Article

Phenotypic Correlates of Structural and Functional Protein Impairments Resultant from ALDH5A1 Variants

2023-07-10

Abstract excerpt

<h4>Objective: </h4> To investigate the genotype-to-protein-to-phenotype correlations of succinic semialdehyde dehydrogenase deficiency (SSADHD), an inherited metabolic disorder of γ-aminobutyric acid catabolism. Methods Bioinformatics and in silico mutagenesis analyses of ALDH5A1 variants were performed to evaluate their impact on protein stability, active site and co-factor binding domains, splicing, and homote...

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Literature Corpus work: bc901f97-b266-5b50-994e-ce924d056741
DOI: 10.21203/rs.3.rs-3111263/v1

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