ABCMdb

ABCC7 p.Leu375Ala

None has been submitted yet.

Publications

PMID: 23924900 [PubMed] Ren HY et al: "VX-809 corrects folding defects in cystic fibrosis transmembrane conductance regulator protein through action on membrane-spanning domain 1."

No. Sentence Comment

72 Despite the severe biogenic defects exhibited by F374A-CFTR, L375A-CFTR, the double mutation F374A/L375A-CFTR (Figure 3A), F374A-CFTR 380, and L375A-CFTR 380 (Figure 3B), VX-809 almost completely suppressed the biogenic defects caused by the F374A and L375A mutations at the 5-bc;M concentration that maximally suppressed folding defects in F508del-CFTR (Figure 3, A and B). Login to comment
153 (D) F374A L375A CFTR exhibits a folding defect that is not efficaciously suppressed by VX-809. Login to comment
159 100 520 14 123 CFTR 380 L375A % of Cont. Login to comment
162 380- CFTR 380 Trypsin (ug/ml) 25 20 15- - - - + Vehicle +VX-809 * CFTR 370 CFTR 370 2520- 15- CFTR 380 * +Vehicle + VX-809 ** ** + _ Wt _ VX-809 + _ + _ F374A L375A F374A L375A + _ ࢞371-375 Tub- C- BC- 100 4 108 6 115 2 12 8 7 B31 24 28 23 24 25 27 22 19 CFTR %-Wt C-band C. VX-809 0 5 10 15 _ ࢞371-375 -C -B CFTR Wt %-Wt 100 4 6 5 2 C-band 25 12 18 11 8 + CFTR 3800 25 2 1 7 3 0 25 2 1 7 3 D. Login to comment
219 Soluble lysates were obtained by centrifugation at 20,000 &#d7; g combined mutation of F374A and L375A but efficaciously suppresses folding defects caused by each individual mutation. Login to comment