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this study used a bioinformatics approach to predict its structure. . A homology model for LIAS protein was generated using X-ray crystallographic structure of Thermosynechococcus elogatsu. The active site of LIAS protein was mapped and docked with S-Adenosyl Methionine
oxoglutarate dehydrogenase (OGDH (zeige alphaKGDHC Antikörper)) and lipoic acid synthase (LIAS), which when mutated stabilize HIF1alpha (zeige HIF1A Antikörper) in a non-hydroxylated form.
heterozygous mutations (c.738-2A>G and c.929T>C (p.Met310Thr)) in LIAS.
Patients with LIAS nonketotic hyperglycinemia varied in disease severity and cortical involvement.
We identified the homozygous mutation c.746G>A (p.Arg249His) in LIAS in an individual with neonatal-onset epilepsy, muscular hypotonia, lactic acidosis, and elevated glycine concentration in plasma and urine
Lipoic acid synthetase deficiency results in an overall disturbance in the antioxidant defense network, leading to increased inflammation, insulin (zeige INS Antikörper) resistance, and mitochondrial dysfunction.
Decreased endogenous lipoic acid gene expression plays a role in development of diabetic atherosclerosis in ApoE (zeige APOE Antikörper) deficient mice.
Lias deficiency enhances atherosclerosis in male mice, at least in part due to reduced antioxidant capacity
Development of homozygous embryos lacking Lias is retarded.
Enhanced neutrophil sequestration in the livers of Lias+/- mice was associated with increased hepatocyte injury and increased gene expression of growth-related oncogene (zeige RAB1A Antikörper), E-selectin (zeige SELE Antikörper), and VCAM-1 (zeige VCAM1 Antikörper) in the liver and/or lung.
The protein encoded by this gene belongs to the biotin and lipoic acid synthetases family. It localizes in mitochondrion and plays an important role in alpha-(+)-lipoic acid synthesis. It may also function in the sulfur insertion chemistry in lipoate biosynthesis. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified.
lipoic acid synthetase
, lipoate synthase
, lipoyl synthase, mitochondrial
, lipoic acid synthase
, Lipoate synthase
, Lipoic acid synthase