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A Kir6.2 mutation causing severe functional effects in vitro produces neonatal diabetes without the expected neurological complications.

Abstract:

AIMS/HYPOTHESIS: Heterozygous activating mutations in the pancreatic ATP-sensitive K+ channel cause permanent neonatal diabetes mellitus (PNDM). This results from a decrease in the ability of ATP to close the channel, which thereby suppresses insulin secretion. PNDM mutations that cause a severe reduction in ATP inhibition may produce additional symptoms such as developmental delay and epilepsy. We identified a heterozygous mutation (L164P) in the pore-forming (Kir6.2) subunit of the channel...

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Publication status:
Published

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Publisher copy:
10.1007/s00125-008-0923-1

Authors


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Institution:
University of Oxford
Department:
Oxford, MSD, Pharmacology
Flanagan, SE More by this author
Srinivasan, S More by this author
Woodhead, H More by this author
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Journal:
Diabetologia
Volume:
51
Issue:
5
Pages:
802-810
Publication date:
2008-05-05
DOI:
EISSN:
1432-0428
ISSN:
0012-186X
URN:
uuid:f628d252-3aac-43c6-b8f0-b17f80ccda17
Source identifiers:
113579
Local pid:
pubs:113579

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