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
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
Gene Ontology annotation based on curation of immunofluorescence data
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Automatic Gene Ontology annotation based on Rhea mapping
Combined Automated Annotation using Multiple IEA Methods
Mutations in antiquitin in individuals with pyridoxine-dependent seizures.
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The ALDH7A1 mutations studied in this paper abolish the measured AASA/P6C dehydrogenase activity; accumulating P6C inactivates PLP through adduct formation.
"these mutations abolish the activity of antiquitin as a delta1-piperideine-6-carboxylate (P6C)-alpha-aminoadipic semialdehyde (alpha-AASA) dehydrogenase"
Aldehyde dehydrogenase 7A1 (ALDH7A1) is a novel enzyme involved in cellular defense against hyperosmotic stress.
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Purified recombinant human ALDH7A1 metabolizes AASA, betaine aldehyde and other aldehydes. The paper contains human-protein localization experiments as well as separate mouse tissue studies.
"including the osmolyte precursor, betaine aldehyde, lipid peroxidation-derived aldehydes, and the intermediate lysine degradation product, alpha-aminoadipic semialdehyde."
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).
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Antiquitin catalyses the NAD-dependent dehydrogenation of L-alpha-aminoadipic semialdehyde/P6C; ALDH7A1 deficiency causes the phenotypic spectrum of PDE.
"antiquitin, an enzyme that catalyses the nicotinamide adenine dinucleotide-dependent dehydrogenation of"
Aldehyde dehydrogenase 7A1 (ALDH7A1) attenuates reactive aldehyde and oxidative stress induced cytotoxicity.
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ALDH7A1 protects cells against LPO-derived aldehydes (hexanal, 4-HNE) and oxidative stress and metabolises 4-HNE, in addition to its lysine-catabolic role.
"provides significant protection against treatment with the LPO-derived aldehydes hexanal and 4-hydroxy-2-nonenal (4HNE)"
Toward an understanding of the protein interaction network of the human liver.
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Large-scale human liver yeast-two-hybrid interactome; source of the non-specific ALDH7A1 protein-binding (EPS8) interaction.
"establish a human liver protein interaction network (HLPN) composed of 3484 interactions among 2582 proteins"
In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
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The study characterizes EPS-urine exosome-enriched preparations by shotgun proteomics; the seeded ALDH7A1 target hit remains to be checked in Supplemental Table 2.
"exosome preparations were characterized by a shotgun proteomics procedure"
Structural and biochemical consequences of pyridoxine-dependent epilepsy mutations that target the aldehyde binding site of aldehyde dehydrogenase ALDH7A1.
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PDE mutations in the aldehyde-binding site (e.g. A171V) reduce catalytic efficiency up to 2000-fold, confirming the specific AASA-dehydrogenase activity.
"A171V has a profound functional defect, with catalytic efficiency 2000-times lower than wild-type."
ALDH7A1 inhibits the intracellular transport pathways during hypoxia and starvation to promote cellular energy homeostasis.
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NADH generated by ALDH7A1 targets BARS to inhibit COPI vesicle fission, broadly inhibiting intracellular transport to reduce energy consumption during hypoxia and starvation.
"it acts to reduce energy consumption during hypoxia and starvation to promote cellular energy homeostasis"
Structural analysis of pathogenic mutations targeting Glu427 of ALDH7A1, the hot spot residue of pyridoxine-dependent epilepsy.
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Glu427 mutations (the PDE hot spot) abolish catalytic activity by preventing correct NAD+ nicotinamide positioning, confirming the NAD+-dependent AASA-dehydrogenase activity.
"The recombinant enzymes displayed negligible catalytic activity compared to the wild-type enzyme."
Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context.
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The paper establishes the human MitoCoP resource underlying the seeded HTP location; an ALDH7A1-specific supplementary hit was not independently read.
"mitochondrial high-confidence proteome of >1,100 proteins (MitoCoP)"
Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine-dependent epilepsy.
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Human ALDH7A1-deficient neural progenitor cells accumulate PA and AASA/P6C under lysine-containing culture conditions.
"Quantitative analysis showed accumulation of PA and AASA/P6C in the antiquitin‐deficient NPC colonies but not in control cells"
Biochemical, structural, and computational analyses of two new clinically identified missense mutations of ALDH7A1.
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Novel PDE variants R134S and R441C reduce catalytic efficiency 10,000- and 50-fold; R134S is defective in the active-tetramer assembly.
"R134S and R441C have 10,000- and 50-fold lower catalytic efficiency than wild-type ALDH7A1, respectively."
ALDH7A1 protects against ferroptosis by generating membrane NADH and regulating FSP1.
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ALDH7A1 generates a membrane pool of NADH supporting AIFM2/FSP1 and directly consumes reactive aldehydes to decrease lipid peroxidation, suppressing ferroptosis; AMPK drives its membrane recruitment.
"ALDH7A1 activity also acts directly to decrease lipid peroxidation by consuming reactive aldehydes."
An ancient conserved gene expressed in the human inner ear: identification, expression analysis, and chromosomal mapping of human and mouse antiquitin (ATQ1).
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The accessible abstract reports human fetal cochlear and tissue expression, with rat outer-hair-cell transcripts; the exact basis for a sensory-perception process assertion remains unresolved without the full article.
"We constructed and screened a human fetal cochlear cDNA library to identify genes involved in hearing and deafness."
ALDH7A1 oxidises BETALD to BET
alpha-aminoadipoate semialdehyde + NAD+ => alpha-aminoadipate + NADH + H+
Utility and limitations of EEG in the diagnosis and management of ALDH7A1-related pyridoxine-dependent epilepsy. A retrospective observational study.
Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening.
Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy.
Case report: Early (molecular) diagnosis is the clue: report on ALDH7A1 deficiency in newborns.
Case report: Clinical and genetic characterization of a novel ALDH7A1 variant causing pyridoxine-dependent epilepsy, developmental delay, and intellectual disability in two siblings.
New Therapeutic Approaches to Inherited Metabolic Pediatric Epilepsies.
Non-P450 aldehyde oxidizing enzymes: the aldehyde dehydrogenase superfamily.
Precision diagnosis and treatment of vitamin metabolism-related epilepsy.
Impact of missense mutations in the ALDH7A1 gene on enzyme structure and catalytic function.