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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...
Gardado en:
| Publicado en: | FEBS J |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
2019
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| Assuntos: | |
| Acceso en liña: | 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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