← BioTransfer GEO Dataset Finder
GEO series

Single-nucleus and spatial transcriptomics of human ovary: Molecular insights into signaling pathways underlying primary ovarian insufficiency in classic galactosemia

GSE267932 Homo sapiens Expression profiling by high throughput sequencing 9 samples Submitted 2025/02/19 Platform GPL24676
Summary
Classic galactosemia (CG) is a rare inborn error of galactose metabolism caused by mutations in GALT gene. Primary ovarian insufficiency (POI) is a later complication that affects 80% of women with CG due to significant decline in ovarian follicle reserve. The definite mechanisms underlying the early onset of POI in CG patients is not fully understood. We utilized single-nucleus RNA sequencing (snRNA-seq) to generate a single-nucleus transcriptomic atlas of human ovaries from pre-pubertal girls with CG to investigate dynamic gene expression profiles in ovarian follicles and stromal cells. Our snRNA-seq analysis revealed activation of several key genes involved in endoplasmic reticulum-stress and oxidative stress pathways which can promote apoptosis and autophagy of follicles. PTEN/PI3K/AKT signaling pathway crucial for primordial follicle activation and survival was dysregulated as evident by upregulated PTEN transcripts, marked reduction in phospho-AKT and increased CASP9 immunostaining intensity in the ovarian follicles of CG group.
Published in
Single-nucleus and spatial transcriptomics of paediatric ovary: Molecular insights into the dysregulated signalling pathways underlying premature ovarian insufficiency in classic galactosemia
Kavarthapu R, Lou H, Pham T et al. · Clinical and translational medicine 2024 · PMID 39440457 · doi:10.1002/ctm2.70043
This dataset
Download

Direct links to NCBI, no account and no request form: the whole study as GSE267932_RAW.tar, processed values as the series matrix, the supplementary file directory, and per-sample supplementary files for any of the 9 samples. Raw sequencing reads are also available from ENA.

Also filed as BioProject PRJNA1113659 and SRA study SRP508809. Searching any of these in the dataset finder brings you back here.

Samples in this study

The sample list for this study is not cached yet. Press Sort into groups and it will be fetched from NCBI.

+ 9 more — browse all 9 samples with per-sample file links →

Similar datasets

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.