ABCMdb

PMID: 15463893

Braunstein GM, Zsembery A, Tucker TA, Schwiebert EM
Purinergic signaling underlies CFTR control of human airway epithelial cell volume.
J Cyst Fibros. 2004 Jun;3(2):99-117., [PubMed]

Sentences

No. Mutations Sentence Comment

6 ABCC7 p.Gly551Asp ABCC7 p.Ser1455* In contrast, parental IB3-1 CF cells or IB3-1 cells expressing CFTR mutants (DF508, G551D, and S1455X) failed to RVD. Login to comment 54 ABCC7 p.Trp1282* Cell culture The bulk of experiments were performed with the IB3-1 CF human bronchial epithelial cell line that is compound heterozygous for the DF508 and W1282X CFTR mutations. Login to comment 116 ABCC7 p.Trp1282* IB3-1 cells express the DF508-CFTR and W1282X-CFTR mutations endogenously [35,49]. Login to comment 118 ABCC7 p.Gly551Asp ABCC7 p.Ser1455* ABCC7 p.Thr1478* No CFTR protein was detectable in ''mock controls``, while band B ''core glycosylated`` (130-140 kDa) and band C ''maturely glycosylated`` (160-180 kDa) forms of CFTR were found for WT-CFTR, T1478X (also DTRL)-CFTR, S1455X-CFTR, and G551D-CFTR [9,51,52]. Login to comment 119 ABCC7 p.Trp1282* ABCC7 p.Ser1455* ABCC7 p.Thr1478* IB3-1 cells express the DF508-CFTR and W1282X-CFTR mutations endogenously [35,49]. Login to comment 121 ABCC7 p.Gly551Asp ABCC7 p.Ser1455* ABCC7 p.Thr1478* No CFTR protein was detectable in ''mock controls``, while band B ''core glycosylated`` (130-140 kDa) and band C ''maturely glycosylated`` (160-180 kDa) forms of CFTR were found for WT-CFTR, T1478X (also DTRL)-CFTR, S1455X-CFTR, and G551D-CFTR [9,51,52]. Login to comment 122 ABCC7 p.Ser1455* ABCC7 p.Thr1478* S1455X-CFTR showed a similar profile to T1478X-CFTR (data not shown). Login to comment 158 ABCC7 p.Gly551Asp ABCC7 p.Ser1455* In similar experiments, DF508-CFTR and G551D-CFTR required at least 40 min to return to this threshold, and S1455X-CFTR required 30 min (data not shown). Login to comment 159 ABCC7 p.Gly551Asp Cells expressing the two disease-associated mutants, DF508-CFTR and G551D-CFTR, also failed to recover fully to the isotonic setpoint. Login to comment 163 ABCC7 p.Gly551Asp ABCC7 p.Ser1455* In similar experiments, DF508-CFTR and G551D-CFTR required at least 40 min to return to this threshold, and S1455X-CFTR required 30 min (data not shown). Login to comment 164 ABCC7 p.Gly551Asp Cells expressing the two disease-associated mutants, DF508-CFTR and G551D-CFTR, also failed to recover fully to the isotonic setpoint. Login to comment 167 ABCC7 p.Thr1478* When compared to empty vector, WT-CFTR and T1478X-CFTR were able to fully recover their cell volume after hypotonic cell swelling Fig. 3. Login to comment 172 ABCC7 p.Thr1478* When compared to empty vector, WT-CFTR and T1478X-CFTR were able to fully recover their cell volume after hypotonic cell swelling Fig. 3. Login to comment 180 ABCC7 p.Gly551Asp ABCC7 p.Ser1455* Cells expressing the more severe mutations, DF508-CFTR and G551D-CFTR, or the more severe C-terminal truncation mutant, S1455X-CFTR, were unable to fully recover their cell volume after hypotonic cell swelling. Login to comment 185 ABCC7 p.Gly551Asp ABCC7 p.Ser1455* Cells expressing the more severe mutations, DF508-CFTR and G551D-CFTR, or the more severe C-terminal truncation mutant, S1455X-CFTR, were unable to fully recover their cell volume after hypotonic cell swelling. Login to comment 199 ABCC7 p.Thr1478* The IB3-1 cells transiently transfected with WTand T1478X-CFTR showed an increase in chloride permeability and increased rate of Cl release in response to 25% hypotonic shock (Fig. 5B). Login to comment 200 ABCC7 p.Gly551Asp ABCC7 p.Ser1455* However, the cells transiently transfected with DF508-CFTR, G551D-CFTR, and S1455X-CFTR did not show a response (Fig. 5B). Login to comment 204 ABCC7 p.Thr1478* The IB3-1 cells transiently transfected with WT- and T1478X-CFTR showed an increase in chloride permeability and increased rate of ClÀ release in response to 25% hypotonic shock (Fig. 5B). Login to comment 205 ABCC7 p.Gly551Asp ABCC7 p.Ser1455* However, the cells transiently transfected with DF508-CFTR, G551D-CFTR, and S1455X-CFTR did not show a response (Fig. 5B). Login to comment 211 ABCC7 p.Thr1478* IB3-1 cells expressing WTand T1478X-CFTR showed a marked increase in magnitude of chloride efflux as well as increased rate of chloride release (n = 3-4 experiments for each construct, asterisk indicates P < 0.01 versus empty vector control, cross indicates P < 0.05 versus empty vector control). Login to comment 216 ABCC7 p.Thr1478* IB3-1 cells expressing WT- and T1478X-CFTR showed a marked increase in magnitude of chloride efflux as well as increased rate of chloride release (n = 3-4 experiments for each construct, asterisk indicates P < 0.01 versus empty vector control, cross indicates P < 0.05 versus empty vector control). Login to comment