Results 21 to 30 of about 3,915 (172)

Age-Dependent Metabolomic Signatures of Dietary Restriction in Mice. [PDF]

Aging Cell
Elevated hepatic glutathione (GSH) and 3‐hydroxybutyrate (3‐HB) levels in all ages of mice demonstrate an enhanced protection against oxidative stress and improvement in energy metabolism during chronic dietary restriction (DR). However, high protein or muscle degradation in liver of young mice, and large accumulation of hepatic glycogen and excessive ...
Lee JS, Arachchige VHJH, Kim EH, Bang E, Hong YS.   +4 more
europepmc   +2 more sources

GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction

Platelets, 2023
GALE gene encodes the uridine diphosphate [UDP]-galactose-4-epimerase, which catalyzes the bidirectional interconversion of UDP-glucose to UDP-galactose, and UDP-N-acetyl-glucosamine to UDP-N-acetyl-galactosamine.
Ana Marín-Quílez, Christian A. Di Buduo, Rocío Benito, Alessandra Balduini, José Rivera, Jose Maria Bastida   +5 more
doaj   +1 more source

Carbon source–dependent capsule thickness regulation in Streptococcus pneumoniae

Frontiers in Cellular and Infection Microbiology, 2023
BackgroundThe polysaccharide capsule of Streptococcus pneumoniae plays a major role in virulence, adherence to epithelial cells, and overall survival of the bacterium in the human host.
Joel P. Werren, Joel P. Werren, Nadja Mostacci, Ilche Gjuroski, Lalaina Holivololona, Lukas J. Troxler, Lucy J. Hathaway, Julien Furrer, Markus Hilty   +8 more
doaj   +1 more source

Identification of a carbohydrate recognition motif of purinergic receptors

eLife, 2023
As a major class of biomolecules, carbohydrates play indispensable roles in various biological processes. However, it remains largely unknown how carbohydrates directly modulate important drug targets, such as G-protein coupled receptors (GPCRs).
Lifen Zhao, Fangyu Wei, Xinheng He, Antao Dai, Dehua Yang, Hualiang Jiang, Liuqing Wen, Xi Cheng   +7 more
doaj   +1 more source

SLC35A2-CDG: Novel variant and review

Molecular Genetics and Metabolism Reports, 2021
SLC35A2 encodes the X-linked transporter that carries uridine diphosphate (UDP)-galactose from the cytosol to the lumen of the Golgi apparatus and the endoplasmic reticulum.
Dulce Quelhas, Joana Correia, Jaak Jaeken, Luísa Azevedo, Mónica Lopes-Marques, Anabela Bandeira, Liesbeth Keldermans, Gert Matthijs, Luisa Sturiale, Esmeralda Martins   +9 more
doaj   +1 more source

Formation of Galactose-1-Phosphate from Uridine Diphosphate Galactose in Erythrocytes from Patients with Galactosemia[31] [PDF]

Pediatric Research, 1969
R Gitzelmann
openalex   +2 more sources

The Intermediate in the Uridine Diphosphate Galactose 4-Epimerase Reaction

Journal of Biological Chemistry, 1973
Utpalendu S. Maitra, Helmut Ankel
openalex   +2 more sources

CDG due to Defective Membrane Transporters: Update. [PDF]

J Inherit Metab Dis
ABSTRACT Congenital disorders of glycosylation are genetic defects in the glycoprotein and glycolipid glycan assembly and attachment. Some 200 CDG have been reported since the first clinical description in 1980. Most CDG are enzymatic deficiencies, but 13 (6.5%) are defects in the ER, Golgi apparatus (GA), and plasma membrane transporters.
Quelhas D, Ferreira CR, Jaeken J.
europepmc   +2 more sources

Profiling of intracellular metabolites produced from galactose and its potential for galactosemia research

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, Lindsey Welling, Eileen P. Treacy, Ronald J. A. Wanders, Sacha Ferdinandusse, Annet M. Bosch   +5 more
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, Christina Ong, Veena Logarajah, Kong Boo Phua, Ee Shien Tan   +4 more
doaj   +1 more source