The region includes genes encoding a CoA-dependent methylmalonate semialdehyde dehydrogenase (dntE), a putative NADH-dependent dehydrogenase (ORF13), and a bifunctional isomerase/hydrolase (dntG). ❋ Unknown (2010)
Chambliss K, Hinson DD, Trettel F, Malaspina P, Novelletto A, et al. (1998) Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric adicuria). ❋ Christopher G. Langendorf Et Al. (2010)
Rothacker B, Ilg T (2008) Saturation transfer difference NMR studies on substrates and inhibitors of succinic semialdehyde dehydrogenases. ❋ Christopher G. Langendorf Et Al. (2010)
Yoo BK, Lee SJ, Cho SW, et al. (1995) Bovine brain succinic semialdehyde dehydrogenase; purification, kinetics and reactivity of lysyl residues connected with catalytic activity. ❋ Christopher G. Langendorf Et Al. (2010)
Pearl PL, Bottiglieri T, Snead OC, Jakobs C, et al. (2007) Theraputic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency ❋ Christopher G. Langendorf Et Al. (2010)
Gupta M, Senephansiri H, Burlingame TG, Taylor M, et al. (2001) Pharmacologic rescue of lethal seizures in mice deficient in succinic semialdehyde dehdrogenase. ❋ Christopher G. Langendorf Et Al. (2010)
SSA is then converted to γ-hydroxybutyrate (GHB) by succinic semialdehyde reductase (SSR), pathway coloured in red, which is described in SSDAH deficiency. ❋ Christopher G. Langendorf Et Al. (2010)
* 'By the addition of hydrogen and ammonia to carbon suboxide, malonamide semialdehyde or malonamide semialdimine might be obtained. ❋ Unknown (2010)
Hoffmann GF, Hodson AK, Bottiglieri T, Jakobs C (1998) 4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, and inborn error of GABA metabolism. ❋ Christopher G. Langendorf Et Al. (2010)
Boyl PP, Ledda M, Novelletto A, Gibson KM, et al. (2002) Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms. ❋ Christopher G. Langendorf Et Al. (2010)
Chambliss K, Gibson KM (1992) Succinic semialdehyde dehydrogenase from mammalian brain: subunit analysis using polyclonal antiserum. ❋ Christopher G. Langendorf Et Al. (2010)
Malaspina P (2006) Succinic semialdehyde dehydrogenase deficiency: clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation. ❋ Christopher G. Langendorf Et Al. (2010)
Akaboshi S, Hogema BM, Novelletto A, Malaspina P, Salomons GS, et al. (2003) Mutational spectrum of the succinic semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency. ❋ Christopher G. Langendorf Et Al. (2010)
Aoshima T, Kajita M, Sekido Y, Ishiguro Y, Tsuge I, et al. (2002) Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-454del and 1460T > ❋ Christopher G. Langendorf Et Al. (2010)
Australia In mammals succinic semialdehyde dehydrogenase (SSADH) plays an essential role in the metabolism of the inhibitory neurotransmitter γ-aminobutyric acid (GABA) to succinic acid ❋ Christopher G. Langendorf Et Al. (2010)
In Escherichia coli, two genetically distinct forms of SSADHs had been described that are essential for preventing accumulation of toxic levels of succinic semialdehyde (SSA) in cells. ❋ Christopher G. Langendorf Et Al. (2010)
In mammals succinic semialdehyde dehydrogenase (SSADH) plays an essential role in the metabolism of the inhibitory neurotransmitter γ-aminobutyric acid (GABA) to succinic acid ❋ Christopher G. Langendorf Et Al. (2010)
Novotny EJ, Acosta MT, Jakobs CJ, Gibson KM (2003) Succinic semialdehyde dehydrogenase deficiency in children and adults. ❋ Christopher G. Langendorf Et Al. (2010)
