Omics · study · 2026
Deciphering the PURA syndrome: loss of PURA alters neural cell fate decisions and impairs neuronal homeostasis
Listed in NCBI GEO
PURA syndrome is a rare neurodevelopmental disorder caused by heterozygous de novo mutations in the PURA gene, leading to intellectual disability, hypotonia, and epilepsy.
Description
While the molecular functions of PURA have been partially elucidated, its role in human neural development remains unclear. We used PURA-knockout (KO) human induced pluripotent stem cells (iPSCs) and isogenic controls to generate 2D neural progenitor cultures and 3D cerebral organoids.Transcriptomic profiling identified PURA-regulated RNAs critical for early neuronal development.
Links
Get the data
- GEO FTP directory ftp.ncbi.nlm.nih.gov/geo/series/GSE323nnn/GSE323991 ↗
download · from NCBI GEO
Where it is published
- GEO accession page ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE323991 ↗
landing page · from NCBI GEO
Documentation and papers
- PRJNA1432925 ncbi.nlm.nih.gov/bioproject/PRJNA1432925 ↗
project · from NCBI GEO
Topics
- Stated by source
- Expression profiling by high throughput sequencing · Homo sapiens
- From keywords
- Life Sciences
Provenance · 1 source records, 7 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| NCBI GEO | GSE323991 | 13 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| access_level | source · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| concepts[method].geo_series_type:expression-profiling-by-high-throughput-sequencing | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /gdstype |
| concepts[organism].NCBITaxon:9606 | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /taxon |
| description | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /summary |
| publication_date | source · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| title | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /title |