Annotation of 1350 Common Genetic Variants of the 19 ALDH Multigene Family from Global Human Genome Aggregation Database (gnomAD)
Human aldehyde dehydrogenase (ALDH) is a multigene family with 19 functional members encoding a class of diverse but important enzymes for detoxification or biotransformation of different endogenous…
Is the mechanism of nitroglycerin tolerance associated with aldehyde dehydrogenase activity? A contribution to the ongoing discussion.
- Biology, MedicineActa biochimica Polonica
It is concluded that the nitrate tolerance certainly is not caused by a decrease in the activity of any of the ALDH isoenzymes present in the rat liver, including ALDH2.
An integrative bioinformatics pipeline to demonstrate the alteration of the interaction between the ALDH2*2 allele with NAD+ and Disulfiram
- BiologyJournal of cellular biochemistry
The findings reveal that the interaction of NAD+ to the protein is disturbed by the E504K/E487K variant whereas the drug Disulfiram has a similar effect as both native AL DH2 and ALDH2 bearing E504k/E489K variant.
Clinical, biochemical, and genetic aspects of Sjögren‐Larsson syndrome
- Medicine, BiologyClinical genetics
The clinical characteristics of SLS that have been found to contribute to the prognosis thereof, as well as recent updates from genetic and brain imaging studies are summarized.
Atomic Insight into the Altered O6-Methylguanine-DNA Methyltransferase Protein Architecture in Gastric Cancer
- BiologyPloS one
Gastric cancer patients pooled out from the population were selected for the mutational screening of a specific error prone region of MGMT gene, finding that nearly 40% of the studied neoplastic samples harbored missense mutation at codon151 resulting into Serine to Isoleucine variation.
SHOWING 1-10 OF 213 REFERENCES
Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency
- Biology, ChemistryJournal of Inherited Metabolic Disease
The cDNA structure, and the genomic structure of human MMSDH gene are characterized in order to undertake molecular analysis, providing the first molecular characterization of an inborn error of metabolism specific to the L-valine catabolic pathway.
A missense mutation in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome
- Biology, MedicineEuropean Journal of Human Genetics
In an in vivo assay of flux through this metabolic pathway using dermal fibroblasts obtained from an affected individual, proline and ornithine biosynthetic activity of P5 CS was not affected by the H784Y substitution, suggesting that P5CS may possess additional uncharacterised functions that affect connective tissue and central nervous system function.
I-Mutant2.0: predicting stability changes upon mutation from the protein sequence or structure
- BiologyNucleic Acids Res.
I-Mutant2.0 is introduced as a unique and valuable helper for protein design, even when the protein structure is not yet known with atomic resolution.
Non-P450 aldehyde oxidizing enzymes: the aldehyde dehydrogenase SAPs in ALDH gene superfamily 362 © 1996-2015 superfamily
- Expert Opinion on Drug Metabolism and Toxicology 4(6), 697-720
cDNA Cloning and Expression of a Human Aldehyde Dehydrogenase (ALDH) Active with 9-cis-Retinal and Identification of a Rat Ortholog, ALDH12*
- Biology, MedicineThe Journal of Biological Chemistry
ALDH12 is the first known ALDH to show a preference for 9-cis- retinal relative to all-trans-retinal, and evidence consistent with the possibility that ALDH12 could function in a pathway of 9- cis-retinoic acid biosynthesis in vivo is provided.
Increasing the precision of comparative models with YASARA NOVA—a self‐parameterizing force field
An all‐atom force field aimed at protein and nucleotide optimization in vacuo (NOVA), which has been specifically designed to avoid this problem and can be applied to modeling applications as well as X‐ray and NMR structure refinement.
Role of Human Aldehyde Dehydrogenases in Endobiotic and Xenobiotic Metabolism
- Biology, ChemistryDrug metabolism reviews
The human genome contains at least 17 genes that are members of the aldehyde dehydrogenase (ALDH) superfamily, enzymes that oxidize a wide range of aldehydes to their corresponding carboxylic acids.
Pyridoxal Phosphate De-activation by Pyrroline-5-carboxylic Acid
- ChemistryThe Journal of Biological Chemistry
Pyrroline-5-carboxylic acid is found to be a unique endogenous vitamin antagonist, which may contribute to seizures in hyperprolinemia type II, but they may be preventable with long term vitamin B6supplementation.
The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene.
- BiologyAmerican journal of human genetics
It is demonstrated that SLS is caused by a strikingly heterogeneous group of mutations in the FALDH gene and provides a framework for understanding the genetic basis of SLS and the development of DNA-based diagnostic tests.
Expression and initial characterization of human ALDH3B1.
- BiologyBiochemical and biophysical research communications