GEO series
Targeting AASS improves neurotoxicity and mitochondrial function in astrocyte models for pyridoxine dependent epilepsy
GSE287216
Homo sapiens
Expression profiling by high throughput sequencing
15 samples
2025/11/13
GPL24676
Summary
Pyridoxine-dependent epilepsy (PDE) is a rare neurometabolic disorder of lysine catabolism, which is caused by pathogenic variants in ALDH7A1. In this study, we performed RNA sequencing on differentiated astrocytes derived from patient and isogenic knock-out iPSC lines. We identified a reduced expression of genes associated with oxygen response, which correlates with heightened oxidative stress in PDE astrocytes.
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Paper (PMID 41158987) ↗
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