Visualitzant per matèria "Enzymes"
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Aberrantly spliced mRNAs of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene with a donor splice-site point mutation produce hereditary HL deficiency
(Journal of Lipid Research, 1996-11)A novel point mutation in the 3-hydroxy-3methyl-glutaryl coenzyme A lyase gene was found in a Turkish patient with homozygous 3-hydroxy-3-methylglutaric acidemia. Amplification by RT-PCR of the mRNA ... -
ADP-ribose–derived nuclear ATP synthesis by NUDIX5 is required for chromatin remodeling
(Science, 2016)Key nuclear processes in eukaryotes, including DNA replication, repair, and gene regulation, require extensive chromatin remodeling catalyzed by energy-consuming enzymes. It remains unclear how the ATP ... -
Carnitine palmitoyltransferase 1C negatively regulates the endocannabinoid hydrolase ABHD6 in mice, depending on nutritional status
(British Journal of Pharmacology, 2021-01)Background and Purpose: The enzyme α/β‐hydrolase domain containing 6 (ABHD6), a new member of the endocannabinoid system, is a promising therapeutic target against neuronal‐related diseases. However, ... -
Detection and expression analysis of tet(B) in streptococcus oralis
(Journal of Oral Microbiology, 2019)Tetracycline resistance can be achieved through tet genes, which code for efflux pumps, ribosomal protection proteins and inactivation enzymes. Some of these genes have only been described in either ... -
Differential HMG‐CoA lyase expression in human tissues provides clues about 3‐hydroxy‐3‐methylglutaric aciduria
(Journal of Inherited Metabolic Disease, 2010)3‐Hydroxy‐3‐methylglutaric aciduria is a rare human autosomal recessive disorder caused by deficiency of 3‐hydroxy‐3‐methylglutaryl CoA lyase (HL). This mitochondrial enzyme catalyzes the common final ... -
Identification of conserved amino acid residues in rat liver carnitine palmitoyltransferase I critical for malonyl-CoA inhibition. Mutation of methionine 593 abolishes malonyl-CoA inhibition
(Journal of Biological Chemistry, 2003-03-14)Carnitine palmitoyltransferase (CPT) I, which catalyzes the conversion of palmitoyl-CoA to palmitoylcarnitine facilitating its transport through the mitochondrial membranes, is inhibited by malonyl-CoA. ... -
Molecular evolution of multiple-level control of heme biosynthesis pathway in animal kingdom
(PLoS One, 2014)Adaptation of enzymes in a metabolic pathway can occur not only through changes in amino acid sequences but also through variations in transcriptional activation, mRNA splicing and mRNA translation. The ... -
Structural (betaalpha) 8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase
(Journal of Biological Chemistry, 2003)This study describes three novel homozygous missense mutations (S75R, S201Y, and D204N) in the 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase gene, which caused 3-hydroxy-3-methylglutaric aciduria in ...