Omics · study · 2026
RNA-seq of a Leigh Syndrome patient blood being treated with Omaveloxolone
Listed in NCBI GEO
A patient diagnosed with Leigh Syndrome due to a compound heterizygous mutation in SURF1 (SURF1 c.312_321delinsAT (p.L105X); c.-13_11del24) 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.
Enrichment of these pathways could be due to up-regulation of the master transcription factor PPARGC1A.
Links
Get the data
- GEO FTP directory ftp.ncbi.nlm.nih.gov/geo/series/GSE306nnn/GSE306316 ↗
download · from NCBI GEO
Where it is published
- GEO accession page ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE306316 ↗
landing page · from NCBI GEO
Documentation and papers
- PRJNA1310465 ncbi.nlm.nih.gov/bioproject/PRJNA1310465 ↗
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 | GSE306316 | 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[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 |