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anti-Human ALDH5A1 Antikörper:
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Human Polyclonal ALDH5A1 Primary Antibody für ELISA, WB - ABIN4279271
Joslyn, Ravindranathan, Brush, Schuckit, White: Human variation in alcohol response is influenced by variation in neuronal signaling genes. in Alcoholism, clinical and experimental research 2010
Human Polyclonal ALDH5A1 Primary Antibody für ICC, IF - ABIN4279272
Ippolito, Piwnica-Worms: A fluorescence-coupled assay for gamma aminobutyric acid (GABA) reveals metabolic stress-induced modulation of GABA content in neuroendocrine cancer. in PLoS ONE 2014
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
ALDH5A1 mRNA expression was down-regulated in ovarian cancer patients compared with that in normal tissues.
SSADH catalytic loop role in the SSADH redox-switch modulation
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.
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.
Pearl (zeige AP3B1 Antikörper) 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
Missense mutation in ALDH5A1 is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability.
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
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.
Missense mutations of c.527G>A and c.691G>A in the ALDH5A1 gene are associated with pathogenesis of succinic semialdehyde dehydrogenase deficiency.
These data show that enhanced, rather than compromised, GABA(A) receptor-mediated inhibition occurs in cortico-thalamic networks of SSADH(-/-) mice.
Normal SSADH activity in the Canavan disease (CD) mouse brain suggests that mental retardation and hypotonia seen in the CD mouse is not due to SSADH activity.
murine succinate semialdehyde dehydrogenase has a role in regulating myelin expression
Although our results suggest hippocampal and cortical dysfunction in Aldh5a1 (zeige ALDH4A1 Antikörper)(-/-) brain, we found no evidence that accumulating key metabolites of SSADH deficiency directly induce impairment of energy metabolism.
SSADH deficiency leads to elevated extracellular GABA levels and increased GABAergic neurotransmission in the mouse cerebral cortex
This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA). In response to the defect, physiologic fluids from patients accumulate GHB, a compound with numerous neuromodulatory properties. Two transcript variants encoding distinct isoforms have been identified for this gene.
NAD(+)-dependent succinic semialdehyde dehydrogenase
, aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase)
, aldehyde dehydrogenase 5A1
, aldehyde dehydrogenase family 5 member A1
, succinate-semialdehyde dehydrogenase, mitochondrial
, succinic semialdehyde dehydrogenase
, aldehyde dehydrogenase 5 family, member A1
, mitochondrial succinate semialdehyde dehydrogenase
, aldehyde dehydrogenase family 5, subfamily A1
, aldehyde dehydrogenase 1, mitochondrial