Gene Ontology annotation through association of InterPro records with GO terms
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
Annotation inferences using phylogenetic trees
Gene Ontology annotation based on curation of immunofluorescence data
Combined Automated Annotation using Multiple IEA Methods
Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms.
Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency.
Proton MR spectroscopy in succinic semialdehyde dehydrogenase deficiency.
High-level expression and characterization of the recombinant enzyme, and tissue distribution of human succinic semialdehyde dehydrogenase.
Redox-switch modulation of human SSADH by dynamic catalytic loop.
Phosphoproteome analysis of functional mitochondria isolated from resting human muscle reveals extensive phosphorylation of inner membrane protein complexes and enzymes.
Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context.
Molecular cloning of the mature NAD(+)-dependent succinic semialdehyde dehydrogenase from rat and human. cDNA isolation, evolutionary homology, and tissue expression.
Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).
ALDH5A1 dehydrogenates SUCCSA to SUCCA
UniProtKB P51649 (SSDH_HUMAN), Succinate-semialdehyde dehydrogenase, mitochondrial
Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase.
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Aldh5a1-deficient mice accumulate GABA/GHB and display severe neurological phenotypes; this is mouse donor-pathway evidence rather than a direct human catalytic assay.
"We observed increased amounts of GHB and total GABA in urine, brain and liver homogenates and detected significant gliosis in the hippocampus of Aldh5a1-/- mice."
Altered cerebral glucose and acetate metabolism in succinic semialdehyde dehydrogenase-deficient mice: evidence for glial dysfunction and reduced glutamate/glutamine cycling.
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Cortical isotope/metabolite measurements in SSADH-deficient mice support altered glutamate/glutamine pathway physiology, without measuring enzyme cofactor specificity.
"Our findings indicate that SSADH deficiency is associated with major alterations in glutamate and glutamine metabolism in glia and neurons with surprisingly lesser effects on GABA synthesis."
Therapeutic intervention in mice deficient for succinate semialdehyde dehydrogenase (gamma-hydroxybutyric aciduria).
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In treated SSADH-deficient mice, high-dose vigabatrin increases brain GABA without a parallel fall in GHB; the abstract does not describe a succinate-flux assay.
"Whereas high-dose VGB led to the expected elevation of brain GABA, we found no parallel decrease in GHB levels."
Integrated analysis of protein composition, tissue diversity, and gene regulation in mouse mitochondria.