ABCMdb

ABCC7 p.Thr1471Asp

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Publications

PMID: 23067305 [PubMed] Tosoni K et al: "CFTR mutations altering CFTR fragmentation."

No. Sentence Comment

44 Cell culture, lysis, protein solubilization and Western blotting The cell culture methods to create the stable CFTR-expressing cell lines (WT, F, WT S422A, WT S422D, WT S511A, WT S511D, WT T1471A and WT T1471D) and their culture protocols have been described recently [25]. Login to comment
187 The most dramatic effect on synthesis was seen after the T1471D mutation (augmenting the negative charge at the regulatory acid stretch, nine amino acids from the C-terminus of wt-CFTR), which abolished the mature 'band C` form of CFTR reminiscent of the findings when F508delCFTR fails to mature in the Golgi from band B (in the ER) to band C (in the plasma membrane). Login to comment
205 Compare similarities and differences in fragmentation between lanes 8 and 9 which both reduce the amount of full-length CFTR (T1471D or F508del). Login to comment
216 In contrast T1471D displays gross attenuation of all fragments (only Q4 remains visible with the NBD1 and N-terminal antibodies). Login to comment
217 The absence of other bands may be a false-negative artefact of low fragment abundance because we find that the full-length wt-CFTR with the T1471D mutation is also attenuated and thus (from an abundance perspective) is indistinguishable from the pattern seen with F508delCFTR, despite the wt background. Login to comment
218 This confirms recent data [25] showing that T1471D abolished the formation of any fully glycosylated band C CFTR in the same cell line and is consistent with the importance of the acid cluster surrounding T1471 towards the relative rates of opening and closing of CFTR [26]. Login to comment
220 In summary, the two S511A/S511D and T1471A/T1471D pairs manifested very different CFTR cleavage patterns and abundance of full-length CFTR when present on a wt background. Login to comment