Browsing Ciències de la Salut by Subject "Amino acids"
Now showing items 1-4 of 4
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A nucleotide-based drug protects against glutamate- and MPP+ -induced neurotoxicity
(Neuroscience & Medicine, 2011)Nucleo CMP Forte® is a nucleotide-based drug consisting of cytidinemonophosphate, uridinemonophosphate, uridin-ediphosphate and uridinetriphosphate. It has been prescribed for peripheral nervous system ... -
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 ... -
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 ...