ABCMdb

PMID: 12777252

Bertrand CA, Frizzell RA
The role of regulated CFTR trafficking in epithelial secretion.
Am J Physiol Cell Physiol. 2003 Jul;285(1):C1-18., [PubMed]

Sentences

No. Mutations Sentence Comment

171 ABCC7 p.Gly551Asp They also showed that the internalization rate of G551D CFTR was similar to that of the wild-type protein but that, interestingly, its endocytosis was not affected by cAMP. Login to comment 172 ABCC7 p.Gly551Asp This finding suggested that either the channel activity of CFTR is related to its ability to be retrieved from the cell surface or the altered structure of the G551D mutant precludes regulation of both gating and trafficking. Login to comment 195 ABCC7 p.Tyr1424Ala Cells expressing either a dominant negative ␮2 or a CFTR lacking the tyrosine-based internalization motif at the COOH terminus (Y1424A) fail to endocytose CFTR efficiently. Login to comment 404 ABCC7 p.Asn287Tyr The N287Y mutant resides in the second intracellular loop of CFTR and results in mild disease when expressed in combination with ⌬F508 CFTR. Login to comment 405 ABCC7 p.Asn287Tyr This mutant did not exhibit a folding defect, because the N287Y and wt CFTRs showed similar maturation kinetics. Login to comment 408 ABCC7 p.Asn287Tyr Cl transport was reduced in proportion to altered cell surface CFTR, but the single-channel properties of N287Y were similar to those of wt CFTR. Login to comment 409 ABCC7 p.Asn287Tyr Biotinylation experiments showed that N287Y CFTR was internalized approximately twice as fast as wt CFTR, which is expected to alter its distribution between plasma membrane and intracellular compartments. Login to comment