ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations

ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations

Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a neurometabolic disorder caused by ALDH5A1 mutations presenting with autism and epilepsy. SSADHD leads to impaired GABA metabolism and results in accumulation of GABA and γ-hydroxybutyrate (GHB), which alter neurotransmission and are though...

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Bibliographic Details
Main Authors: Wardiya Afshar-Saber, Nicole A. Teaney, Kellen D. Winden, Hellen Jumo, Xutong Shi, Gabrielle McGinty, Jed Hubbs, Cidi Chen, Itay Tokatly Latzer, Federico Gasparoli, Darius Ebrahimi-Fakhari, Elizabeth D. Buttermore, Jean-Baptiste Roullet, Phillip L. Pearl, Mustafa Sahin
Format: Article
Language:English
Published: Elsevier 2024-01-01
Series:Neurobiology of Disease
Subjects:
Epilepsy
Autism spectrum disorder
Stem cell derived neurons
GABA metabolism
Mitochondrion
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996123004023

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http://www.sciencedirect.com/science/article/pii/S0969996123004023

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