ABCC8 p.Lys1521Asn
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PMID: 18346985
[PubMed]
Tarasov AI et al: "A rare mutation in ABCC8/SUR1 leading to altered ATP-sensitive K+ channel activity and beta-cell glucose sensing is associated with type 2 diabetes in adults."
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83
(E), wild type; (F), Y356C; (f), K1521N; (Ⅺ), H1023Y; (Œ), R248Q; (‚), L582V; (ૺ), R1379C.
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ABCC8 p.Lys1521Asn 18346985:83:33
status: NEW117 The two other ABCC8 mutations that we found to be associated with adult-onset diabetes were R248Q (type 2 diabetic patient diagnosed at age 39 years without familial cosegregation) (online appendix Fig. 1) and K1521N (two type 2 diabetic patients diagnosed at age 37 and 42 years).
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ABCC8 p.Lys1521Asn 18346985:117:210
status: NEW120 To test whether the mutations associated with type 2 diabetes might affect stimulus-secretion coupling in beta-cells, we next measured the sensitivity to ATP of recombinant KATP channels carrying SUR-Y356C, -R248Q, and -K1521N and compared these to the ATP sensitivity of TND-associated mutants (4), L582V, H1023Y, and R1379C.
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ABCC8 p.Lys1521Asn 18346985:120:220
status: NEW125 The concentration-inhibition curves for KATP channels carrying SUR1-R248Q and SUR1-K1521N were practically identical to the wild type, suggesting either that these mutations affected other properties of the channel or were not responsible for diabetes (Fig. 1C).
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ABCC8 p.Lys1521Asn 18346985:125:83
status: NEW126 KATP channel conductance of the inside-out patches expressing SUR1-K1521N was not different from wild type (11.3 Ϯ 5.6 ns and 12.5 Ϯ 5.9 ns, respectively), as measured in nucleotide-free solution.
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ABCC8 p.Lys1521Asn 18346985:126:67
status: NEW187 INS1(832/13) cells overexpressing SUR1-K1521N channels showed an unchanged [Ca2ϩ ]cyt response to glucose compared with wild-type cells (Fig. 5B and C).
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ABCC8 p.Lys1521Asn 18346985:187:39
status: NEW