Glucose-6-phosphate isomerase deficiency

W Kugler, M Lakomek - Best Practice & Research Clinical Haematology, 2000 - Elsevier
Most of the metabolic needs of erythrocytes are covered by glycolysis, the oxidative pentose
phosphate pathway and the glutathione cycle. Hereditary enzyme deficiencies of all these …

Niche-selective inhibition of pathogenic Th17 cells by targeting metabolic redundancy

L Wu, KER Hollinshead, Y Hao, C Au, L Kroehling… - Cell, 2020 - cell.com
Targeting glycolysis has been considered therapeutically intractable owing to its essential
housekeeping role. However, the context-dependent requirement for individual glycolytic …

The molecular basis of disorders of red cell enzymes.

MF McMullin - Journal of clinical pathology, 1999 - ncbi.nlm.nih.gov
The mature red cell has no nucleus or organelles and therefore cannot synthesise pro-tein
or lipids. It is totally dependent on glycolysis to convert glucose into an energy source …

The crystal structure of human phosphoglucose isomerase at 1.6 Å resolution: implications for catalytic mechanism, cytokine activity and haemolytic anaemia

J Read, J Pearce, X Li, H Muirhead, J Chirgwin… - Journal of molecular …, 2001 - Elsevier
Phosphoglucose isomerase (PGI) is a multifunctional protein, which, inside the cell,
functions as a housekeeping enzyme of glycolysis and gluconeogenesis and, outside the …

Phosphohexose isomerase/autocrine motility factor/neuroleukin/maturation factor is a multifunctional phosphoprotein

A Haga, Y Niinaka, A Raz - Biochimica et Biophysica Acta (BBA)-Protein …, 2000 - Elsevier
Phosphohexose isomerase (PHI) is a member of the ectoenzyme/exoenzyme family and
plays a key role in both glycolysis and gluconeogenesis pathways. Upon secretion PHI acts …

Clinical and molecular spectrum of glucose-6-phosphate isomerase deficiency. Report of 12 new cases

E Fermo, C Vercellati, AP Marcello, A Zaninoni… - Frontiers in …, 2019 - frontiersin.org
Glucose-6-phosphate isomerase (GPI, EC 5.3. 1.9) is a dimeric enzyme that catalyzes the
reversible isomerization of glucose-6-phosphate to fructose-6-phosphate, the second …

Two novel mutations (p.(Ser160Pro) and p.(Arg472Cys)) causing glucose-6-phosphate isomerase deficiency are associated with erythroid dysplasia and …

R Mojzikova, P Koralkova, D Holub, Z Saxova… - Blood Cells, Molecules …, 2018 - Elsevier
Abstract Glucose-6-phosphate isomerase (GPI) deficiency, a genetic disorder responsible
for chronic nonspherocytic hemolytic anemia, is the second most common red blood cell …

Erythrocyte pyruvate kinase deficiency mutation identified in multiple breeds of domestic cats

RA Grahn, JC Grahn, MCT Penedo, CR Helps… - BMC veterinary …, 2012 - Springer
Background Erythrocyte pyruvate kinase deficiency (PK deficiency) is an inherited hemolytic
anemia that has been documented in the Abyssinian and Somali breeds as well as random …

Effects of inherited mutations on catalytic activity and structural stability of human glucose-6-phosphate isomerase expressed in Escherichia coli

HY Lin, YH Kao, ST Chen, M Meng - … et Biophysica Acta (BBA)-Proteins and …, 2009 - Elsevier
Glucose-6-phosphate isomerase (GPI), a homodimeric enzyme, catalyzes the
interconversion between glucose-6-phosphate and fructose-6-phosphate. In mammals, it …

[PDF][PDF] Clinical and molecular spectrum of glucose-6-phosphate isomerase deficiency

E Fermo, C Vercellati, AP Marcello, A Zaninoni, S Aytac… - Report of, 2019 - academia.edu
Glucose-6-phosphate isomerase (GPI, EC 5.3. 1.9) is a dimeric enzyme that catalyzes the
reversible isomerization of glucose-6-phosphate to fructose-6-phosphate, the second …