[HTML][HTML] Identification and pharmacological correction of a membrane trafficking defect associated with a mutation in the sulfonylurea receptor causing familial …
CJ Partridge, DJ Beech, A Sivaprasadarao - Journal of Biological Chemistry, 2001 - ASBMB
Persistent hyperinsulinemic hypoglycemia of infancy (PHHI) is a genetic disorder
characterized by excess secretion of insulin and hypoglycemia. In most patients, the disease
is caused by mutations in sulfonylurea receptor-1 (SUR1), which, in association with Kir6. 2,
constitutes the functional ATP-sensitive potassium (K ATP) channel of the pancreatic β-cell.
Previous studies reported that coexpression of the PHHI mutant R1394H-SUR1 with Kir6. 2
in COS cells produces no functional channels. To investigate if the loss of function could be …
characterized by excess secretion of insulin and hypoglycemia. In most patients, the disease
is caused by mutations in sulfonylurea receptor-1 (SUR1), which, in association with Kir6. 2,
constitutes the functional ATP-sensitive potassium (K ATP) channel of the pancreatic β-cell.
Previous studies reported that coexpression of the PHHI mutant R1394H-SUR1 with Kir6. 2
in COS cells produces no functional channels. To investigate if the loss of function could be …