Orphanet Journal of Rare Diseases, 2018 Background Clinical outcome of patients with a classical presentation of galactosemia (classical patients) varies substantially, even between patients with the same genotype.
Michel van Weeghel +5 more
doaj +2 more sources
Human Hepatic Uridine Diphosphate Galactose Pyrophosphorylase
Journal of Biological Chemistry, 1969 H D Abraham, R R Howell
openaire +2 more sources
Multienzyme Platform for the Synthesis of UDP Sugars and Human Milk Oligosaccharides. [PDF]
ChembiochemEngineered Escherichia coli produces six enzymes (UMPK, PPK3, GALK, NAHK, GALU, PPA) that are purified and used in a cell‐free cascade to synthesize UDP‐N‐acetylglucosamine (UDP‐GlcNAc) and UDP‐galactose (UDP‐Gal) from inexpensive substrates. The cascades can be coupled with glycosyltransferases for in situ nucleotide sugar regeneration, enabling ...
Hoang TS +6 more
europepmc +2 more sources
Liver Metabolomic Profiling Reveals Distinct Signatures Between Steatosis and Metabolic Dysfunction-Associated Steatohepatitis. [PDF]
Liver IntABSTRACT Background and Aims Metabolic dysfunction‐associated steatotic liver disease (MASLD), the most common chronic liver disease worldwide, is closely linked to obesity and metabolic syndrome. The reason some patients with MASLD develop metabolic dysfunction‐associated steatohepatitis (MASH) and which metabolic changes in the liver are linked to ...
Palomurto S +14 more
europepmc +2 more sources
A Synergistic Inhibitor Development Strategy Against Human UDP-Galactose-4-Epimerase. [PDF]
Angew Chem Int Ed EnglThe epimerase GalE is crucial for the biosynthesis of cancer‐relevant O‐GalNAc glycans. Here, we employ orthogonal, structurally enabled small molecule fragment screens to yield both covalent and non‐covalent inhibitors against GalE within no more than 22 elaborated compounds.
Browne WM +22 more
europepmc +2 more sources
Computer-aided identification of Trypanosoma brucei uridine diphosphate galactose 4'-epimerase inhibitors: toward the development of novel therapies for African sleeping sickness. [PDF]
J Med Chem, 2010 Trypanosoma brucei, the causative agent of human African trypanosomiasis, affects tens of thousands of sub-Saharan Africans. As current therapeutics are inadequate due to toxic side effects, drug resistance, and limited effectiveness, novel therapies are
Durrant JD +3 more
europepmc +2 more sources
Mass Spectrometry Imaging-Assisted Discovery of Gallotannin Biosynthetic Genes in the Root of Paeonia suffruticosa. [PDF]
Adv Sci (Weinh)An integrated approach combining mass spectrometry imaging, transcriptomics, and phylogenetic analysis facilitated the efficient identification of genes involved in gallotannin biosynthesis in Paeonia suffruticosa. As a result, a key UGT and several SCPL acyltransferases responsible for biosynthesizing pentagalloylglucose were successfully identified ...
Liu Y, Duan W, Tang W, Zhao Y, Li B.
europepmc +2 more sources
Zoledronate Derivatives as Potential Inhibitors of Uridine Diphosphate-Galactose Ceramide Galactosyltransferase 8:A Combined Molecular Docking and Dynamic Study [PDF]
, 2016 Krabbe's disease is a neurodegenerative disorder caused by deficiency of galactocerebrosidase activity that affects the myelin sheath of the nervous system, involving dysfunctional metabolism of sphingolipids. It has no cure. Because substrate inhibition
Cardile, Venera +5 more
core +1 more source
Journal of Lipid Research, 1976 An enzyme that transfers galactose from UDP-Gal to ganglioside GM2 (Tay-Sachs ganglioside) was concentrated 50 times in Golgi apparatus from rat liver relative to total homogenates.
F E Wilkinson, D J Morré, T W Keenan
doaj +1 more source
Urinary reducing substances in neonatal intrahepatic cholestasis caused by citrin deficiency
Journal of Pediatric and Neonatal Individualized Medicine, 2014 Neonatal cholestasis due to citrin deficiency is an autosomal recessive metabolic disorder caused by mutations in SLC25A13 gene. Mutations in this gene have a relatively high prevalence in East-Asian races compared to European or Afro-Caribbean races ...
Ajmal Kader +4 more
doaj +1 more source