Reference on EC 1.2.1.24 - succinate-semialdehyde dehydrogenase (NAD+) and Organism(s) Homo sapiens and UniProt Accession P51649
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AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
Ryzlak, M.T.; Pietruszko, R.
Human brain high Km aldehyde dehydrogenase: purification, characterization, and identification as NAD+-dependent succinic semialdehyde dehydrogenase
Arch. Biochem. Biophys.
266
386-396
1988
Homo sapiens
Cash, C.D.; Maitre, M.; Ossola, L.; Mandel, P.
Purification and properties of two succinate semialdehyde dehydrogenases from human brain
Biochim. Biophys. Acta
524
26-36
1978
Homo sapiens
Chambliss, K.L.; Caudle, D.L.; Hinson, D.D.; Moomaw, C.R.; Slaughter, C.A.; Jakobs, C.; Gibson, K.M.
Molecular cloning of the mature NAD(+)-dependent succinic semialdehyde dehydrogenase from rat and human. cDNA isolation, evolutionary homology, and tissue expression
J. Biol. Chem.
270
461-467
1995
Homo sapiens, Rattus norvegicus
Chambliss, K.L.; Zhang, Y.A.; Rossier, E.; Vollmer, B.; Gibson, K.M.
Enzymatic and immunologic identification of succinic semialdehyde dehydrogenase in rat and human neural and nonneural tissues
J. Neurochem.
65
851-855
1995
Homo sapiens, Rattus norvegicus
Akaboshi, S.; Hogema, B.M.; Novelletto, A.; Malaspina, P.; Salomons, G.S.; Maropoulos, G.D.; Jakobs, C.; Grompe, M.; Gibson, K.M.
Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency
Hum. Mutat.
22
442-450
2003
Homo sapiens (P51649)
Blasi, P.; Boyl, P.P.; Ledda, M.; Novelletto, A.; Gibson, K.M.; Jakobs, C.; Hogema, B.; Akaboshi, S.; Loreni, F.; Malaspina, P.
Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms
Mol. Genet. Metab.
76
348-362
2002
Homo sapiens (Q8N3W7), Homo sapiens
Blasi, P.; Palmerio, F.; Aiello, A.; Rocchi, M.; Malaspina, P.; Novelletto, A.
SSADH variation in primates: intra- and interspecific data on a gene with a potential role in human cognitive functions
J. Mol. Evol.
63
54-68
2006
Gorilla gorilla (Q6A2H1), Homo sapiens, Hylobates lar (Q3MSM3), Pan paniscus (Q3MSM4), Pan paniscus, Pan troglodytes (Q6A2H0), Pan troglodytes, Pongo abelii (Q6A2H2), Pongo pygmaeus pygmaeus (Q6A2H2)
Lorenz, S.; Heils, A.; Taylor, K.P.; Gehrmann, A.; Muhle, H.; Gresch, M.; Becker, T.; Tauer, U.; Stephani, U.; Sander, T.
Candidate gene analysis of the succinic semialdehyde dehydrogenase gene (ALDH5A1) in patients with idiopathic generalized epilepsy and photosensitivity
Neurosci. Lett.
397
234-239
2006
Homo sapiens
Kang, J.H.; Park, Y.B.; Huh, T.L.; Lee, W.H.; Choi, M.S.; Kwon, O.S.
High-level expression and characterization of the recombinant enzyme, and tissue distribution of human succinic semialdehyde dehydrogenase
Protein Expr. Purif.
44
16-22
2005
Homo sapiens
Marchitti, S.A.; Deitrich, R.A.; Vasiliou, V.
Neurotoxicity and metabolism of the catecholamine-derived 3,4-dihydroxyphenylacetaldehyde and 3,4-dihydroxyphenylglycolaldehyde: the role of aldehyde dehydrogenase
Pharmacol. Rev.
59
125-150
2007
Homo sapiens (P51649)
Leone, O.; Blasi, P.; Palmerio, F.; Kozlov, A.I.; Malaspina, P.; Novelletto, A.
A human derived SSADH coding variant is replacing the ancestral allele shared with primates
Ann. Hum. Biol.
33
593-603
2007
Homo sapiens (P51649), Homo sapiens
Knerr, I.; Gibson, K.M.; Jakobs, C.; Pearl, P.L.
Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients
CNS Spectr.
13
598-605
2008
Homo sapiens
Malaspina, P.; Picklo, M.J.; Jakobs, C.; Snead, O.C.; Gibson, K.M.
Comparative genomics of aldehyde dehydrogenase 5a1 (succinate semialdehyde dehydrogenase) and accumulation of gamma-hydroxybutyrate associated with its deficiency
Hum. Genomics
3
106-120
2009
Homo sapiens
Pearl, P.L.; Gibson, K.M.; Cortez, M.A.; Wu, Y.; Carter Snead, O.; Knerr, I.; Forester, K.; Pettiford, J.M.; Jakobs, C.; Theodore, W.H.
Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men
J. Inherit. Metab. Dis.
32
343-352
2009
Homo sapiens, Mus musculus
Kratz, S.V.
Sensory integration intervention: historical concepts, treatment strategies and clinical experiences in three patients with succinic semialdehyde dehydrogenase (SSADH) deficiency
J. Inherit. Metab. Dis.
32
353-360
2009
Homo sapiens
Di Rosa, G.; Malaspina, P.; Blasi, P.; Dionisi-Vici, C.; Rizzo, C.; Tortorella, G.; Crutchfield, S.R.; Gibson, K.M.
Visual evoked potentials in succinate semialdehyde dehydrogenase (SSADH) deficiency
J. Inherit. Metab. Dis.
32
S201-S205
2009
Homo sapiens
Pearl, P.L.; Gibson, K.M.; Quezado, Z.; Dustin, I.; Taylor, J.; Trzcinski, S.; Schreiber, J.; Forester, K.; Reeves-Tyer, P.; Liew, C.; Shamim, S.; Herscovitch, P.; Carson, R.; Butman, J.; Jakobs, C.; Theodore, W.
Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency
Neurology
73
423-429
2009
Homo sapiens
Langendorf, C.G.; Key, T.L.; Fenalti, G.; Kan, W.T.; Buckle, A.M.; Caradoc-Davies, T.; Tuck, K.L.; Law, R.H.; Whisstock, J.C.
The X-ray crystal structure of Escherichia coli succinic semialdehyde dehydrogenase; structural insights into NADP+/enzyme interactions
PLoS One
5
e9280
2010
Homo sapiens (P51649)
Kim, K.J.; Pearl, P.; Jensen, K.; Snead, O.C.; Malaspina, P.; Jakobs, C.; Gibson, K.M.
Succinic semialdehyde dehydrogenase (SSADH): biochemical-molecular-clinical disease mechanisms, redox regulation and functional significance
Antioxid. Redox Signal.
15
691-718
2011
Homo sapiens (P51649), Homo sapiens, Mus musculus
Puettmann, L.; Stehr, H.; Garshasbi, M.; Hu, H.; Kahrizi, K.; Lipkowitz, B.; Jamali, P.; Tzschach, A.; Najmabadi, H.; Ropers, H.H.; Musante, L.; Kuss, A.W.
A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family
Am. J. Med. Genet. A
161A
1915-1922
2013
Homo sapiens (P51649), Homo sapiens
Tamazian, G.; Ho Chang, J.; Knyazev, S.; Stepanov, E.; Kim, K.J.; Porozov, Y.
Modeling conformational redox-switch modulation of human succinic semialdehyde dehydrogenase
Proteins
83
2217-2229
2015
Homo sapiens (P51649)
Hujber, Z.; Horvath, G.; Petoevari, G.; Krencz, I.; Danko, T.; Meszaros, K.; Rajnai, H.; Szoboszlai, N.; Leenders, W.P.J.; Jeney, A.; Tretter, L.; Sebestyen, A.
GABA, glutamine, glutamate oxidation and succinic semialdehyde dehydrogenase expression in human gliomas
J. Exp. Clin. Cancer Res.
37
271
2018
Homo sapiens (P51649)
Menduti, G.; Biamino, E.; Vittorini, R.; Vesco, S.; Puccinelli, M.P.; Porta, F.; Capo, C.; Leo, S.; Ciminelli, B.M.; Iacovelli, F.; Spada, M.; Falconi, M.; Malaspina, P.; Rossi, L.
Succinic semialdehyde dehydrogenase deficiency The combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stability
Mol. Genet. Metab.
124
210-215
2018
Homo sapiens (P51649)
