Omics · study · 2026
RNA-seq of a Leigh Syndrome patient blood being treated with Omaveloxolone.
Listed in NCBI GEO
A male patient diagnosed with Leigh Syndrome due to a compound heterizygous mutation in SURF1 (SURF1 c.312_321del10insAT (p.Leu105*); SURF1 c.574C>T (p.Arg192Trp)) was prescribed Omaveloxolone under physican supervision.
Description
Pre-treatment patient blood showed deficiency in pathways associated with oxidative phosphorylion and cellular energetics. Omaveloxolone normalized this phenotype via enrichment of these pathways.
Links
Get the data
- GEO FTP directory ftp.ncbi.nlm.nih.gov/geo/series/GSE318nnn/GSE318208 ↗
download · from NCBI GEO
Where it is published
- GEO accession page ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE318208 ↗
landing page · from NCBI GEO
Documentation and papers
- PRJNA1416919 ncbi.nlm.nih.gov/bioproject/PRJNA1416919 ↗
project · from NCBI GEO
Topics
- Stated by source
- Expression profiling by high throughput sequencing · Homo sapiens
- From keywords
- Life Sciences
- Inferred from text
- RNA sequencing 65%
Provenance · 1 source records, 8 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| NCBI GEO | GSE318208 | 15 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[modality].local:modality:rna-seq | enrichment · NCBI GEO | keyword-concept-rules@1.0.0 | title+description (65%) |
| 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 |