[HTML][HTML] Identification of a familial hyperinsulinism-causing mutation in the sulfonylurea receptor 1 that prevents normal trafficking and function of KATP channels
G Taschenberger, A Mougey, S Shen, LB Lester… - Journal of Biological …, 2002 - ASBMB
Mutations in the pancreatic ATP-sensitive potassium (K ATP) channel subunits sulfonylurea
receptor 1 (SUR1) and the inwardly rectifying potassium channel Kir6. 2 cause persistent
hyperinsulinemic hypoglycemia of infancy. We have identified a SUR1 mutation, L1544P, in
a patient with the disease. Channels formed by co-transfection of Kir6. 2 and the mutant
SUR1 in COS cells have reduced response to MgADP (∼ 10% that of the wild-type
channels) and reduced surface expression (∼ 19% that of the wild-type channels) …
receptor 1 (SUR1) and the inwardly rectifying potassium channel Kir6. 2 cause persistent
hyperinsulinemic hypoglycemia of infancy. We have identified a SUR1 mutation, L1544P, in
a patient with the disease. Channels formed by co-transfection of Kir6. 2 and the mutant
SUR1 in COS cells have reduced response to MgADP (∼ 10% that of the wild-type
channels) and reduced surface expression (∼ 19% that of the wild-type channels) …