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Targeting mutation-agnostic disease pathways ameliorates ciliopathy-related mesenchymal drift in RPE

GSE316614 Homo sapiens (human) RNA-seq (gene expression) 69 samples Submitted 2026/07/30 Platform GPL24676
At a glance

RNA-seq (gene expression) · human · 69 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
69 samples: 16 conditions, mostly in triplicateGroups 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)
Ciliopathies are a family of disorders involving mutations in over 150 genes affecting the primary cilium, with retinal degeneration as a prominent feature driven by concomitant developmental and maturation defects in photoreceptors and the retinal pigment epithelium (RPE). Current single-gene-targeted therapeutic approaches are expensive with limited scalability.
Read the full summary ↓
We hypothesized that downstream of primary cilium dysfunction, mutation-agnostic shared pathways initiate tissue defects. To test this hypothesis, we developed induced pluripotent stem cell-derived RPE models (iRPE) from multiple (BBS1, BBS10, BBS16, CEP290, LCA5, MYO7A, PRPF31) ciliopathy patients with severe retinal degeneration. Despite varying in severity, consistent with the structural ciliary defects, all ciliopathy iRPE displayed abnormal epithelial polarization and mitochondrial health initiated by dysregulated TGF-B signaling driven mesenchymal drift. Addressing these gene-agnostic disease phenotypes, our study identifies two drugs, Pioglitazone, a mitochondrial metabolic modulator, and Galunisertib, a TGFBR1 inhibitor, as potential therapeutic candidates for multiple ciliopathy subtypes.
This dataset
Open GSE316614 in finder → Find more human 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 GSE316614_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 PRJNA1403479 and SRA study SRP662791. Searching any of these in the dataset finder brings you back here.

NCBI GEO page ↗
Study design
16 conditions, mostly in triplicate
LCA5 D ×3 BBS16 D ×3 CTRL MS19H D ×3 BBS1B D ×3 BBS__GAL BBS_GAL ×3 BBS__PIO BBS_PIO ×3 BBS__UT BBS_UT ×3 CEP290__GAL CEP290_GAL ×3 +29 more

Supports a between-group comparison across 48 samples.

How we read this: 16 replicated groups read from 69 sample titles; they account for 48 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

+ 29 more — browse all 69 samples with per-sample file links →

Datasets on a similar topic

Search all human 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.