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Human iPSC-Derived Neural Stem Cells with ALDH5A1 Mutation as a Model of Succinic Semialdehyde Dehydrogenase Deficiency

2022-06-14

Abstract excerpt

<h4>Background: </h4> Succinic semialdehyde dehydrogenase deficiency (SSADH-D) is an autosomal recessive gamma-aminobutyric acid (GABA) metabolism disorder that can arise due to ALDH5A1 mutations, resulting in severe, progressive, untreatable neurodegeneration. The SSADH-D is primarily studied using simplified model symptoms such as HEK293 cells overexpressing genes of interest, but such overexpression can result...

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Literature Corpus work
8f159202-acd4-54cd-adf6-fe575e3aee53
DOI
10.21203/rs.3.rs-1577928/v1
Open publication

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