BMC Pediatrics, 2002 Background The objective of this study was to document the clinical, laboratory and genetic features of galactosemia in patients from the Cape Town metropolitan region.
Brown Ruth +3 more
doaj +1 more source
Diagnostics of Autoimmune Hepatitis Enabled by Non-Invasive Clinical Proteomics. [PDF]
Aliment Pharmacol TherMass‐spectrometry‐based proteomic analyses of paired liver‐plasma samples from patients with AIH enabled discovery of numerous proteins showing high diagnostic accuracy. Proteomics may constitute a novel non‐invasive diagnostic tool for AIH if validated in larger, age‐ and sex‐matched cohorts.
Jensen AH +20 more
europepmc +2 more sources
Regulation of the galactose pathway in Saccharomyces cerevisiae: induction of uridyl transferase mRNA and dependency on GAL4 gene function [PDF]
, 1978 In Saccharomyces cerevisiae, utilization of galactose requires four inducible enzyme activities. Three of these activities (galactose-1-phosphate uridyl transferase, EC 2.7.7.10; uridine diphosphogalactose 4-epimerase, EC 5.1.3.2; and galactokinase, EC 2.
Broach, J. R. +2 more
core +2 more sources
Structure, substrate recognition and reactivity of Leishmania major mevalonate kinase [PDF]
, 2007 This research was supported by the German Academic Exchange Service (DAAD), the Wellcome Trust (TKS and WNH as Trust Senior Research fellows), the Biotechnology and Biological Science Research Council (Structural Proteomics of Rational Targets) and the ...
Hunter, William N. +2 more
core +2 more sources
Biogenic amines at a low level of evolution: Production, functions and regulation in the unicellular Tetrahymena [PDF]
, 2015 The unicellular eukaryote Tetrahymena synthesize, store and secrete biogenic amines (histamine, serotonin, epinephrine, dopamine, melatonin) and also can take up amines from the milieu.
Csaba, György
core +1 more source
A novel c.-22T>C mutation in
BMC Medical Genetics, 2009 Background Many genetic variations of GALK1 have been identified in the patients with galactokinase (GALK1) deficiency. However, the molecular characteristics of GALK1 in individuals with elevated GALK1 activity are relatively unknown.
Kim Jin Q +5 more
doaj +1 more source
The unfolded protein response has a protective role in yeast models of classic galactosemia
Disease Models & Mechanisms, 2014 Classic galactosemia is a human autosomal recessive disorder caused by mutations in the GALT gene (GAL7 in yeast), which encodes the enzyme galactose-1-phosphate uridyltransferase.
Evandro A. De-Souza +6 more
doaj +1 more source
Phosphorylation Mechanism of Phosphomevalonate Kinase: Implications for Rational Engineering of Isoprenoid Biosynthetic Pathway Enzymes [PDF]
, 2016 The mevalonate pathway is of important clinical, pharmaceutical, and biotechnological relevance. However, lack of the understanding of the phosphorylation mechanism of the kinases in this pathway has limited rationally engineering the kinases in industry.
Hu, Guixiiang +6 more
core +4 more sources
Species interactions differ in their genetic robustness [PDF]
, 2015 Conflict and cooperation between bacterial species drive the composition and function of microbial communities. Stability of these emergent properties will be influenced by the degree to which species' interactions are robust to genetic perturbations. We
Chubiz, Lon M. +3 more
core +2 more sources
Sugar recognition by human galactokinase [PDF]
BMC Biochemistry, 2003 Galactokinase catalyses the first committed step of galactose catabolism in which the sugar is phosphorylated at the expense of MgATP. Recent structural studies suggest that the enzyme makes several contacts with galactose--five side chain and two main chain hydrogen bonds.
Timson, David J., Reece, Richard J.
openaire +5 more sources