long-read RNA sequencing 2 (SnISOr-Seq2), targeting 3,630 high-interest genes without loss of precision, and complete the first single-cell, long-read-resolved case-control study for neurodegeneration. Exons affected by FTD-associated skipping are shorter than those whose inclusion is increased. Up to 30% of cell-(sub)type-specific splicing dysregulation is masked by other cell types or cortical layers. Surprisingly, strong splicing dysregulation events can occur in select but not all cell types. In some cases, a cell type switches in FTD to the splicing pattern of a different cell type. In addition, in separate GRN-FTD samples, the more FTD-prone frontal cortex exhibits more FTD-associated splicing patterns than the occipital cortex. Our methodologies are widely applicable to brain and other diseases.
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Registered trials
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