GEO series
RNA-seq of a Leigh Syndrome patient blood being treated with Omaveloxolone.
GSE318208
Homo sapiens
Expression profiling by high throughput sequencing
14 samples
2026/08/01
GPL34284
Summary
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. Pre-treatment patient blood showed deficiency in pathways associated with oxidative phosphorylion and cellular energetics. Omaveloxolone normalized this phenotype via enrichment of these pathways.
Download
NCBI GEO page ↗
{# Names what the click gives you. "Open in finder" meant nothing to a
visitor who arrived from a search engine and has never seen the tool. #}
Find more
human RNA-seq datasets →
Similar datasets
- GSE328275 Single-cell RNA sequencing of CD45+ immune cells across primary tumor, sentinel tumor-draining lymph node, and axillary lymph node in treatment-naive triple-negative breast cancer 28 samples
- GSE341753 Cohesin loading at regulatory elements shapes 3D genome folding during erythropoiesis [RNA-Seq] 12 samples
- GSE319969 Spatial and Bulk Transcriptomic Profiling Defines the Molecular Evolution of Cutaneous Squamous Cell Carcinoma and Reveals Stage-Specific Biomarkers of Clinical Relevance [RNA-Seq] 24 samples
- GSE313035 METIMMOX: Colorectal Cancer METastasis - Shaping Anti-tumor IMMunity by OXaliplatin 67 samples
- GSE342462 Integrated transcriptomic and bioelectrical profiling of stem-like cellular states in a colorectal cancer using SdFFF and UHF-DEP 12 samples
- GSE339456 Integrated bulk and spatial transcriptomic analysis identifies progression-associated molecular signatures in biopsy-proven hypertensive nephropathy [RNA-seq] 35 samples
- GSE199939 Comprehensive transcriptomic analysis of immune-related genes in diabetic foot ulcers: New insights into mechanisms and therapeutic targets 21 samples
- GSE336982 Obesity Promotes Lung Carcinogenesis Through Airway Immune Dysfunction 183 samples
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.