A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome.

Míreanna comhchosúla

• Molecular basis of Kir6.2 mutations causing neonatal diabetes and neonatal diabetes with neurological features
  de réir: Proks, P, et al.
  Foilsithe / Cruthaithe: (2005)
• Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features.
  de réir: Proks, P, et al.
  Foilsithe / Cruthaithe: (2004)
• Focus on Kir6.2: a key component of the ATP-sensitive potassium channel.
  de réir: Haider, S, et al.
  Foilsithe / Cruthaithe: (2005)
• Functional analysis of a structural model of the ATP-binding site of the KATP channel Kir6.2 subunit.
  de réir: Antcliff, J, et al.
  Foilsithe / Cruthaithe: (2005)
• Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism.
  de réir: Shimomura, K, et al.
  Foilsithe / Cruthaithe: (2009)