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Neonatal diabetes caused by homozygous KCNJ11 mutation demonstrates that tiny changes in ATP sensititvity markedly affect diabetes risk

Abstract:

Aims/hypothesis The pancreatic ATP-sensitive potassium (KATP) channel plays a pivotal role in linking beta cell metabolism to insulin secretion. Mutations in KATP channel genes can result in hypo- or hypersecretion of insulin, as in neonatal diabetes mellitus and congenital hyperinsulinism, respectively. To date, all patients affected by neonatal diabetes due to a mutation in the pore-forming subunit of the channel (Kir6.2, KCNJ11) are heterozygous for the mutation. Here, we repor...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1007/s00125-016-3964-x

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Institution:
University of Oxford
Department:
Oxford, MSD, Physiology Anatomy and Genetics
Role:
Author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Physiology Anatomy and Genetics
Role:
Author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Physiology Anatomy and Genetics
Role:
Author
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Royal Society More from this funder
Publisher:
Springer International Publishing AG Publisher's website
Journal:
Diabetologia Journal website
Volume:
59
Issue:
7
Pages:
1430–1436
DOI:
EISSN:
1432-0428
ISSN:
0012-186X
URN:
uuid:05143c98-661b-46ed-9d2f-71c529dddea5
Source identifiers:
613095
Local pid:
pubs:613095
Paper number:
7

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