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Journal article

Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes.

Abstract:

ATP-sensitive potassium (K(ATP)) channels, composed of pore-forming Kir6.2 and regulatory sulphonylurea receptor (SUR) subunits, play an essential role in insulin secretion from pancreatic beta cells. Binding of ATP to Kir6.2 inhibits, whereas interaction of Mg-nucleotides with SUR, activates the channel. Heterozygous activating mutations in Kir6.2 (KCNJ11) are a common cause of neonatal diabetes (ND). We assessed the functional effects of six novel Kir6.2 mutations associated with ND: H46Y, ...

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Publication status:
Published

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Publisher copy:
10.1007/s00424-006-0112-3

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Journal:
Pflugers Archiv : European journal of physiology
Volume:
453
Issue:
3
Pages:
323-332
Publication date:
2006-12-01
DOI:
EISSN:
1432-2013
ISSN:
0031-6768
Source identifiers:
114081

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