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Human iPSC-derived neural stem cells with ALDH5A1 mutation as a model of succinic semialdehyde dehydrogenase deficiency

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 simplified mo...

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Detalles Bibliográficos
Autores principales: Chen, Xiaodan, Peng, Minzhi, Cai, Yanna, Zhou, Chengcheng, Liu, Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9756581/
https://www.ncbi.nlm.nih.gov/pubmed/36527006
http://dx.doi.org/10.1186/s12868-022-00755-3