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Nitisinone causes acquired tyrosinosis in alkaptonuria.
J Inherit Metab Dis
September 2020
Department of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospitals Trust, Liverpool, UK.
For over two decades, nitisinone (NTBC) has been successfully used to manipulate the tyrosine degradation pathway and save the lives of many children with hereditary tyrosinaemia type 1. More recently, NTBC has been used to halt homogentisic acid accumulation in alkaptonuria (AKU) with evidence suggesting its efficacy as a disease modifying agent. NTBC-induced hypertyrosinaemia has been associated with cognitive impairment and potentially sight-threatening keratopathy.
View Article and Find Full Text PDFSurpassingly competitive electromagnetic field enhancement at the silica/silver interface for selective intracellular surface enhanced Raman scattering detection.
ACS Nano
March 2015
Max-Planck Institute of Colloids and Interfaces, Department of Interfaces, D14476 Potsdam, Germany.
A thin plasmonic nanofilm is formed by preformed silver nanoparticles (30 nm) in the matrix of poly(vinyl alcohol) adsorbed on silica microparticles (1.5 μm) (SiO2@Ag-PVA). By applying finite element method (FEM) analysis the surface enhanced Raman spectroscopy (SERS) enhancement factors (EFs) can reach 10(5) with higher values from 10(9) to 10(11) in the silver layer of 5 nm thickness.
View Article and Find Full Text PDFThe dual face of endogenous alpha-aminoketones: pro-oxidizing metabolic weapons.
Comp Biochem Physiol C Toxicol Pharmacol
October 2007
Departamento de Bioquímica, Instituto de Química, Universidade de São Paulo, Av. Prof. Lineu Prestes 748, 05508-900, São Paulo, SP, Brazil.
Amino metabolites with potential prooxidant properties, particularly alpha-aminocarbonyls, are the focus of this review. Among them we emphasize 5-aminolevulinic acid (a heme precursor formed from succinyl-CoA and glycine), aminoacetone (a threonine and glycine metabolite), and hexosamines and hexosimines, formed by Schiff condensation of hexoses with basic amino acid residues of proteins. All these metabolites were shown, in vitro, to undergo enolization and subsequent aerobic oxidation, yielding oxyradicals and highly cyto- and genotoxic alpha-oxoaldehydes.
View Article and Find Full Text PDFDNA alkylation by 4,5-dioxovaleric acid, the final oxidation product of 5-aminolevulinic acid.
Chem Res Toxicol
February 1998
Département de Recherche Fondamentale sur la Matière Condensée, SCIB Laboratoire Lésions des Acides Nucléiques, CEA, Grenoble, France.
The heme precursor 5-aminolevulinic acid (ALA) accumulates under pathological conditions, namely, acute intermittent porphyria (AIP) and tyrosinosis, two diseases that are associated with increased liver cancer incidence. This has been previously linked to an enhanced production of reactive oxygen species generated by a metal-catalyzed ALA oxidation process, which was shown to cause DNA single-strand breaks and guanine oxidation within both isolated and cellular DNA. In the present work, we established that the final oxidation product of ALA, 4,5-dioxovaleric acid (DOVA), is an efficient alkylating agent of the guanine moieties within both nucleoside and isolated DNA.
View Article and Find Full Text PDFOxidative stress in acute intermittent porphyria and lead poisoning may be triggered by 5-aminolevulinic acid.
Braz J Med Biol Res
July 1996
Departamento de Bioquímica, Universidade de São Paulo, Brasil.
Highly reactive oxyradicals can be generated in vitro by iron-catalyzed aerobic oxidation of synthetic and naturally occurring substances capable of enolization in aqueous medium. Of biological interest are alpha-hydroxy- and alpha-aminocarbonyls such as carbohydrates, 5-aminolevulinic acid, and aminoacetone which tautomerize to the corresponding enediols and enolamines and yield oxyradicals initiated by electron transfer to dioxygen. Free radicals have been implicated in several normal and pathological processes.
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