Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy.
Closure of ATP-sensitive K(+) channels (K(ATP) channels) in response to metabolically generated ATP or binding of sulfonylurea drugs stimulates insulin release from pancreatic beta-cells. Heterozygous gain-of-function mutations in the KCJN11 gene encoding the Kir6.2 subunit of this channel are found...
Main Authors: | Hattersley, A, Ashcroft, F |
---|---|
Format: | Journal article |
Language: | English |
Published: |
2005
|
Similar Items
-
Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2-SUR1 interactions.
by: Tammaro, P, et al.
Published: (2005) -
Molecular basis of Kir6.2 mutations causing neonatal diabetes and neonatal diabetes with neurological features
by: Proks, P, et al.
Published: (2005) -
Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features.
by: Proks, P, et al.
Published: (2004) -
Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms.
by: Männikkö, R, et al.
Published: (2010) -
Permanent neonatal diabetes caused by an in-frame deletion in the N-terminus of Kir6.2
by: Craig, T, et al.
Published: (2008)