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ALDH5A1 nonsense mutation is associated with reduced Succinic semialdehyde dehydrogenase activity and stability resulting in Succinic semialdehyde dehydrogenase deficiency.
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By ALDH5A1 gene expression in transiently transfected HEK293 cells and enzyme activity assays, we demonstrate that the p.V500 L mutation, despite being conservative, produces complete loss of enzyme activity
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ALDH5A1 mRNA expression was down-regulated in ovarian cancer patients compared with that in normal tissues.
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SSADH catalytic loop role in the SSADH redox-switch modulation
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The proband was found to have compound heterozygous mutations of the succinate-semialdehyde dehydrogenase (ALDH5A1) gene, namely c.398_399delAA (p.N134X) and c.638G>T (p.R213L), for which her parents were both heterozygous carriers.
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Two novel ALDH5A1 mutations likely responsible for SSADH deficiency were identified, and DNA sequencing provided an accurate diagnosis for an at-risk fetus whose sibling had SSADH deficiency. Current study and literature review identified nine additional novel mutations in eight unrelated families bringing the number of unique mutations of ALDH5A1 resulting in SSADH deficiency to 44, occurring from exon 1 to exon 10.
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Pearl et al. identify 3 new pathogenic mutations in the ALDH5A1 gene previously unreported in the literature. EXON: 1 Nucleotide change: c.412 C>T Change in protein: p.L138F EXON: 4 Nucleotide change: c.754G>T Change in protein: p.Q252X EXON: 8 Nucleotide change: c.1360G>A Change in protein: p.A454T
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Missense mutation in ALDH5A1 is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability.
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Results show that opioid-dependent patients carrying the T allele of a functional variant in ALDH5A1 had a greater risk of being nonresponders to methadone maintenance treatment
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The strongest association signal arose from an intronic region of the gene ALDH5A1, which encodes the mitochondrial enzyme succinic semialdehyde dehydrogenase (SSADH), an enzyme involved in gamma-aminobutyric acid metabolism.
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Missense mutations of c.527G>A and c.691G>A in the ALDH5A1 gene are associated with pathogenesis of succinic semialdehyde dehydrogenase deficiency.
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Succinic semialdehyde dehydrognase deficiency is caused by a mutation of the Aldh5a1-gene resulting in a dysfunction of the enzyme succinic semialdehyde dehydrogenase--{REVIEW}
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our study identified a novel homozygous ALDH5A1 gene mutation associated with SSADH deficiency.
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Study seeks to determine whether cerebellar abnormalities are present in human succinic semialdehyde dehydrogenase deficiency on volumetric MRI, compared with radiographic and histologic studies in the mouse model.
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the duplication (6)(p22.2) and corresponding hyperactive level of SSADH activity may have negative consequences for GABA metabolism
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This study indicated that global disruption of cortical networks in SSADH KO mice, affecting both excitatory and inhibitory neurons.
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High activity of this protein probably indicates disorders in lymphocyte energy state.
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Higher SSADH activity is associated with higher intelligence across the general population.
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The unexpected pattern of human SSADH polymorphism compared to interspecific findings outlines the possibility of a recent positive selection on some variants relevant to new cognitive capabilities unique to humans.
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Deficiency in humans causes ggamma-hydroxybutyric aciduria.
