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Article

Is impaired energy production a novel insight into the pathogenesis of pyridoxine-dependent epilepsy due to biallelic variants in ALDH7A1?

PloS one - 1 Jan 2021

Minenkova Anastasia, Jansen Erwin E W, Cameron Jessie, Barto Rob, Hurd Thomas, MacNeil Lauren, Salomons Gajja S, Mercimek-Andrews Saadet

Abstract excerpt

BACKGROUND: Pyridoxine-dependent epilepsy (PDE) is due to biallelic variants in ALDH7A1 (PDE-ALDH7A1). ALDH7A1 encodes α-aminoadipic semialdehyde dehydrogenase in lysine catabolism. We investigated the gamma aminobutyric acid (GABA) metabolism and energy production pathways in human PDE-ALDH7A1 and its knock-out aldh7a1 zebrafish model. METHODS: We measured GABA pathway, and tricarboxylic acid cycle metabolites...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34495967
DOI: 10.1371/journal.pone.0257073
PMCID: PMC8425566

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