Article
Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants.
Human genetics - 1 Dec 2023
Tokatly Latzer Itay, Roullet Jean-Baptiste, Cesaro Samuele, DiBacco Melissa L, Arning Erland, Rotenberg Alexander, Lee Henry H C, Opladen Thomas, Jeltsch Kathrin, García-Cazorla Àngels, Juliá-Palacios Natalia, Gibson K Michael, Bertoldi Mariarita, Pearl Phillip L
Abstract excerpt
To investigate the genotype-to-protein-to-phenotype correlations of succinic semialdehyde dehydrogenase deficiency (SSADHD), an inherited metabolic disorder of γ-aminobutyric acid catabolism. 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 homotetramer formation. Protein...
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