{"database":"GEO","file_versions":[{"headers":{"Content-Type":["application/json"]},"body":{"files":{"Other":["ftp://ftp.ncbi.nlm.nih.gov/geo/series/GSE303nnn/GSE303429/"]},"type":"primary"},"statusCodeValue":200,"statusCode":"OK"}],"scores":null,"additional":{"omics_type":["Transcriptomics"],"species":["Mus musculus"],"gds_type":["Expression profiling by high throughput sequencing"],"full_dataset_link":["https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE303429"],"repository":["GEO"],"entry_type":["GSE"],"additional_accession":[]},"is_claimable":false,"name":"4-hydroxymandelate acid or astrocyte specific gene therapy is sufficient to rescue a hpdl-related neurometabolic disease","description":"Biallelic mutations in HPDL cause a rare form of infantile-onset mitochondrial encephalopathy, yet the mechanisms underlying disease pathogenesis remain poorly understood. Here, we show that Hpdl-deficient mice exhibit early lethality, seizures, impaired brain development, and coenzyme Q deficiency. Astrocyte-specific Hpdl deletion recapitulated key metabolic and structural abnormalities, indicating a central role for glial dysfunction. Single-nucleus RNA sequencing identified disease-associated astrocyte subpopulations with reactive signatures, impaired glutamate transport, and transcriptional dysregulation linked to energy failure.","dates":{"publication":"2026/07/01"},"accession":"GSE303429","cross_references":{"GSM":["GSM9126542","GSM9126541","GSM9126540","GSM9126539"],"GPL":["34290"],"GSE":["303429"],"taxon":["Mus musculus"]}}