ABCC7 p.Gln1280Cys

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PMID: 18305154 [PubMed] Serohijos AW et al: "Phenylalanine-508 mediates a cytoplasmic-membrane domain contact in the CFTR 3D structure crucial to assembly and channel function."
No. Sentence Comment
72 Cross-linking of C276/Q1280C and C276/K1284C confirms interaction of CL2 and NBD2.
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ABCC7 p.Gln1280Cys 18305154:72:22
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101 (Right, Bottom two) Controls showing the lack of effects of cross-linking of the Cys-less construct and individually expressed and mixed single cysteine constructs (labeled 276C ϩ Q1280C) under the same conditions (see also SI Fig. 8).
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ABCC7 p.Gln1280Cys 18305154:101:186
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103 (Left) There is greater propensity for disulfide bond formation at the CL2/NBD2 interface (276C/Q1280C) than at the CL4/NBD1 interface.
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ABCC7 p.Gln1280Cys 18305154:103:96
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113 In fact, the Q1280C and K1284C substitutions in NBD2 of Cys-less CFTR containing the native Cys-276 residue in CL2 (illustrated in Fig. 3A, Top Right) enabled cross-linking by all MTS reagents tested.
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ABCC7 p.Gln1280Cys 18305154:113:13
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130 (Middle) Cys-less CFTR with 276C/Q1280C (n ϭ 3).
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ABCC7 p.Gln1280Cys 18305154:130:33
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PMID: 20233947 [PubMed] He L et al: "Restoration of domain folding and interdomain assembly by second-site suppressors of the DeltaF508 mutation in CFTR."
No. Sentence Comment
122 As shown in Fig. 3A, when ⌬F508 was introduced into Cys-less CFTR containing pairs 276C/Q1280C or 276C/K1284C at the NBD2/CL2 interface, no mature CFTR was detected, and neither M3M nor M8M (200 ␮M) caused cross-linking of the immature band.
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ABCC7 p.Gln1280Cys 20233947:122:95
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125 As shown in Fig. 3A, ⌬F508-CFTR maturation was restored as was the cross-linking of the Cys pairs 276C/Q1280C and 276C/ K1284C at NBD2/CL2, as indicated by the slower migration rate of the mature bands in SDS-PAGE in samples treated with M3M and M8M (18).
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ABCC7 p.Gln1280Cys 20233947:125:110
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PMID: 20561529 [PubMed] Aleksandrov AA et al: "Regulatory insertion removal restores maturation, stability and function of DeltaF508 CFTR."
No. Sentence Comment
154 HEK 293 cells were transiently transfected with Cys-less ΔF508 CFTR with Cys pairs introduced at the CL2-NBD2 (C276-Q1280C) or CL4-NBD1 (V510C-G1069C) interfaces in the absence or presence of ΔRI.
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ABCC7 p.Gln1280Cys 20561529:154:122
status: NEW
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PMID: 15581632 [PubMed] Buyse F et al: "Mistargeted MRPdeltaF728 mutant is rescued by intracellular GSH."
No. Sentence Comment
154 HEK 293 cells were transiently transfected with Cys-less ΔF508 CFTR with Cys pairs introduced at the CL2-NBD2 (C276-Q1280C) or CL4- NBD1 (V510C-G1069C) interfaces in the absence or presence of ΔRI.
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ABCC7 p.Gln1280Cys 15581632:154:122
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PMID: 23104983 [PubMed] He L et al: "Correctors of DeltaF508 CFTR restore global conformational maturation without thermally stabilizing the mutant protein."
No. Sentence Comment
126 HEK293 cells were transiently transfected with Cys-less CFTR or Cys-less èc;F508 CFTR with Cys pairs 276C/Q1280C or V510C/G1069C, introduced at NBD2/CL2 and NBD1/CL4 interfaces, respectively (13).
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ABCC7 p.Gln1280Cys 23104983:126:110
status: NEW
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