Recombinant Human Alpha-aminoadipic semialdehyde dehydrogenase (ALDH7A1)

1. By using mass spectrometry techniques, we further explored the metabolic effect of aldh7a1 knockout. Impaired lysine degradation with accumulation of PDE biomarkers, B6 deficiency, and low gamma-aminobutyric acid levels were observed in the aldh7a1(-/-) larvae, which may play a significant role in the seizure phenotype and PDE pathogenesis. PMID: 29061647
2. Mutations in the ALDH7A1 gene encoding alpha-amino-adipic semialdehyde (alpha-AASA) dehydrogenase (antiquitin) have been identified as the cause of PDE. We report on a novel ALDH7A1 mutation in a Tunisian child with PDE. PMID: 28131559
3. Wild-type ALDH7A1 is shown to exist in a dimer-tetramer equilibrium with a dissociation constant of 16 muM. In contrast to the wild-type enzyme, the variants reside in monomer-dimer equilibria and are apparently incapable of forming a tetrameric species, even at high enzyme concentration. PMID: 28087462
4. results suggest that the C-terminus of ALDH7A1 is crucial for the maintenance of both the oligomeric state and the catalytic activity. PMID: 29045138
5. We present the clinical and molecular genetic findings of two patients with c.1597_1597delG mutations in ALDH7A1 gene. PMID: 27186704
6. Direct sequencing of the ALDH7A1 gene revealed one novel (c.297delG, p.Trp99*) and two already reported (c.328C>T, p.Arg110*; c.584A>G, p.Asn195Ser) mutations PMID: 26232297
7. This study found five novel mutations of ALDH7A1 gene in pyridoxin dependent epilepsy. PMID: 26555630
8. Binding to ALDH7A1 is associated with movement of the C-terminus into the active site which stabilizes the substrate anchor loop. PMID: 26260980
9. Using a custom array, study identified heterozygous intragenic deletions in the ALDH7A1 gene in 5 of 6 patients with pyridoxine-dependent epilepsy and positive biomarkers who had only a single mutation identified by conventional sequence analysis PMID: 26224730
10. our study indicated that the ALDH7A1 rs13182402 polymorphism was associated with risk of ESCC in Chinese populations. PMID: 25213698
11. Clinical diagnosis, treatment, and ALDH7A1 mutations in pyridoxine-dependent epilepsy in three Chinese infants PMID: 24664145
12. Antiquitin is expressed within glial cells in the brain and its dysfunction in pyridoxine-dependent epilepsy is associated with neuronal migration abnormalities. PMID: 24122892
13. Pyridoxine dependent epilepsy (PDE) is caused by mutations in the ALDH7A1 gene (PDE-ALDH7A1) encoding alpha-aminoadipic semialdehyde dehydrogenase (alpha-AASAD) enzyme in the lysine catabolic pathway PMID: 23683770
14. For patients with NSCLC, low ALDH7A1 expression was associated with a decreased incidence of cancer recurrence. PMID: 23647301
15. A novel missense mutation c.1364T>C (p.Leu455Pro)was detected in in two unrelated Tunisian families with pyridoxine-dependent epilepsy. PMID: 23054014
16. molecular analysis of seven Pyridoxine-dependent epilepsy Tunisian patients revealed a common missense c.1364T>C mutation in the ALDH7A1 gene; the conservation of a single genotype within the c.1364T > C mutation suggested that this variation has a single origin PMID: 23376216
17. Ongoing diagnostic screening and monitoring revealed that in some individuals with milder ALDH7A1 variants. PMID: 22249334
18. The effects of a series of twelve disease-associated ALDH7A1 missense mutations on antiquitin activity, were characterized. PMID: 22784480
19. Atypical pyridoxine-dependent epilepsy is due to a pseudoexon in ALDH7A1. PMID: 22305855
20. The aldehyde dehydrogenase enzyme 7A1 is functionally involved in prostate cancer bone metastasis. PMID: 21647815
21. the structural basis for the substrate specificity PMID: 21185811
22. ALDH7A1 mechanistically appears to provide cells protection through multiple pathways PMID: 21338592
23. Report the genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1. PMID: 20814824
24. The antiquitin 1 oxidation could result in decreased pyridoxal 5-phosphate availability necessary as a cofactor in transaminations, synthesis of glutathione, and synthesis of GABA and dopamine, two neurotransmitters that play a key role in HD pathology. PMID: 20639122
25. KCNQ and AP3S1, but not MAN2A1 or ALDH7A1 have a role in risk of type 2 diabetes in the Chinese Northern Han population PMID: 20512086
26. ALDH7A1 is a novel aldehyde dehydrogenase expressed in multiple subcellular compartments that protects against hyperosmotic stress by generating osmolytes and metabolizing toxic aldehydes PMID: 20207735
27. A SNP, rs13182402, within the ALDH7A1 gene was strongly associated with osteoporosis. PMID: 20072603
28. antiquitin was present not only in the cytosol but also in the mitochondria. PMID: 19885858
29. Children with pyridoxine-dependent seizures (PDS) have mutations in the ALDH7A1 gene, which encodes antiquitin; these mutations abolish the activity of antiquitin as a delta1-piperideine-6-carboxylate (P6C)-alpha-aminoadipic semialdehyde dehydrogenase. PMID: 16491085
30. allelic and non-allelic heterogeneities of pyridoxine dependent seizures, and cerebrospinal fluid glutamate elevation does not directly correlate with the presence of ALDH7A1 mutations. PMID: 17433748
31. report of 2 unrelated patients affected with pyridoxine-dependent seizures as a result of alpha-aminoadipic semialdehyde dehydrogenase deficiency caused by pathogenic ALDH7A1 mutations; 2 of the 3 mutations are novel & result in erroneous splicing PMID: 18717709
32. The diagnosis of pyridoxine-dependent seizures was confirmed with biochemical and molecular testing revealing elevated alpha-AASA excretion and the presence of 2 different mutations in the antiquitin ( ALDH7A1) gene. PMID: 18854520
33. From this study suggested that defects of ALDH7A1 are almost always the cause of neonatal-onset pyridoxine-dependent seizure and that defects in this gene are also responsible for some but not all later-onset cases. PMID: 19128417
34. In this study both patients in epilepsy reported here had increased CSF alpha-AASA, CSF pipecolic acid, and known or likely pathogenic mutations in the ALDH7A1 gene, consistent with alpha-AASA dehydrogenase deficiency. PMID: 19142996
35. Molecular analysis of the antiquitin gene revealed a novel missense mutation c.57insA, while the mutation of the other allele remained unidentified so far. PMID: 19294602

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HGNC: 877

OMIM: 107323

KEGG: hsa:501

STRING: 9606.ENSP00000387123

UniGene: Hs.483239