| 1 | ALDH5A1, SSADH
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| Redox-switch modulation of human SSADH by dynamic catalytic loop.
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| Kim YG, Lee S, Kwon OS, Park SY, Lee SJ, Park BJ, Kim KJ.
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| EMBO J 28(7):959-68. Epub 2009 Mar 19. 2009
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| 2 | ALDH5A1, SSADH
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| Cognitive functioning and survival in the elderly: the SSADH C538T polymorphism.
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| De Rango F, Leone O, Dato S, Novelletto A, Bruni AC, Berardelli M, Mari V, Feraco E, Passarino G, De Benedictis G.
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| Ann Hum Genet 72(Pt 5):630-5. Epub 2008 May 23.
2008
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| 3 | ALDH5A1, SSADH
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| 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.
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| Knerr I, Pearl PL, Bottiglieri T, Snead OC, Jakobs C, Gibson KM.
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| J Inherit Metab Dis 30(3):279-94. Epub 2007 Apr 24.
2007
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| 4 | ALDH5A1, SSADH
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| Succinic semialdehyde dehydrogenase deficiency: clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation.
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| Blasi P, Palmerio F, Caldarola S, Rizzo C, Carrozzo R, Gibson KM, Novelletto A, Deodato F, Cappa M, Dioni-Vici C, Malaspina P.
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| Clin Genet 69(3):294-6. No abstract available. 2006
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| 5 | ALDH5A1
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| SSADH variation in primates: intra- and interspecific data on a gene with a potential role in human cognitive functions.
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| Blasi P, Palmerio F, Aiello A, Rocchi M, Malaspina P, Novelletto A.
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| J Mol Evol 63(1):54-68. Epub 2006 Jun 17. 2006
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| 6 | ALDH5A1, SSADH
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| Increased guanidino species in murine and human succinate semialdehyde dehydrogenase (SSADH) deficiency.
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| Jansen EE, Verhoeven NM, Jakobs C, Schulze A, Senephansiri H, Gupta M, Snead OC, Gibson KM.
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| Biochim Biophys Acta 1762(4):494-8. Epub 2006 Feb 10. 2006
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| 7 | ALDH5A1, SSADH
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| Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency.
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| Akaboshi S, Hogema BM, Novelletto A, Malaspina P, Salomons GS, Maropoulos GD, Jakobs C, Grompe M, Gibson KM.
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| Hum Mutat 22(6):442-50. 2003
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| 8 | ALDH5A1
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| Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms.
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| Blasi P, Boyl P, Ledda M, Novelletto A, Gibson K, Jakobs C, Hogema B, Akaboshi S, Loreni F, Malaspina P.
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| Mol Genet Metab 76(4):348. 2002
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| 9 | ALDH5A1, SSADH
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| Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460T > A of the ALDH5A1 gene.
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| Aoshima T, Kajita M, Sekido Y, Ishiguro Y, Tsuge I, Kimura M, Yamaguchi S, Watanabe K, Shimokata K, Niwa T.
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| Hum Hered 53(1):42-4. 2002
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| 10 | ALDH5A1
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| Cloning and expression of succinic semialdehyde reductase from human brain. Identity with aflatoxin B1 aldehyde reductase.
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| Schaller M, Schaffhauser M, Sans N, Wermuth B.
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| Eur J Biochem 265(3):1056-60 1999
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| 11 | ALDH5A1, SSADH
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| Two-exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).
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| Chambliss KL, Hinson DD, Trettel F, Malaspina P, Novelletto A, Jakobs C, Gibson KM.
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| Am J Hum Genet 63 : 399-408. 1998
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| 12 | ALDH5A1, SSADH
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| 4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism.
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| Gibson KM, Hoffmann GF, Hodson AK, Bottiglieri T, Jakobs C.
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| Neuropediatrics 29(1):14-22. Review. 1998
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| 13 | ALDH5A1
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| Construction of a YAC contig covering human chromosome 6p22.
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| Malaspina P, et al.
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| Genomics 36 : 399-407. 1996
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| 14 | ALDH5A1
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| Molecular cloning of the mature NAD(+)-dependent succinic semialdehyde dehydrogenase from rat and human - cDNA isolation, evolutionary homology, and tissue expression.
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| Chambliss KL, et al.
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| J Biol Chem 270 : 461-467. 1995
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