Structural analysis of pathogenic mutations targeting Glu427 of ALDH7A1, the hot spot residue of pyridoxine‐dependent epilepsy
Author:
Affiliation:
1. Department of Chemistry University of Missouri Columbia Missouri
2. Department of Biochemistry University of Missouri Columbia Missouri
Funder
National Institute of General Medical Sciences
National Institutes of Health
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12184
Reference40 articles.
1. The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy
2. Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum
3. Pyridoxine dependent epilepsy and antiquitin deficiency
4. The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1
5. Mutations in antiquitin in individuals with pyridoxine-dependent seizures
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1. Biochemical, structural, and computational analyses of two new clinically identified missense mutations of ALDH7A1;Chemico-Biological Interactions;2024-05
2. Genotype and phenotype features and prognostic factors of neonatal-onset pyridoxine-dependent epilepsy: A systematic review;Epilepsy Research;2024-05
3. Structural Insight into the Catalytic Mechanisms of an L‐Sorbosone Dehydrogenase;Advanced Science;2023-09-07
4. Crystal structure of aldehyde dehydrogenase 1A1 from mouse;Biochemical and Biophysical Research Communications;2022-11
5. Case report: Fatal outcome of pyridoxine-dependent epilepsy presenting as respiratory distress followed by a circulatory collapse;Frontiers in Pediatrics;2022-07-28
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