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Targeting AASS improves neurotoxicity and mitochondrial function in astrocyte models for pyridoxine dependent epilepsy

ABSTRACT: 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.

ORGANISM(S): Homo sapiens

PROVIDER: GSE287216 | GEO | 2025/11/13

REPOSITORIES: GEO

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Targeting AASS improves neurotoxicity and mitochondrial function in astrocyte models for pyridoxine dependent epilepsy

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