Structural and Biochemical Consequences of Pyridoxine-Dependent Epilepsy Mutations That Target the Aldehyde Binding Site of Aldehyde Dehydrogenase ALDH7A1

In humans, certain mutations in the gene encoding aldehyde dehydrogenase 7A1 are associated with pyridoxine-dependent epilepsy (PDE). Understanding the impact of PDE-causing mutations on the structure and activity of ALDH7A1 could allow for the prediction of symptom-severity and aid the development...

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Bibliographic Details
Published in:FEBS J
Main Authors: Laciak, Adrian R., Korasick, David A., Wyatt, Jesse W., Gates, Kent S., Tanner, John J.
Format: Artigo
Language:Inglês
Published: 2019
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Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6944758/
https://ncbi.nlm.nih.gov/pubmed/31302938
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/febs.14997
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