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Article

Increased susceptibility to 4-HNE-induced toxicity and impaired development in a model of ALDH4A1-deficient pediatric epilepsy carrying the S352L variant.

Communications biology - 14 Mar 2026

Kraemer Benjamin R, Heo Gwangbeom, Chen Che-Hong, Mochly-Rosen Daria

Abstract excerpt

Certain human mutations in the mitochondrial aldehyde dehydrogenase 4A1 (ALDH4A1) lead to a severe, paediatric form of epilepsy and developmental abnormalities, yet the precise molecular mechanism leading to the clinical phenotypes remains unexplained. ALDH4A1 metabolizes glutamic-γ-semialdehyde (GSA). Mutations in ALDH4A1, which lead to inactive enzyme variants, cause GSA to accumulate and vitamin B6...

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Source

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Identifiers

PMID: 41832353
DOI: 10.1038/s42003-026-09845-y
PMCID: PMC13133146

Genes

ALDH4A1
ALDH2
FOXB1
LGI1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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