TY - JOUR AU - Hedou, G. AU - Chasserot-Golaz, S. AU - Kemmel, V. PY - 2000 DA - 2000// TI - Immunohistochemical studies of the localization of neurons containing the enzyme that synthesizes dopamine, GABA, or gamma-hydroxybutyrate in the rat substantia nigra and striatum JO - J Comp Neurol VL - 426 UR - https://doi.org/3.0.CO;2-Y DO - 3.0.CO;2-Y ID - Hedou2000 ER - TY - JOUR AU - Obata, K. AU - Hirono, M. AU - Kume, N. AU - Kawaguchi, Y. AU - Itohara, S. AU - Yanagawa, Y. PY - 2008 DA - 2008// TI - GABA and synaptic inhibition of mouse cerebellum lacking glutamate decarboxylase 67 JO - Biochem Biophys Res Commun VL - 370 UR - https://doi.org/10.1016/j.bbrc.2008.03.110 DO - 10.1016/j.bbrc.2008.03.110 ID - Obata2008 ER - TY - JOUR AU - Jaeken, J. AU - Casaer, P. AU - de Cock, P. PY - 1984 DA - 1984// TI - Gamma-aminobutyric acid-transaminase deficiency: A newly recognized inborn error of neuro-transmitter metabolism JO - Neuropediatrics VL - 15 UR - https://doi.org/10.1055/s-2008-1052362 DO - 10.1055/s-2008-1052362 ID - Jaeken1984 ER - TY - JOUR AU - Jakobs, C. AU - Bojasch, M. AU - Mönch, E. AU - Rating, D. AU - Siemes, H. AU - Hanefeld, F. PY - 1981 DA - 1981// TI - Urinary excretion of gamma-hydroxybutyric acid in a patient with neurological abnormalities. The probability of a new inborn error of metabolism JO - Clin Chim Acta VL - 111 UR - https://doi.org/10.1016/0009-8981(81)90184-4 DO - 10.1016/0009-8981(81)90184-4 ID - Jakobs1981 ER - TY - JOUR AU - Pearl, P. L. AU - Gibson, K. M. AU - Acosta, M. T. PY - 2003 DA - 2003// TI - Clinical spectrum of succinic semialdehyde dehydrogenase deficiency JO - Neurology VL - 60 UR - https://doi.org/10.1212/01.WNL.0000059549.70717.80 DO - 10.1212/01.WNL.0000059549.70717.80 ID - Pearl2003 ER - TY - JOUR AU - Pearl, P. L. AU - Taylor, J. L. AU - Trzcinski, S. AU - Sokohl, A. PY - 2007 DA - 2007// TI - The pediatric neurotransmitter disorders JO - J Child Neurol VL - 22 UR - https://doi.org/10.1177/0883073807302619 DO - 10.1177/0883073807302619 ID - Pearl2007 ER - TY - JOUR AU - Bray, N. J. AU - Holmans, P. A. AU - van den Bree, M. B. PY - 2008 DA - 2008// TI - Cis- and trans- loci influence expression of the schizophrenia susceptibility gene DTNBP1 JO - Hum Mol Genet VL - 17 UR - https://doi.org/10.1093/hmg/ddn006 DO - 10.1093/hmg/ddn006 ID - Bray2008 ER - TY - JOUR AU - Brkanac, Z. AU - Chapman, N. H. AU - Matsushita, M. M. PY - 2007 DA - 2007// TI - Evaluation of candidate genes for DYX1 and DYX2 in families with dyslexia JO - Am J Med Genet Part B: Neuropsychiatric Genetics VL - 144 UR - https://doi.org/10.1002/ajmg.b.30471 DO - 10.1002/ajmg.b.30471 ID - Brkanac2007 ER - TY - JOUR AU - De Rango, F. AU - Leone, O. AU - Dato, S. PY - 2008 DA - 2008// TI - Cognitive functioning and survival in the elderly: The SSADH C538T polymorphism JO - Ann Hum Genet VL - 72 UR - https://doi.org/10.1111/j.1469-1809.2008.00450.x DO - 10.1111/j.1469-1809.2008.00450.x ID - De Rango2008 ER - TY - JOUR AU - Lorenz, S. AU - Heils, A. AU - Taylor, K. P. PY - 2006 DA - 2006// TI - Candidate gene analysis of the succinic semialdehyde dehydrogenase gene (ALDH5A1) in patients with idiopathic generalized epilepsy and photosensitivity JO - Neurosci Lett VL - 397 UR - https://doi.org/10.1016/j.neulet.2005.12.030 DO - 10.1016/j.neulet.2005.12.030 ID - Lorenz2006 ER - TY - JOUR AU - Murphy, T. C. AU - Amarnath, V. AU - Gibson, K. M. AU - Picklo, M. J. PY - 2003 DA - 2003// TI - Oxidation of 4-hydroxy-2-nonenal by succinic semialdehyde dehydro-genase (ALDH5A1) JO - J Neurochem VL - 86 UR - https://doi.org/10.1046/j.1471-4159.2003.01839.x DO - 10.1046/j.1471-4159.2003.01839.x ID - Murphy2003 ER - TY - JOUR AU - Snead, O. C. AU - Gibson, K. M. PY - 2005 DA - 2005// TI - Gamma-hydroxybutyric acid JO - N Engl J Med VL - 352 UR - https://doi.org/10.1056/NEJMra044047 DO - 10.1056/NEJMra044047 ID - Snead2005 ER - TY - JOUR AU - Liu, Z. AU - Snead, O. C. AU - Vergnes, M. AU - Depaulis, A. AU - Marescaux, C. PY - 1991 DA - 1991// TI - Intrathalamic injections of gamma-hydroxybutyric acid increase genetic absence seizures in rats JO - Neurosci Lett VL - 125 UR - https://doi.org/10.1016/0304-3940(91)90119-E DO - 10.1016/0304-3940(91)90119-E ID - Liu1991 ER - TY - JOUR AU - Cash, C. D. PY - 1994 DA - 1994// TI - Gamma-hydroxybutyrate: An overview of the pros and cons for it being a neurotransmitter and/or a useful therapeutic agent JO - Neurosci Biobehav Rev VL - 18 UR - https://doi.org/10.1016/0149-7634(94)90031-0 DO - 10.1016/0149-7634(94)90031-0 ID - Cash1994 ER - TY - JOUR AU - Maitre, M. PY - 1997 DA - 1997// TI - The gamma-hydroxybutyrate signalling system in brain: Organization and functional implications JO - Prog Neurobiol VL - 51 UR - https://doi.org/10.1016/S0301-0082(96)00064-0 DO - 10.1016/S0301-0082(96)00064-0 ID - Maitre1997 ER - TY - JOUR AU - Snead, O. C. AU - Bearden, L. J. PY - 1980 DA - 1980// TI - Naloxone overcomes the dopaminergic, EEG, and behavioral effects of gamma-hydroxybutyrate JO - Neurology VL - 30 UR - https://doi.org/10.1212/WNL.30.8.832 DO - 10.1212/WNL.30.8.832 ID - Snead1980 ER - TY - JOUR AU - Dyer, J. E. PY - 1991 DA - 1991// TI - Gamma-hydroxybutyrate: A health-food product producing coma and seizure-like activity JO - Am J Emerg Med VL - 9 UR - https://doi.org/10.1016/0735-6757(91)90050-T DO - 10.1016/0735-6757(91)90050-T ID - Dyer1991 ER - TY - JOUR AU - Smith, K. M. PY - 1999 DA - 1999// TI - Drugs used in acquaintance rape JO - J Am Pharm Assoc VL - 39 ID - Smith1999 ER - TY - JOUR PY - 2005 DA - 2005// TI - A double-blind, placebo-controlled study demonstrates sodium oxybate is effective for the treatment of excessive daytime sleepiness in narcolepsy JO - J Clin Sleep Med VL - 15 ID - ref19 ER - TY - JOUR AU - Nava, F. AU - Premi, S. AU - Manzato, E. AU - Campagnola, W. AU - Lucchini, A. AU - Gessa, G. L. PY - 2007 DA - 2007// TI - Gamma-hydroxybutyrate reduces both withdrawal syndrome and hypercortisolism in severe abstinent alcoholics: An open study vs. diazepam JO - Am J Drug Alcohol Abuse VL - 33 UR - https://doi.org/10.1080/00952990701315046 DO - 10.1080/00952990701315046 ID - Nava2007 ER - TY - JOUR AU - Scharf, M. B. AU - Baumann, M. AU - Berkowitz, D. V. PY - 2003 DA - 2003// TI - The effects of sodium oxybate on clinical symptoms and sleep patterns in patients with fibromyalgia JO - J Rheumatol VL - 30 ID - Scharf2003 ER - TY - JOUR AU - Schwartz, T. L. PY - 2007 DA - 2007// TI - Gamma hydroxy butyric acid and sodium oxybate used to treat posttraumatic stress disorder JO - CNS Spectrums VL - 12 ID - Schwartz2007 ER - TY - JOUR AU - Frucht, S. J. AU - Houghton, W. C. AU - Bordelon, Y. AU - Greene, P. E. AU - Louis, E. D. PY - 2005 DA - 2005// TI - A single-blind, open-label trial of sodium oxybate for myo-clonus and essential tremor JO - Neurology VL - 65 UR - https://doi.org/10.1212/01.wnl.0000188670.38576.bd DO - 10.1212/01.wnl.0000188670.38576.bd ID - Frucht2005 ER - TY - JOUR AU - Kaupmann, K. AU - Cryan, J. F. AU - Wellendorph, P. PY - 2003 DA - 2003// TI - Specific gamma-hydroxybutyrate-binding sites but loss of pharmacological effects of gamma-hydroxybutyrate in GABA(B)(1)-deficient mice JO - Eur J Neurosci VL - 18 UR - https://doi.org/10.1111/j.1460-9568.2003.03013.x DO - 10.1111/j.1460-9568.2003.03013.x ID - Kaupmann2003 ER - TY - JOUR AU - Lingenhoehl, K. AU - Brom, R. AU - Heid, J. PY - 1999 DA - 1999// TI - Gamma-hydroxybutyrate is a weak agonist at recombinant GABA(B) receptors JO - Neuropharmacology VL - 38 UR - https://doi.org/10.1016/S0028-3908(99)00131-8 DO - 10.1016/S0028-3908(99)00131-8 ID - Lingenhoehl1999 ER - TY - JOUR AU - Snead, O. C. AU - Liu, C. C. PY - 1984 DA - 1984// TI - Gamma-hydroxybutyric acid binding sites in rat and human brain synaptosomal membranes JO - Biochem Pharmacol VL - 33 UR - https://doi.org/10.1016/0006-2952(84)90629-4 DO - 10.1016/0006-2952(84)90629-4 ID - Snead1984 ER - TY - JOUR AU - Snead, O. C. PY - 1984 DA - 1984// TI - Ontogeny of gamma-hydroxybutyric acid II. Electroencephalographic effects JO - Brain Res VL - 317 UR - https://doi.org/10.1016/0165-3806(84)90143-3 DO - 10.1016/0165-3806(84)90143-3 ID - Snead1984 ER - TY - JOUR AU - Castelli, M. P. AU - Mocci, I. AU - Langlois, X. PY - 2000 DA - 2000// TI - Quantitative autoradiographic distribution of gamma-hydroxybutyric acid binding sites in human and monkey brain JO - Brain Research, Mol Brain Res VL - 78 UR - https://doi.org/10.1016/S0169-328X(00)00078-4 DO - 10.1016/S0169-328X(00)00078-4 ID - Castelli2000 ER - TY - JOUR AU - Gould, G. G. AU - Mehta, A. K. AU - Frazer, A. AU - Ticku, M. K. PY - 2003 DA - 2003// TI - Quantitative autoradiographic analysis of the new radioligand [(3)H](2E)-(5-hydroxy-5,7,8,9-tetrahydro-6H-benzo[a][7]annulen-6-ylidene) ethanoic acid ([(3)H]NCS-382) at gamma-hydroxybutyric acid (GHB) binding sites in rat brain JO - Brain Res VL - 979 UR - https://doi.org/10.1016/S0006-8993(03)02865-8 DO - 10.1016/S0006-8993(03)02865-8 ID - Gould2003 ER - TY - JOUR AU - Murphy, T. C. AU - Poppe, C. AU - Porter, J. E. AU - Montine, T. J. AU - Picklo, M. J. PY - 2004 DA - 2004// TI - 4-Hydroxy-trans-2-nonenoic acid is a gamma-hydroxybutyrate receptor ligand in the cerebral cortex and hippocampus JO - J Neurochem VL - 89 UR - https://doi.org/10.1111/j.1471-4159.2004.02442.x DO - 10.1111/j.1471-4159.2004.02442.x ID - Murphy2004 ER - TY - JOUR AU - Andriamampandry, C. AU - Taleb, O. AU - Viry, S. PY - 2003 DA - 2003// TI - Cloning and characterization of a rat brain receptor that binds the endogenous neuromodulator gamma-hydroxybutyrate (GHB) JO - FASEB J VL - 17 ID - Andriamampandry2003 ER - TY - JOUR AU - Andriamampandry, C. AU - Taleb, O. AU - Kemmel, V. AU - Humbert, J. P. AU - Aunis, D. AU - Maitre, M. PY - 2007 DA - 2007// TI - Cloning and functional characterization of a gamma-hydroxybutyrate receptor identified in the human brain JO - FASEB J VL - 21 UR - https://doi.org/10.1096/fj.06-6509com DO - 10.1096/fj.06-6509com ID - Andriamampandry2007 ER - TY - JOUR AU - Kemmel, V. AU - Miehe, M. AU - Roussel, G. PY - 2006 DA - 2006// TI - Immunohistochemical localization of a GHB receptor-like protein isolated from rat brain JO - J Comp Neurol VL - 498 UR - https://doi.org/10.1002/cne.21072 DO - 10.1002/cne.21072 ID - Kemmel2006 ER - TY - JOUR AU - Snead, O. C. AU - Nichols, A. C. PY - 1987 DA - 1987// TI - Gamma-hydroxybutyric acid binding sites: Evidence for coupling to a chloride anion channel JO - Neuropharmacology VL - 26 UR - https://doi.org/10.1016/0028-3908(87)90173-0 DO - 10.1016/0028-3908(87)90173-0 ID - Snead1987 ER - TY - JOUR AU - Eli, M. AU - Cattabeni, F. PY - 1983 DA - 1983// TI - Endogenous gamma-hydroxybutyrate in rat brain areas: Postmortem changes and effects of drugs interfering with gamma-aminobutyric acid metabolism JO - J Neurochem VL - 41 UR - https://doi.org/10.1111/j.1471-4159.1983.tb04770.x DO - 10.1111/j.1471-4159.1983.tb04770.x ID - Eli1983 ER - TY - JOUR AU - Lyon, R. C. AU - Johnston, S. M. AU - Watson, D. G. AU - McGarvie, G. AU - Ellis, E. M. PY - 2007 DA - 2007// TI - Synthesis and catabolism of gamma-hydroxybutyrate in SH-SY5Y human neuroblastoma cells: Role of the aldo-keto reductase AKR7A2 JO - J Biol Chem VL - 282 UR - https://doi.org/10.1074/jbc.M702465200 DO - 10.1074/jbc.M702465200 ID - Lyon2007 ER - TY - JOUR AU - Picklo, M. J. AU - Olson, S. J. AU - Hayes, J. D. AU - Markesbery, W. R. AU - Montine, T. J. PY - 2001 DA - 2001// TI - Elevation of AKR7A2 (succinic semialdehyde reductase) in neurodegenerative disease JO - Brain Res VL - 916 UR - https://doi.org/10.1016/S0006-8993(01)02897-9 DO - 10.1016/S0006-8993(01)02897-9 ID - Picklo2001 ER - TY - JOUR AU - Ando, N. AU - Gold, B. I. AU - Bird, E. D. AU - Roth, R. H. PY - 1979 DA - 1979// TI - Regional brain levels of gamma-hydroxybutyrate in Huntington's disease JO - J Neurochem VL - 32 UR - https://doi.org/10.1111/j.1471-4159.1979.tb00392.x DO - 10.1111/j.1471-4159.1979.tb00392.x ID - Ando1979 ER - TY - JOUR AU - Ando, N. AU - Simon, J. R. AU - Roth, R. H. PY - 1979 DA - 1979// TI - Inverse relationship between GABA and gamma-hydroxybutyrate levels in striatum of rat injected with kainic acid JO - J Neurochem VL - 32 UR - https://doi.org/10.1111/j.1471-4159.1979.tb00393.x DO - 10.1111/j.1471-4159.1979.tb00393.x ID - Ando1979 ER - TY - JOUR AU - Akaboshi, S. AU - Hogema, B. M. AU - Novelletto, A. PY - 2003 DA - 2003// TI - Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency JO - Hum Mutat VL - 22 UR - https://doi.org/10.1002/humu.10288 DO - 10.1002/humu.10288 ID - Akaboshi2003 ER - TY - JOUR AU - Vasiliou, V. AU - Nebert, D. W. PY - 2005 DA - 2005// TI - Analysis and update of the human aldehyde dehydrogenase (ALDH) gene family JO - Hum Genom VL - 2 ID - Vasiliou2005 ER - TY - JOUR AU - Bekri, S. AU - Fossoud, C. AU - Plaza, G. PY - 2004 DA - 2004// TI - The molecular basis of succinic semialdehyde dehydrogenase deficiency in one family JO - Mol Genet Metab VL - 81 UR - https://doi.org/10.1016/j.ymgme.2004.01.012 DO - 10.1016/j.ymgme.2004.01.012 ID - Bekri2004 ER - TY - JOUR AU - Lemes, A. AU - Blasi, P. AU - Gonzales, G. PY - 2006 DA - 2006// TI - Succinic semialdehyde dehydrogenase (SSADH) deficiency: Molecular analysis in a South American family JO - J Inherit Metab Dis VL - 29 UR - https://doi.org/10.1007/s10545-006-0277-0 DO - 10.1007/s10545-006-0277-0 ID - Lemes2006 ER - TY - JOUR AU - Blasi, P. AU - Palmerio, F. AU - Caldarola, S. PY - 2006 DA - 2006// TI - Succinic semialdehyde dehydrogenase deficiency: Clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation JO - Clin Genet VL - 69 UR - https://doi.org/10.1111/j.1399-0004.2006.00579.x DO - 10.1111/j.1399-0004.2006.00579.x ID - Blasi2006 ER - TY - JOUR AU - Jung, R. AU - Rauch, A. AU - Salomons, G. S. PY - 2006 DA - 2006// TI - Clinical, cytogenetic and molecular characterization of a patient with combined succinic semi-aldehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity JO - Mol Genet Metab VL - 88 UR - https://doi.org/10.1016/j.ymgme.2006.02.003 DO - 10.1016/j.ymgme.2006.02.003 ID - Jung2006 ER - TY - JOUR AU - Knerr, I. AU - Gibson, K. M. AU - Jakobs, C. AU - Pearl, P. L. PY - 2008 DA - 2008// TI - Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase (SSADH) deficiency JO - CNS Spectrums VL - 13 ID - Knerr2008 ER - TY - JOUR AU - Gropman, A. PY - 2003 DA - 2003// TI - Vigabatrin and newer interventions in succinic semialdehyde dehydrogenase deficiency JO - Ann Neurol VL - 54 UR - https://doi.org/10.1002/ana.10626 DO - 10.1002/ana.10626 ID - Gropman2003 ER - TY - JOUR AU - Leuzzi, V. AU - Di Sabato, M. L. AU - Deodato, F. PY - 2007 DA - 2007// TI - Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency JO - Neurology VL - 68 UR - https://doi.org/10.1212/01.wnl.0000259537.54082.6d DO - 10.1212/01.wnl.0000259537.54082.6d ID - Leuzzi2007 ER - TY - JOUR AU - Nylen, K. AU - Velazquez, J. L. AU - Likhodii, S. S. PY - 2008 DA - 2008// TI - A ketogenic diet rescues the murine succinic semialdehyde dehydrogenase deficient phenotype JO - Exp Neurol VL - 210 UR - https://doi.org/10.1016/j.expneurol.2007.11.015 DO - 10.1016/j.expneurol.2007.11.015 ID - Nylen2008 ER - TY - CHAP AU - Saronwala, A. AU - Tournay, A. AU - Gargus, J. J. PY - 2008 DA - 2008// BT - Taurine treatment of succinate semialdehyde dehydrogenase (SSADH) deficiency reverses MRI-documented globus lesion and clinical syndrome PB - American College of Medical Genetics, Annual Meeting, 12-16 March CY - Phoeniz, AZ ID - Saronwala2008 ER - TY - JOUR AU - Gibson, K. M. AU - Gupta, M. AU - Pearl, P. L. PY - 2003 DA - 2003// TI - Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria) JO - Biol Psychiatry VL - 54 UR - https://doi.org/10.1016/S0006-3223(03)00113-6 DO - 10.1016/S0006-3223(03)00113-6 ID - Gibson2003 ER - TY - CHAP AU - Pearl, P. L. AU - Taylor, J. AU - Trzcinski, S. PY - 2007 DA - 2007// BT - 11C - Flumazenil PET imaging in patients with SSADH deficiency PB - American Epilepsy Society CY - Philadelphia, PA ID - Pearl2007 ER - TY - CHAP AU - Reis, J. AU - Cohen, L. G. AU - Pearl, P. L. AU - Gibson, K. M. AU - Dustin, I. AU - Theodore, W. H. PY - 2007 DA - 2007// BT - Transcranial magnetic stimulation reveals altered cortical excitability in succinic semialdehyde dehydrogenase deficiency PB - American Epilepsy Society CY - Philadelphia, PA ID - Reis2007 ER - TY - JOUR AU - Hogema, B. M. AU - Gupta, M. AU - Senephansiri, H. PY - 2001 DA - 2001// TI - Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase JO - Nat Genet VL - 29 UR - https://doi.org/10.1038/ng727 DO - 10.1038/ng727 ID - Hogema2001 ER - TY - JOUR AU - Cortez, M. A. AU - Wu, Y. AU - Gibson, K. M. AU - Snead, O. C. PY - 2004 DA - 2004// TI - Absence seizures in succinic semialdehyde dehydrogenase deficient mice: A model of juvenile absence epilepsy JO - Pharmacol Biochem Behav VL - 79 UR - https://doi.org/10.1016/j.pbb.2004.09.008 DO - 10.1016/j.pbb.2004.09.008 ID - Cortez2004 ER - TY - JOUR AU - Mehta, A. K. AU - Gould, G. G. AU - Gupta, M. AU - Carter, L. P. AU - Gibson, K. M. AU - Ticku, M. K. PY - 2006 DA - 2006// TI - Succinate semialdehyde dehydrogenase deficiency does not down-regulate gamma-hydroxybutyric acid binding sites in the mouse brain JO - Mol Genet Metab VL - 88 UR - https://doi.org/10.1016/j.ymgme.2005.11.012 DO - 10.1016/j.ymgme.2005.11.012 ID - Mehta2006 ER - TY - JOUR AU - Gupta, M. AU - Jansen, E. E. AU - Senephansiri, H. PY - 2004 DA - 2004// TI - Liver-directed adenoviral gene transfer in murine succinate semialdehyde dehydrogenase deficiency JO - Mol Ther VL - 9 UR - https://doi.org/10.1016/j.ymthe.2004.01.013 DO - 10.1016/j.ymthe.2004.01.013 ID - Gupta2004 ER - TY - CHAP AU - Gibson, K. M. AU - Gupta, M. AU - Senephansiri, H. ED - Hoffmann, G. F. PY - 2006 DA - 2006// TI - Oxidant stress and neurodegeneration in murine succinic semialdehyde dehydrogenase (SSADH) deficiency BT - Diseases of Neurotransmission: From Bench to Bed PB - SPS Verlagsgessellschaft mbH, Symposia Proceedings CY - Heilbronn, Germany ID - Gibson2006 ER - TY - JOUR AU - Jansen, E. E. AU - Verhoeven, N. M. AU - Jakobs, C. PY - 2006 DA - 2006// TI - Increased guani-dino species in murine and human succinate semialdehyde dehydrogenase (SSADH) deficiency JO - Biochim Biophys Acta VL - 1762 UR - https://doi.org/10.1016/j.bbadis.2006.01.006 DO - 10.1016/j.bbadis.2006.01.006 ID - Jansen2006 ER - TY - JOUR AU - Jansen, E. E. AU - Gibson, K. M. AU - Shigematsu, Y. AU - Jakobs, C. AU - Verhoeven, N. M. PY - 2006 DA - 2006// TI - A novel, quantitative assay for homocarnosine in cere-brospinal fluid using stable-isotope dilution liquid chromatography-tandem mass spectrometry JO - J Chromatogr B Analyt Technol Biomed Life Sci VL - 830 UR - https://doi.org/10.1016/j.jchromb.2005.10.053 DO - 10.1016/j.jchromb.2005.10.053 ID - Jansen2006 ER - TY - JOUR AU - Struys, E. A. AU - Jansen, E. E. AU - Gibson, K. M. AU - Jakobs, C. PY - 2005 DA - 2005// TI - Determination of the GABA analogue succinic semialdehyde in urine and cerebrospinal fluid by dinitrophenylhydrazine derivatization and liquid chromatography-tandem mass spectrometry: Application to SSADH deficiency JO - J Inherit Metab Dis VL - 28 UR - https://doi.org/10.1007/s10545-005-0111-0 DO - 10.1007/s10545-005-0111-0 ID - Struys2005 ER - TY - JOUR AU - Struys, E. A. AU - Verhoeven, N. M. AU - Jansen, E. E. PY - 2006 DA - 2006// TI - Metabolism of gamma-hydroxybutyrate to d-2-hydroxyglutarate in mammals: Further evidence for d-2-hydroxyglutarate transhydrogenase JO - Metabolism VL - 55 UR - https://doi.org/10.1016/j.metabol.2005.09.009 DO - 10.1016/j.metabol.2005.09.009 ID - Struys2006 ER - TY - JOUR AU - Buzzi, A. AU - Wu, Y. AU - Frantseva, M. V. PY - 2006 DA - 2006// TI - Succinic semialdehyde dehydrogenase deficiency: GABAB receptor-mediated function JO - Brain Res VL - 1090 UR - https://doi.org/10.1016/j.brainres.2006.02.131 DO - 10.1016/j.brainres.2006.02.131 ID - Buzzi2006 ER - TY - JOUR AU - Wu, Y. AU - Buzzi, A. AU - Frantseva, M. PY - 2006 DA - 2006// TI - Status epilepticus in mice deficient for succinate semialdehyde dehydrogenase: GABAA receptor-mediated mechanisms JO - Ann Neurol VL - 59 UR - https://doi.org/10.1002/ana.20686 DO - 10.1002/ana.20686 ID - Wu2006 ER - TY - JOUR AU - Sauer, S. W. AU - Kölker, S. AU - Hoffmann, G. F. PY - 2007 DA - 2007// TI - Enzymatic and metabolic evidence for a region specific mitochondrial dysfunction in brains of murine succinic semialdehyde dehydrogenase deficiency (Aldh5a1-/- mice) JO - Neurochem Int VL - 50 UR - https://doi.org/10.1016/j.neuint.2006.12.009 DO - 10.1016/j.neuint.2006.12.009 ID - Sauer2007 ER - TY - JOUR AU - Dutra-Filho, C. S. AU - Wajner, M. AU - Wannmacher, C. M. PY - 1995 DA - 1995// TI - Inhibition of citrate oxidation in vitro by 2-hydroxybutyrate and 4-hydroxybutyrate in cerebral cortex of young rats JO - Biochem Soc Trans VL - 23 UR - https://doi.org/10.1042/bst023229s DO - 10.1042/bst023229s ID - Dutra-Filho1995 ER - TY - JOUR AU - Dutra-Filho, C. S. AU - Wajner, M. AU - Wannmacher, C. M. PY - 1995 DA - 1995// TI - 2-Hydroxybutyrate and 4-hydroxybutyrate inhibit CO2 formation from labeled substrates by rat cerebral cortex JO - Biochem Soc Trans VL - 23 UR - https://doi.org/10.1042/bst023228s DO - 10.1042/bst023228s ID - Dutra-Filho1995 ER - TY - JOUR AU - Latini, A. AU - Scussiato, K. AU - Leipnitz, G. AU - Gibson, K. M. AU - Wajner, M. PY - 2007 DA - 2007// TI - Evidence for oxidative stress in tissues derived from succinate semialdehyde dehydrogenase-deficient mice JO - J Inherit Metab Dis VL - 30 UR - https://doi.org/10.1007/s10545-007-0599-6 DO - 10.1007/s10545-007-0599-6 ID - Latini2007 ER - TY - JOUR AU - Kaufman, E. E. AU - Nelson, T. AU - Fales, H. M. AU - Levin, D. M. PY - 1988 DA - 1988// TI - Isolation and characterization of a hydroxyacid-oxoacid transhydrogenase from rat kidney mitochondria JO - J Biol Chem VL - 263 ID - Kaufman1988 ER - TY - JOUR AU - Struys, E. A. PY - 2006 DA - 2006// TI - D-2-Hydroxyglutaric aciduria: Unravelling the biochemical pathway and the genetic defect JO - J Inherit Metab Dis VL - 29 UR - https://doi.org/10.1007/s10545-006-0317-9 DO - 10.1007/s10545-006-0317-9 ID - Struys2006 ER - TY - JOUR AU - Reed, T. AU - Perluigi, M. AU - Sultana, R. PY - 2008 DA - 2008// TI - Redox proteomic identification of 4-hydroxy-2-nonenal-modified brain proteins in amnestic mild cognitive impairment: Insight into the role of lipid peroxidation in the progression and pathogenesis of Alzheimer's disease JO - Neurobiol Dis VL - 30 UR - https://doi.org/10.1016/j.nbd.2007.12.007 DO - 10.1016/j.nbd.2007.12.007 ID - Reed2008 ER - TY - JOUR AU - Honzatko, A. AU - Brichac, J. AU - Murphy, T. C. PY - 2005 DA - 2005// TI - Enantioselective metabolism of trans-4-hydroxy-2-nonenal by brain mitochondria JO - Free Radic Biol Med VL - 39 UR - https://doi.org/10.1016/j.freeradbiomed.2005.05.010 DO - 10.1016/j.freeradbiomed.2005.05.010 ID - Honzatko2005 ER - TY - JOUR AU - Meyer, M. J. AU - Mosely, D. M. AU - Picklo, M. J. PY - 2004 DA - 2004// TI - Metabolism of 4-hydroxy-trans-2-nonenal by CNS mitochondria is dependent on age and NAD+ availability JO - Chem Res Toxicol VL - 17 UR - https://doi.org/10.1021/tx049843k DO - 10.1021/tx049843k ID - Meyer2004 ER - TY - JOUR AU - Chambliss, K. L. AU - Hinson, D. D. AU - Trettel, F. PY - 1998 DA - 1998// TI - Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria) JO - Am J Hum Genet VL - 63 UR - https://doi.org/10.1086/301964 DO - 10.1086/301964 ID - Chambliss1998 ER - TY - JOUR AU - Blasi, P. AU - Boyl, P. P. AU - Ledda, M. PY - 2002 DA - 2002// TI - Structure of human succinic semialdehyde dehydrogenase gene: Identification of promoter region and alternatively processed isoforms JO - Mol Genet Metab VL - 76 UR - https://doi.org/10.1016/S1096-7192(02)00105-1 DO - 10.1016/S1096-7192(02)00105-1 ID - Blasi2002 ER - TY - JOUR AU - Chambliss, K. L. AU - Zhang, Y. A. AU - Rossier, E. AU - Vollmer, B. AU - Gibson, K. M. PY - 1995 DA - 1995// TI - Enzymatic and immunologic identification of succinic semialdehyde dehydrogenase in rat and human neural and nonneural tissues JO - J Neurochem VL - 65 UR - https://doi.org/10.1046/j.1471-4159.1995.65020851.x DO - 10.1046/j.1471-4159.1995.65020851.x ID - Chambliss1995 ER - TY - JOUR AU - Gibson, K. M. AU - Lee, C. F. AU - Chambliss, K. L. PY - 1991 DA - 1991// TI - 4-Hydroxybutyric aciduria: Application of a fluorometric assay to the determination of SSA activity in extracts of cultured human lymphoblasts JO - Clin Chim Acta VL - 196 UR - https://doi.org/10.1016/0009-8981(91)90076-O DO - 10.1016/0009-8981(91)90076-O ID - Gibson1991 ER - TY - JOUR AU - Blasi, P. AU - Palmerio, F. AU - Aiello, A. AU - Rocchi, M. AU - Malaspina, P. AU - Novelletto, A. PY - 2006 DA - 2006// TI - SSADH variation in primates: Intra and inter specific data on a gene with a potential role in human cognitive functions JO - J Mol Evol VL - 63 UR - https://doi.org/10.1007/s00239-005-0154-8 DO - 10.1007/s00239-005-0154-8 ID - Blasi2006 ER - TY - JOUR AU - Leone, O. AU - Blasi, P. AU - Palmerio, F. AU - Kozlov, A. I. AU - Malaspina, P. AU - Novelletto, A. PY - 2006 DA - 2006// TI - A human derived SSADH coding variant is replacing the ancestral allele shared with primates JO - Ann Hum Biol VL - 33 UR - https://doi.org/10.1080/03014460601035748 DO - 10.1080/03014460601035748 ID - Leone2006 ER - TY - JOUR AU - Busch, K. B. AU - Fromm, H. PY - 1999 DA - 1999// TI - Plant succinic semialdehyde dehydrogenase. Cloning, purification, localization in mitochondria, and regulation by adenine nucleotides JO - Plant Physiol VL - 21 UR - https://doi.org/10.1104/pp.121.2.589 DO - 10.1104/pp.121.2.589 ID - Busch1999 ER - TY - JOUR AU - Dervent, A. AU - Gibson, K. M. AU - Pearl, P. L. AU - Salomons, G. S. AU - Jakobs, C. AU - Yalcinkaya, C. PY - 2004 DA - 2004// TI - Photosensitive absence epilepsy with myoclonias and heterozygosity for succinic semialdehyde dehydrogenase (SSADH) deficiency JO - Clin Neurophysiol VL - 115 UR - https://doi.org/10.1016/j.clinph.2004.01.002 DO - 10.1016/j.clinph.2004.01.002 ID - Dervent2004 ER - TY - JOUR AU - Plomin, R. AU - Turic, D. M. AU - Hill, L. PY - 2004 DA - 2004// TI - A functional polymorphism in the succinate-semialdehyde dehydrogenase (aldehyde dehydrogenase 5 family, member A1) gene is associated with cognitive ability JO - Mol Psychiatry VL - 9 UR - https://doi.org/10.1038/sj.mp.4001441 DO - 10.1038/sj.mp.4001441 ID - Plomin2004 ER - TY - JOUR AU - Deffenbacher, K. E. AU - Kenyon, J. B. AU - Hoover, D. M. PY - 2004 DA - 2004// TI - Refinement of the 6p21.3 quantitative trait locus influencing dyslexia: Linkage and association analyses JO - Hum Genet VL - 115 UR - https://doi.org/10.1007/s00439-004-1126-6 DO - 10.1007/s00439-004-1126-6 ID - Deffenbacher2004 ER - TY - JOUR AU - Fisher, S. E. AU - DeFries, J. C. PY - 2002 DA - 2002// TI - Developmental dyslexia: Genetic dissection of a complex cognitive trait JO - Nat Rev Neurosci VL - 3 UR - https://doi.org/10.1038/nrn936 DO - 10.1038/nrn936 ID - Fisher2002 ER - TY - JOUR AU - Luciano, M. AU - Lind, P. A. AU - Duffy, D. L. PY - 2007 DA - 2007// TI - A haplotype spanning KIAA0319 and TTRAP is associated with normal variation in reading and spelling ability JO - Biol Psychiatry VL - 62 UR - https://doi.org/10.1016/j.biopsych.2007.03.007 DO - 10.1016/j.biopsych.2007.03.007 ID - Luciano2007 ER - TY - JOUR AU - Cavalleri, G. L. AU - Weale, M. E. AU - Shianna, K. V. PY - 2007 DA - 2007// TI - Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study JO - Lancet Neurol VL - 6 UR - https://doi.org/10.1016/S1474-4422(07)70247-8 DO - 10.1016/S1474-4422(07)70247-8 ID - Cavalleri2007 ER -