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Functional effects of KCNJ11 mutations causing neonatal diabetes: enhanced activation by MgATP.

Abstract:

Recent studies have shown that heterozygous mutations in KCNJ11, which encodes Kir6.2, the pore-forming subunit of the ATP-sensitive potassium (K(ATP)) channel, cause permanent neonatal diabetes either alone (R201C, R201H) or in association with developmental delay, muscle weakness and epilepsy (V59G,V59M). Functional analysis in the absence of Mg2+, to isolate the inhibitory effects of ATP on Kir6.2, showed that both types of mutation reduce channel inhibition by ATP. However, in pancreatic ...

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Publication status:
Published

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Publisher copy:
10.1093/hmg/ddi305

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More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Physiology Anatomy & Genetics
Role:
Author
Journal:
Human molecular genetics More from this journal
Volume:
14
Issue:
18
Pages:
2717-2726
Publication date:
2005-09-01
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
Language:
English
Keywords:
Pubs id:
pubs:113620
UUID:
uuid:0b825df4-f282-404a-b8f4-938fcd6d1e51
Local pid:
pubs:113620
Source identifiers:
113620
Deposit date:
2012-12-19

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