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Keywords: glycogen storage disease
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Articles
Silvia SENESI, Paola MARCOLONGO, Tamas KARDON, Giovanna BUCCI, Andrey SUKHODUB, Ann BURCHELL, Angelo BENEDETTI, Rosella FULCERI
Journal:
Biochemical Journal
Biochem J (2005) 389 (1): 57–62.
Published: 21 June 2005
... that is situated in the lumen of the hepatic endoplasmic reticulum. The genetic deficiency of the glucose 6-phosphate transport activity causes a severe metabolic disease termed type 1b glycogen storage disease. The cDNA encoding a liver transporter for glucose 6-phosphate was cloned and was found to be mutated...
Articles
Journal:
Biochemical Journal
Biochem J (2002) 362 (3): 513–532.
Published: 08 March 2002
... have been cloned and shown to be mutated in glycogen storage disease type Ia and type Ib respectively. The gene encoding a G6Pase-related protein, expressed specifically in pancreatic islets, has also been cloned. Specific potent inhibitors of G6Pase and of the glucose 6-phosphate translocase have been...
