Associated Papers
Analysis of clinical features and genetic variants in Chinese children with pyridoxine-dependent epilepsy: a case series study.
Yu X et al.
Frontiers in Neurology, 2025
40979201 (PubMed )
Supplement: Table_1.xlsx › HGMD______
Identifying the Molecular Drivers of Pathogenic Aldehyde Dehydrogenase Missense Mutations in Cancer and Non-Cancer Diseases.
Jessen-Howard D et al.
International Journal of Molecular Sciences, 2023
37373306 (PubMed )
Supplement: ijms-24-10157-s001.zip › aldh_base_cancer_otherdiseases_benign_supps.xlsx › aldh_base_cancer_otherdiseases_
Insights into Aldehyde Dehydrogenase Enzymes: A Structural Perspective.
Shortall K et al.
Frontiers in Molecular Biosciences, 2021
Structural analysis of pathogenic mutations targeting Glu427 of ALDH7A1, the hot spot residue of pyridoxine-dependent epilepsy.
Laciak AR et al.
Journal of Inherited Metabolic Disease, 2020
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.
Coughlin CR et al.
Journal of Inherited Metabolic Disease, 2019
Overexpression of recombinant human antiquitin in E. coli: partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy.
Coulter-Mackie MB et al.
Molecular Genetics and Metabolism, 2014
Overexpression of human antiquitin in E. coli: enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy.
Coulter-Mackie MB et al.
Molecular Genetics and Metabolism, 2012
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