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Journal article

Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms.

Abstract:

ATP-sensitive potassium (K(ATP)) channels regulate insulin secretion from pancreatic beta-cells. Gain-of-function mutations in the genes encoding the Kir6.2 and SUR1 subunits of this channel cause neonatal diabetes. We report two novel mutations on the same haplotype (cis), F60Y and V64L, in the slide helix of Kir6.2 in a patient with neonatal diabetes, developmental delay and epilepsy. Functional analysis revealed the F60Y mutation increases the intrinsic channel open probability (Po(0)), th...

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Publication status:
Published

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Publisher copy:
10.1093/hmg/ddp554

Authors


Männikkö, R More by this author
Jefferies, C More by this author
Flanagan, SE More by this author
Hattersley, A More by this author
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Journal:
Human molecular genetics
Volume:
19
Issue:
6
Pages:
963-972
Publication date:
2010-03-05
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
URN:
uuid:d99d2e20-7765-4716-a117-d37544375e0c
Source identifiers:
113975
Local pid:
pubs:113975

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