{"database":"GEO","file_versions":[{"headers":{"Content-Type":["application/json"]},"body":{"files":{"Other":["ftp://ftp.ncbi.nlm.nih.gov/geo/series/GSE318nnn/GSE318208/"]},"type":"primary"},"statusCodeValue":200,"statusCode":"OK"}],"scores":null,"additional":{"omics_type":["Transcriptomics"],"species":["Homo sapiens"],"gds_type":["Expression profiling by high throughput sequencing"],"full_dataset_link":["https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE318208"],"repository":["GEO"],"entry_type":["GSE"],"additional_accession":[]},"is_claimable":false,"name":"RNA-seq of a Leigh Syndrome patient blood being treated with Omaveloxolone.","description":"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.","dates":{"publication":"2026/08/01"},"accession":"GSE318208","cross_references":{"GSM":["GSM9489301","GSM9489312","GSM9489311","GSM9489310","GSM9489309","GSM9489308","GSM9489307","GSM9489306","GSM9489305","GSM9489304","GSM9489303","GSM9489314","GSM9489313","GSM9489302"],"GPL":["34284"],"GSE":["318208"],"taxon":["Homo sapiens"]}}