Citations for
Redox-switch modulation of human SSADH by dynamic catalytic loop.
Kim YG, Lee S, Kwon OS, Park SY, Lee SJ, Park BJ, Kim KJ.
EMBO J 28(7):959-68. Epub 2009 Mar 19. 2009
Cognitive functioning and survival in the elderly: the SSADH C538T polymorphism.
De Rango F, Leone O, Dato S, Novelletto A, Bruni AC, Berardelli M, Mari V, Feraco E, Passarino G, De Benedictis G.
Ann Hum Genet 72(Pt 5):630-5. Epub 2008 May 23. 2008
Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (gamma-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and characterization of gamma-hydroxybutyric acid pharmacology.
Knerr I, Pearl PL, Bottiglieri T, Snead OC, Jakobs C, Gibson KM.
J Inherit Metab Dis 30(3):279-94. Epub 2007 Apr 24. 2007
Succinic semialdehyde dehydrogenase deficiency: clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation.
Blasi P, Palmerio F, Caldarola S, Rizzo C, Carrozzo R, Gibson KM, Novelletto A, Deodato F, Cappa M, Dioni-Vici C, Malaspina P.
Clin Genet 69(3):294-6. No abstract available. 2006
SSADH variation in primates: intra- and interspecific data on a gene with a potential role in human cognitive functions.
Blasi P, Palmerio F, Aiello A, Rocchi M, Malaspina P, Novelletto A.
J Mol Evol 63(1):54-68. Epub 2006 Jun 17. 2006
Increased guanidino species in murine and human succinate semialdehyde dehydrogenase (SSADH) deficiency.
Jansen EE, Verhoeven NM, Jakobs C, Schulze A, Senephansiri H, Gupta M, Snead OC, Gibson KM.
Biochim Biophys Acta 1762(4):494-8. Epub 2006 Feb 10. 2006
Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency.
Akaboshi S, Hogema BM, Novelletto A, Malaspina P, Salomons GS, Maropoulos GD, Jakobs C, Grompe M, Gibson KM.
Hum Mutat 22(6):442-50. 2003
Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms.
Blasi P, Boyl P, Ledda M, Novelletto A, Gibson K, Jakobs C, Hogema B, Akaboshi S, Loreni F, Malaspina P.
Mol Genet Metab 76(4):348. 2002
Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460T > A of the ALDH5A1 gene.
Aoshima T, Kajita M, Sekido Y, Ishiguro Y, Tsuge I, Kimura M, Yamaguchi S, Watanabe K, Shimokata K, Niwa T.
Hum Hered 53(1):42-4. 2002
Cloning and expression of succinic semialdehyde reductase from human brain. Identity with aflatoxin B1 aldehyde reductase.
Schaller M, Schaffhauser M, Sans N, Wermuth B.
Eur J Biochem 265(3):1056-60 1999
Two-exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).
Chambliss KL, Hinson DD, Trettel F, Malaspina P, Novelletto A, Jakobs C, Gibson KM.
Am J Hum Genet 63 : 399-408. 1998
4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism.
Gibson KM, Hoffmann GF, Hodson AK, Bottiglieri T, Jakobs C.
Neuropediatrics 29(1):14-22. Review. 1998
Construction of a YAC contig covering human chromosome 6p22.
Malaspina P, et al.
Genomics 36 : 399-407. 1996
Molecular cloning of the mature NAD(+)-dependent succinic semialdehyde dehydrogenase from rat and human - cDNA isolation, evolutionary homology, and tissue expression.
Chambliss KL, et al.
J Biol Chem 270 : 461-467. 1995