gamma-Aminobutyric Acid

⇄

aldehyde dehydrogenase 5 family member A1 ; Homo sapiens







45 Article(s)
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1 34896003 Intestinal Dysbiosis as a component of pathophysiology in succinic semialdehyde dehydrogenase deficiency (SSADHD). 2022 Jan 1
2 33319393 Gene expression analysis in epileptic hippocampi reveals a promoter haplotype conferring reduced aldehyde dehydrogenase 5a1 expression and responsiveness. 2021 Jan 1
3 33624531 Enzyme Replacement Therapy for Succinic Semialdehyde Dehydrogenase Deficiency: Relevance in γ-Aminobutyric Acid Plasticity. 2021 Nov 5
4 32402538 Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency. 2020 Jul 3
5 32575506 SSADH Variants Increase Susceptibility of U87 Cells to Mitochondrial Pro-Oxidant Insult. 2020 Jun 19 6
6 32621952 Bi-allelic Mutations in ALDH5A1 is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability. 2020 Jul 1 2
7 32887425 A Missense Variant in ALDH5A1 Associated with Canine Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) in the Saluki Dog. 2020 Sep 2 2
8 31117962 Clinical diagnosis and mutation analysis of four Chinese families with succinic semialdehyde dehydrogenase deficiency. 2019 May 22 3
9 31267348 Novel mutations in two unrelated Italian patients with SSADH deficiency. 2019 Oct 2
10 30404651 GABA, glutamine, glutamate oxidation and succinic semialdehyde dehydrogenase expression in human gliomas. 2018 Nov 7 4
11 26617286 Hypoxia and GABA shunt activation in the pathogenesis of Alzheimer's disease. 2016 Jan 3
12 25558043 Inherited disorders of gamma-aminobutyric acid metabolism and advances in ALDH5A1 mutation identification. 2015 Jul 4
13 26422261 Modeling conformational redox-switch modulation of human succinic semialdehyde dehydrogenase. 2015 Dec 4
14 24230997 ALDH5A1 variability in opioid dependent patients could influence response to methadone treatment. 2014 Mar 2
15 24327614 Suggestive association with ocular phoria at chromosome 6p22. 2014 Jan 20 2
16 25485164 Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies. 2014 Nov 25 1
17 21438145 Familial 6p22.2 duplication associates with mild developmental delay and increased SSADH activity. 2011 Jun 7
18 22082659 Promoter variants determine γ-aminobutyric acid homeostasis-related gene transcription in human epileptic hippocampi. 2011 Dec 2
19 19896403 Sleep disorders in succinic semialdehyde dehydrogenase deficiency: a family report. 2010 May 1
20 20060383 Crystal structure of non-redox regulated SSADH from Escherichia coli. 2010 Jan 29 1
21 20174634 The X-ray crystal structure of Escherichia coli succinic semialdehyde dehydrogenase; structural insights into NADP+/enzyme interactions. 2010 Feb 18 3
22 20570675 Plasticity of postsynaptic, but not presynaptic, GABAB receptors in SSADH deficient mice. 2010 Sep 3
23 19164088 Comparative genomics of aldehyde dehydrogenase 5a1 (succinate semialdehyde dehydrogenase) and accumulation of gamma-hydroxybutyrate associated with its deficiency. 2009 Jan 6
24 19300440 Redox-switch modulation of human SSADH by dynamic catalytic loop. 2009 Apr 8 2
25 19667317 Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency. 2009 Aug 11 2
26 18030617 Time course of changes in immunoreactivities of GABA degradation enzymes in the hippocampal CA1 region after adrenalectomy in gerbils. 2008 May 2
27 18252249 Functional characterization of a Drosophila melanogaster succinic semialdehyde dehydrogenase and a non-specific aldehyde dehydrogenase. 2008 Mar 2
28 18588919 Succinic semialdehyde dehydrogenase from the parasitic cattle tick Rhipicephalus microplus: gene identification, biochemical characterization and comparison with the mouse ortholog. 2008 Sep 2
29 19040727 Neurotransmitter alterations in embryonic succinate semialdehyde dehydrogenase (SSADH) deficiency suggest a heightened excitatory state during development. 2008 Nov 28 1
30 16406321 Candidate gene analysis of the succinic semialdehyde dehydrogenase gene (ALDH5A1) in patients with idiopathic generalized epilepsy and photosensitivity. 2006 Apr 24 2
31 16504488 Increased guanidino species in murine and human succinate semialdehyde dehydrogenase (SSADH) deficiency. 2006 Apr 6
32 16647690 Succinic semialdehyde dehydrogenase deficiency: GABAB receptor-mediated function. 2006 May 23 2
33 15853764 The GABA shunt: an attractive and potential therapeutic target in the treatment of epileptic disorders. 2005 Apr 4
34 16298354 Inherited disorders of neurotransmitters in children and adults. 2005 Dec 2
35 12743223 Clinical spectrum of succinic semialdehyde dehydrogenase deficiency. 2003 May 13 2
36 12891656 Vigabatrin and newer interventions in succinic semialdehyde dehydrogenase deficiency. 2003 1
37 14635103 Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency. 2003 Dec 3
38 12208142 Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms. 2002 Aug 4
39 11243727 Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses. 2001 Mar 2
40 11544478 Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase. 2001 Oct 4
41 10517851 Plant succinic semialdehyde dehydrogenase. Cloning, purification, localization in mitochondria, and regulation by adenine nucleotides. 1999 Oct 3
42 7584821 gamma-Aminobutyric acid (GABA) metabolism in mammalian neural and nonneural tissues. 1995 Oct 4
43 3080855 Valproate and myoclonus. 1986 3
44 6452931 [Mechanism of action of an anticonvulsant, sodium dipropylacetate]. 1981 2
45 390993 GABA transaminase inhibitors. 1979 1