Human iPSC-derived neural stem cells with ALDH5A1 mutation as a model of succinic semialdehyde dehydrogenase deficiency
Abstract Background 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. SSADH-D is primarily studied using simpl...
Main Authors: | , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2022-12-01
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Series: | BMC Neuroscience |
Subjects: | |
Online Access: | https://doi.org/10.1186/s12868-022-00755-3 |