ArticleJournal of inherited metabolic disease2020
Structural analysis of pathogenic mutations targeting Glu427 of ALDH7A1, the hot spot residue of pyridoxine-dependent epilepsy.
Article in Journal of inherited metabolic disease, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 12 citations in OpenAlex.
- Biochemical, structural, and computational analyses of two new clinically identified missense mutations of ALDH7A1.Chemico-biological interactions · 2024Article
- Structural Insight into the Catalytic Mechanisms of an L-Sorbosone Dehydrogenase.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2023Article
- Case report: Fatal outcome of pyridoxine-dependent epilepsy presenting as respiratory distress followed by a circulatory collapse.Frontiers in pediatrics · 2022Article
- Impact of missense mutations in the ALDH7A1 gene on enzyme structure and catalytic function.Biochimie · 2021Review
- Insights into Aldehyde Dehydrogenase Enzymes: A Structural Perspective.Frontiers in molecular biosciences · 2021Review
- Inhibition, crystal structures, and in-solution oligomeric structure of aldehyde dehydrogenase 9A1.Archives of biochemistry and biophysics · 2020Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Certain loss-of-function mutations in the gene encoding the lysine catabolic enzyme aldehyde dehydrogenase 7A1 (ALDH7A1) cause pyridoxine-dependent epilepsy (PDE). Missense mutations of Glu427, especially Glu427Gln, account for ~30% of the mutated alleles in PDE patients, and thus Glu427 has been referred to as a mutation hot spot of PDE. Glu427 is invariant in the ALDH superfamily and forms ionic hydrogen bonds with the nicotinamide ribose of the NAD
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Registered trials
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