Abstract:
:The pancreatic ATP-sensitive potassium channels comprise two subunits: SUR1 and Kir6.2. Two SUR1 mutations, A116P and V187D, reduce channel activity causing persistent hyperinsulinemic hypoglycemia of infancy. We investigated whether these mutations cause temperature sensitive misfolding. We show that the processing defect of these mutants is temperature sensitive and these two mutations disrupt the association between SUR1 and Kir6.2 by causing misfolding in SUR1 at 37 degrees C but can be rescued at 18 degrees C. Extensive electrophysiological characterization of these mutants indicated that low temperature largely, if not completely, corrects the folding defect of these two SUR1 mutants observed at 37 degrees C.
journal_name
FEBS Lettjournal_title
FEBS lettersauthors
Yang K,Fang K,Fromondi L,Chan KWdoi
10.1016/j.febslet.2005.06.039keywords:
subject
Has Abstractpub_date
2005-08-01 00:00:00pages
4113-8issue
19eissn
0014-5793issn
1873-3468pii
S0014-5793(05)00776-3journal_volume
579pub_type
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