Article
G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction.
Glycobiology - 1 Jul 2011
Hayee Bu'hussain, Antonopoulos Aristotelis, Murphy Emma J, Rahman Farooq Z, Sewell Gavin, Smith Bradley N, McCartney Sara, Furman Mark, Hall Georgina, Bloom Stuart L, Haslam Stuart M, Morris Howard R, Boztug Kaan, Klein Christoph, Winchester Bryan, Pick Edgar, Linch David C, Gale Rosemary E, Smith Andrew M, Dell Anne, Segal Anthony W
Abstract excerpt
Glucose-6-phosphatase, an enzyme localized in the endoplasmic reticulum (ER), catalyzes the hydrolysis of glucose-6-phosphate (G6P) to glucose and inorganic phosphate. In humans, there are three differentially expressed glucose-6-phosphatase catabolic genes (G6PC1-3). Recently, it has been shown...
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