ArticleAmerican journal of human genetics2000
Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers.
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Who cites it
51 citing papers in PubMed, 116 citations in OpenAlex.
- Aminoadipate-semialdehyde synthase, a potential target for substrate reduction therapy in glutaric aciduria type 1.Scientific reports · 2026Article
- Classical and Emerging Biomarkers in Pyridoxine-Dependent Epilepsy (PDE-ALDH7A1): Implications for Early Diagnosis and Therapeutic Development.Biomolecules · 2026Review
- Integrative analysis of mitochondrial and immune pathways in diabetic kidney disease: identification of AASS and CASP3 as key predictors and therapeutic targets.Renal failure · 2025Article
- Multi-omics profiling reveals downregulated tumor lysine metabolism reshaping the immune microenvironment and therapeutic responses in hepatocellular carcinoma.Journal of translational medicine · 2025Article
- Targeting Lysine α-Ketoglutarate Reductase to Treat Pyridoxine-Dependent Epilepsy.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Article
- Exploring glomeruli and renal tubules transcriptomic data: Crucial role of the AASS gene in membranous nephropathy.Clinical and translational medicine · 2025Article
- Effects of rumen-protected lysine on antler growth performance, fecal bacterial community, and blood gene expression in sika deer.Frontiers in veterinary science · 2025Article
- Characterising the urinary acylcarnitine and amino acid profiles of HIV/TB co-infection, using LC-MS metabolomics.Metabolomics : Official journal of the Metabolomic Society · 2024Article
- LKRSDH-dependent histone modifications of insulin-like peptide sites contribute to age-related circadian rhythm changes.Nature communications · 2024Article
- Engineered probiotic cocktail with two cascade metabolicFrontiers in microbiology · 2024Article
- A case of hyperlysinemia identified by urine newborn screening.JIMD reports · 2023Article
- Integrated Metabolome and Transcriptome Analyses Reveal Amino Acid Biosynthesis Mechanisms during the Physiological Maturity of Grains in Yunnan Hulled Wheat (International journal of molecular sciences · 2023Article
- Article
- Amino acid substitutions in specific proteins correlate with farnesol unresponsiveness in Candida albicans.BMC genomics · 2023Article
- Gene expressions between obligate bamboo-eating pandas and non-herbivorous mammals reveal converged specialized bamboo diet adaptation.BMC genomics · 2023Article
- Mouse models of NADK2 deficiency analyzed for metabolic and gene expression changes to elucidate pathophysiology.Human molecular genetics · 2022Article
- Perspective: Might Maternal Dietary Monosodium Glutamate (MSG) Consumption Impact Pre- and Peri-Implantation Embryos and Their Subsequent Development?International journal of environmental research and public health · 2022Article
- Characterization and structure of the human lysine-2-oxoglutarate reductase domain, a novel therapeutic target for treatment of glutaric aciduria type 1.Open biology · 2022Article
- Amino Acids in Rice Grains and Their Regulation by Polyamines and Phytohormones.Plants (Basel, Switzerland) · 2022Review
- The Metabolite Saccharopine Impairs Neuronal Development by Inhibiting the Neurotrophic Function of Glucose-6-Phosphate Isomerase.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2022Article
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
The first two steps in the mammalian lysine-degradation pathway are catalyzed by lysine-ketoglutarate reductase and saccharopine dehydrogenase, respectively, resulting in the conversion of lysine to alpha-aminoadipic semialdehyde. Defects in one or both of these activities result in familial hyperlysinemia, an autosomal recessive condition characterized by hyperlysinemia, lysinuria, and variable saccharopinuria. In yeast, lysine-ketoglutarate reductase and saccharopine dehydrogenase are encoded by the LYS1 and LYS9 genes, respectively, and we searched the available sequence databases for their human homologues. We identified a single cDNA that encoded an apparently bifunctional protein, with the N-terminal half similar to that of yeast LYS1 and with the C-terminal half similar to that of yeast LYS9. This bifunctional protein has previously been referred to as "alpha-aminoadipic semialdehyde synthase," and we have tentatively designated this gene "AASS." The AASS cDNA contains an open reading frame of 2,781 bp predicted to encode a 927-amino-acid-long protein. The gene has been sequenced and contains 24 exons scattered over 68 kb and maps to chromosome 7q31.3. Northern blot analysis revealed the presence of several transcripts in all tissues examined, with the highest expression occurring in the liver. We sequenced the genomic DNA from a single patient with hyperlysinemia (JJa). The patient is the product of a consanguineous mating and is homozygous for an out-of-frame 9-bp deletion in exon 15, which results in a premature stop codon at position 534 of the protein. On the basis of these and other results, we propose that AASS catalyzes the first two steps of the major lysine-degradation pathway in human cells and that inactivating mutations in the AASS gene are a cause of hyperlysinemia.
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