Mutations in the gene encoding cytosolic beta-glucosidase in Gaucher disease.
Los Angeles, United States. In J Lab Clin Med, 2004
Sequence analysis of the gene encoding cytosolic beta-glucosidase (GBA3) from 4 chromosomes revealed the presence of 4 single-nucleotide substitutions: c.316 G -->A (D106N), c.1353A-->G (Y451Y), c.1368T-->A (Y456X), and c.1540 to 1541AG -->T in the 3' untranslated region.
Nutritional Properties and significance of vitamin glycosides.
Gainesville, United States. In Annu Rev Nutr, 1997
Beta-Glucosides of pyridoxine (a) are prevalent in plant-derived foods, (b) contribute to human nutrition as partially available sources of vitamin B6, (c) undergo partial hydrolysis by a novel mammalian cytosolic beta-glucosidase, and (d) exert a weak antagonistic effect on the utilization of free pyridoxine.