Gene Review:
ALDH5A1 - aldehyde dehydrogenase 5 family, member A1
Homo sapiens
Synonyms:
Aldehyde dehydrogenase family 5 member A1, NAD(+)-dependent succinic semialdehyde dehydrogenase, SSADH, SSDH, Succinate-semialdehyde dehydrogenase, mitochondrial
- Candidate gene analysis of the succinic semialdehyde dehydrogenase gene (ALDH5A1) in patients with idiopathic generalized epilepsy and photosensitivity. Lorenz, S., Heils, A., Taylor, K.P., Gehrmann, A., Muhle, H., Gresch, M., Becker, T., Tauer, U., Stephani, U., Sander, T. Neurosci. Lett. (2006)
- Vigabatrin and newer interventions in succinic semialdehyde dehydrogenase deficiency. Gropman, A. Ann. Neurol. (2003)
- Clinical aspects of the disorders of GABA metabolism in children. Pearl, P.L., Gibson, K.M. Curr. Opin. Neurol. (2004)
- Seizures in a boy with succinic semialdehyde dehydrogenase deficiency treated with vigabatrin (gamma-vinyl-GABA). Matern, D., Lehnert, W., Gibson, K.M., Korinthenberg, R. J. Inherit. Metab. Dis. (1996)
- A functional polymorphism in the succinate-semialdehyde dehydrogenase (aldehyde dehydrogenase 5 family, member A1) gene is associated with cognitive ability. Plomin, R., Turic, D.M., Hill, L., Turic, D.E., Stephens, M., Williams, J., Owen, M.J., O'Donovan, M.C. Mol. Psychiatry (2004)
- The molecular basis of succinic semialdehyde dehydrogenase deficiency in one family. Bekri, S., Fossoud, C., Plaza, G., Guenne, A., Salomons, G.S., Jakobs, C., Van Obberghen, E. Mol. Genet. Metab. (2004)
- Inherited disorders of neurotransmitters in children and adults. Pearl, P.L., Capp, P.K., Novotny, E.J., Gibson, K.M. Clin. Biochem. (2005)
- Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase. Hogema, B.M., Gupta, M., Senephansiri, H., Burlingame, T.G., Taylor, M., Jakobs, C., Schutgens, R.B., Froestl, W., Snead, O.C., Diaz-Arrastia, R., Bottiglieri, T., Grompe, M., Gibson, K.M. Nat. Genet. (2001)
- Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria). Chambliss, K.L., Hinson, D.D., Trettel, F., Malaspina, P., Novelletto, A., Jakobs, C., Gibson, K.M. Am. J. Hum. Genet. (1998)
- Status epilepticus in mice deficient for succinate semialdehyde dehydrogenase: GABAA receptor-mediated mechanisms. Wu, Y., Buzzi, A., Frantseva, M., Velazquez, J.P., Cortez, M., Liu, C., Shen, L., Gibson, K.M., Snead, O.C. Ann. Neurol. (2006)
- Liver-directed adenoviral gene transfer in murine succinate semialdehyde dehydrogenase deficiency. Gupta, M., Jansen, E.E., Senephansiri, H., Jakobs, C., Snead, O.C., Grompe, M., Gibson, K.M. Mol. Ther. (2004)
- Gamma-hydroxybutyric aciduria: a biochemist's education from a heritable disorder of GABA metabolism. Gibson, K.M. J. Inherit. Metab. Dis. (2005)
- Absence seizures in succinic semialdehyde dehydrogenase deficient mice: a model of juvenile absence epilepsy. Cortez, M.A., Wu, Y., Gibson, K.M., Snead, O.C. Pharmacol. Biochem. Behav. (2004)
- 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. (2002)
- 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, B.M., Novelletto, A., Malaspina, P., Salomons, G.S., Maropoulos, G.D., Jakobs, C., Grompe, M., Gibson, K.M. Hum. Mutat. (2003)
- Molecular cloning of the mature NAD(+)-dependent succinic semialdehyde dehydrogenase from rat and human. cDNA isolation, evolutionary homology, and tissue expression. Chambliss, K.L., Caudle, D.L., Hinson, D.D., Moomaw, C.R., Slaughter, C.A., Jakobs, C., Gibson, K.M. J. Biol. Chem. (1995)
- Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms. Blasi, P., Boyl, P.P., Ledda, M., Novelletto, A., Gibson, K.M., Jakobs, C., Hogema, B., Akaboshi, S., Loreni, F., Malaspina, P. Mol. Genet. Metab. (2002)
- Gastrodin decreases immunoreactivities of gamma-aminobutyric acid shunt enzymes in the hippocampus of seizure-sensitive gerbils. An, S.J., Park, S.K., Hwang, I.K., Choi, S.Y., Kim, S.K., Kwon, O.S., Jung, S.J., Baek, N.I., Lee, H.Y., Won, M.H., Kang, T.C. J. Neurosci. Res. (2003)
- gamma-Aminobutyric acid (GABA) metabolism in mammalian neural and nonneural tissues. Tillakaratne, N.J., Medina-Kauwe, L., Gibson, K.M. Comp. Biochem. Physiol. A Physiol. (1995)
- Monitoring of 4-hydroxybutyric acid levels in body fluids during vigabatrin treatment in succinic semialdehyde dehydrogenase deficiency. Ergezinger, K., Jeschke, R., Frauendienst-Egger, G., Korall, H., Gibson, K.M., Schuster, V.H. Ann. Neurol. (2003)
- Spatial and temporal alterations in the GABA shunt in the gerbil hippocampus following transient ischemia. Kang, T.C., Park, S.K., Hwang, I.K., An, S.J., Choi, S.Y., Cho, S.W., Won, M.H. Brain Res. (2002)
- 4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency. Medina-Kauwe, L.K., Tobin, A.J., De Meirleir, L., Jaeken, J., Jakobs, C., Nyhan, W.L., Gibson, K.M. J. Inherit. Metab. Dis. (1999)
- Therapeutic intervention in mice deficient for succinate semialdehyde dehydrogenase (gamma-hydroxybutyric aciduria). Gupta, M., Greven, R., Jansen, E.E., Jakobs, C., Hogema, B.M., Froestl, W., Snead, O.C., Bartels, H., Grompe, M., Gibson, K.M. J. Pharmacol. Exp. Ther. (2002)
- Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity. Jung, R., Rauch, A., Salomons, G.S., Verhoeven, N.M., Jakobs, C., Michael Gibson, K., Lachmann, E., Sass, J.O., Trautmann, U., Zweier, C., Staatz, G., Knerr, I. Mol. Genet. Metab. (2006)
- Physical mapping of two histone gene clusters on human chromosome 6p22.1-22.2. Volz, A., Albig, W., Doenecke, D., Ziegler, A. DNA Seq. (1997)