Associated Papers
Central Dysmyelination in SSADH-Deficient Humans and Mice.
Tokatly Latzer I et al.
Annals of Clinical and Translational Neurology, 2025
Generation and characterization of six human induced pluripotent stem cell lines (hiPSCs) from three individuals with SSADH Deficiency and CRISPR-corrected isogenic controls.
Afshar-Saber W et al.
Stem Cell Research, 2024
Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective.
Peters TMA et al.
Journal of Inherited Metabolic Disease, 2024
ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations.
Afshar-Saber W et al.
Neurobiology of Disease, 2024
Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis.
Glinton KE et al.
Frontiers in Genetics, 2024
Autism spectrum disorder and GABA levels in children with succinic semialdehyde dehydrogenase deficiency.
Tokatly Latzer I et al.
Developmental Medicine and Child Neurology, 2023
Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants.
Tokatly Latzer I et al.
Human Genetics, 2023
The presence and severity of epilepsy coincide with reduced γ-aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency.
Tokatly Latzer I et al.
Epilepsia, 2023
Succinic Semialdehyde Dehydrogenase Deficiency: An Update.
Didiášová M et al.
Cells, 2020
Inherited disorders of gamma-aminobutyric acid metabolism and advances in ALDH5A1 mutation identification.
Pearl PL et al.
Developmental Medicine and Child Neurology, 2015
Phenotype prediction of deleterious nonsynonymous single nucleotide polymorphisms in human alcohol metabolism-related genes: a bioinformatics study.
Wang LL et al.
Alcohol (fayetteville, N.y.), 2010
D-2-hydroxyglutaric aciduria in three patients with proven SSADH deficiency: genetic coincidence or a related biochemical epiphenomenon?
Struys EA et al.
Molecular Genetics and Metabolism, 2006
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