ABCMdb

ABCC8 p.Cys26Ser

None has been submitted yet.

Publications

PMID: 22311976 [PubMed] Wang F et al: "Role of Derlin-1 protein in proteostasis regulation of ATP-sensitive potassium channels."

No. Sentence Comment

171 We therefore studied three SUR1 mutations, C26S, A116P and F1388, predicted to have folding defects in the extracellular (ER-luminal), transmembrane and cytosolic domains based on current topology model of SUR1 (Supplemental Figure 3) (43). Login to comment
228 Curiously, while a clear increase in the immature SUR1 was observed in all three mutants, only A116P was able to exit the ER and reach the cell surface upon Derlin-1 knockdown, despite that A116P had overall lower protein levels than C26S and F1388. Login to comment
188 We therefore studied three SUR1 mutations, C26S, A116P, and èc;F1388, predicted to have folding defects in the extracellular (ER-luminal), transmembrane and cytosolic domains based on the current topology model of SUR1 (supplemental Fig. 3) (43). Login to comment
227 A, HEK293 cells were transfected with Kir6.2 and WT, C26S, A116P, or èc;F1388 SUR1 along with Derlin-1 shRNA or the scramble control. Login to comment
317 Curiously, although a clear increase in the immature SUR1 was observed in all three mutants, only A116P was able to exit the ER and reach the cell surface upon Derlin-1 knockdown, despite the fact that A116P had overall lower protein levels than C26S and èc;F1388. Login to comment

PMID: 11546780 [PubMed] Conti LR et al: "Transmembrane topology of the sulfonylurea receptor SUR1."

No. Sentence Comment

57 The resulting SUR1AAA construct containing C6S, C26S, C170A, C1051S, and C1057S was referred to as NEC (no external cysteines). Login to comment
55 The resulting SUR1AAA construct containing C6S, C26S, C170A, C1051S, and C1057S was referred to as NEC (no external cysteines). Login to comment

PMID: 21199866 [PubMed] Fukuda Y et al: "Conserved intramolecular disulfide bond is critical to trafficking and fate of ATP-binding cassette (ABC) transporters ABCB6 and sulfonylurea receptor 1 (SUR1)/ABCC8."

No. Sentence Comment

266 This analysis enabled us to identify a role for the previously unrecognized defective SUR1/ABCC8 allele in a patient with hyperinsulinemic hypoglycemia, a recessive genetic disease where a point mutation results in a Cys-26 to serine substitution (Fig. 7A). Login to comment
267 The patient was a compound heterozygote: one mutant ABCC8/SUR1 allele was a previously reported trunca- Conserved Disulfide Bond in ABC Transporters 8490 JOURNAL OF BIOLOGICAL CHEMISTRY VOLUME 286•NUMBER 10•MARCH tion (19), whereas the other had only a C26S substitution. Login to comment