Ontology highlight
ABSTRACT:
SUBMITTER: Clark RH
PROVIDER: S-EPMC5890903 | biostudies-literature | 2010 Jul
REPOSITORIES: biostudies-literature
Clark Rebecca H RH McTaggart James S JS Webster Richard R Mannikko Roope R Iberl Michaela M Sim Xiu Li XL Rorsman Patrik P Glitsch Maike M Beeson David D Ashcroft Frances M FM
Science (New York, N.Y.) 20100701 5990
Gain-of-function mutations in Kir6.2 (KCNJ11), the pore-forming subunit of the adenosine triphosphate (ATP)-sensitive potassium (KATP) channel, cause neonatal diabetes. Many patients also suffer from hypotonia (weak and flaccid muscles) and balance problems. The diabetes arises from suppressed insulin secretion by overactive KATP channels in pancreatic beta-cells, but the source of the motor phenotype is unknown. By using mice carrying a human Kir6.2 mutation (Val59-->Met59) targeted to either m ...[more]