The red blood cell depends solely on the anaerobic conversion of glucose by the Embden-
Meyerhof pathway for the generation and storage of high-energy phosphates, which is …

Purpose.: To identify the cause of retinitis pigmentosa (RP) in UTAD003, a large, six-
generation Louisiana family with autosomal dominant retinitis pigmentosa (adRP). Methods …

Background Hepatic stellate cell (HSC) activation is a central event during hepatic fibrosis.
Aerobic glycolysis is one of its metabolic hallmarks. Blocking glycolysis is a novel …

Abstract Hereditary Motor and Sensory Neuropathy–Russe (HMSNR) is a severe autosomal
recessive disorder, identified in the Gypsy population. Our previous studies mapped the …

Red blood cells (RBCs) express two hexokinase (HK) isoforms, HK-I and HK-R. Both
isozymes are generated from the HK-I gene by use of an alternate promoter. Gene structure …

Abstract Hypoxia-inducible factor 1 (HIF-1) is a transcription factor composed of α and β
subunits. Stabilized from proteasome degradation and activated by hypoxia, HIF-1 …

Abstract The white shrimp Penaeus (Litopenaeus) vannamei is the most cultivated shrimp
worldwide. Compared to other shrimp species, it has higher resistance to adverse …

Hexokinase deficiency is a rare autosomal recessive disease with a clinical phenotype of
severe hemolysis. We report a novel homozygous missense mutation in exon 15 (c. 2039C> …

The epididymal epithelium contributes to formation of a luminal fluid that is essential for the
protection of spermatozoa from a variety of insults including changes in oxygen tension. A …

Background Hexokinase is one of the key enzymes of glycolysis and catalyzes the
phosphorylation of glucose to glucose-6-phosphate. Red blood cell-specific hexokinase is …