ABCMdb

PMID: 12458151

Powell K, Zeitlin PL
Therapeutic approaches to repair defects in deltaF508 CFTR folding and cellular targeting.
Adv Drug Deliv Rev. 2002 Dec 5;54(11):1395-408., [PubMed]

Sentences

No. Mutations Sentence Comment

87 ABCC7 p.Trp1282* Examples of carcinoma cells expressing DF508 cDNA was re- common mutations in this class are: W1282X, duced [34]. Login to comment 88 ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Gly542* These authors [34] immunoprecipitated G542X, R553X, 621 1 1 G → T, 1717-1 G → A, the immature bands A and B of mutant DF508 CFTR and 3905insT. Login to comment 89 ABCC7 p.Arg553* ABCC7 p.Gly542* These authors [34] immunoprecipitated G542X, R553X, 621 1 1 G ࢐ T, 1717-1 G ࢐ A, the immature bands A and B of mutant DF508 CFTR and 3905insT. Login to comment 92 ABCC7 p.Pro574His ABCC7 p.Asn1303Lys The effect the DF508, as well as the N1303K, and P574H. Login to comment 93 ABCC7 p.Gly551Asp ABCC7 p.Pro574His ABCC7 p.Gly551Ser ABCC7 p.Asn1303Lys on band C formation was reversible so that when the Class III mutations are defective in regulation of cells were placed back into culture at 37 8C, the chloride conductance through the CFTR at the amount of fully mature protein decreased with a plasma membrane and include the G551D and half-life of approximately 7 h (similar to wild type) G551S mutations. Login to comment 94 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Gly551Ser Class IV mutations (R117H, and was not replaced with mature protein. Login to comment 95 ABCC7 p.Arg117His ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro Cyclic R334W, R347P) result in a CFTR that reaches the AMP activated chloride conductance was present for plasma membrane but has reduced chloride conduct- cells grown at 30 8C but not at 37 8C. Login to comment 96 ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro Cyclic R334W, R347P) result in a CFTR that reaches the AMP activated chloride conductance was present for plasma membrane but has reduced chloride conduct- cells grown at 30 8C but not at 37 8C. Login to comment 97 ABCC7 p.Ala455Glu Class V defects (3849 1 10 kB C → T, A455E, by lowering the incubation temperature for cell 2789 1 5G → A) lead to a reduction in the pro-growth, the CFTR may attain a conformation that duction of CFTR, although residual product reaches allows it to escape from degradation in the ER and the surface and is functionally operational. Login to comment 98 ABCC7 p.Ala455Glu Class V defects (3849 1 10 kB C ࢐ T, A455E, by lowering the incubation temperature for cell 2789 1 5G ࢐ A) lead to a reduction in the pro-growth, the CFTR may attain a conformation that duction of CFTR, although residual product reaches allows it to escape from degradation in the ER and the surface and is functionally operational. Login to comment 119 ABCC7 p.Ser1251Ala ABCC7 p.Asp572Ala By studying Among the best-studied molecular chaperones are other CFTR mutations (D572A and S1251A), it was the 70-kDa heat shock proteins, including Hsp70 shown that these mutations were not sensitive to [40] and Hsc70. Login to comment 198 ABCC7 p.Trp1282* Rubens- Once DF508 CFTR escapes the ER and passes tein and Zeitlin [46] looked at IB3-1 cells (genotype through the Golgi, there are additional barriers to DF508/W1282X) grown in 0.05-5 mM 4-PBA for 2 cross to reach the plasma membrane. Login to comment 285 ABCC7 p.Gly551Asp conductance of CFTR in G551D HeLa cells but not The flavonoids have many functions that may be homozygous DF508 cells unless they were pretreated important in modulating mutant CFTR, and the use with 4-PBA [84]. Login to comment 286 ABCC7 p.Gly551Asp conductance of CFTR in G551D HeLa cells but not The flavonoids have many functions that may be homozygous DF508 cells unless they were pretreated important in modulating mutant CFTR, and the use with 4-PBA [84]. Login to comment 287 ABCC7 p.Gly551Asp A recent study by CFTR that is already present on the cell surface, as Andersson et al. showed that by treating a CF with the G551D mutation and the DF508 mutation bronchial epithelial cell line, a line that expresses the after treatment with 4-PBA. Login to comment 288 ABCC7 p.Gly551Asp A recent study by CFTR that is already present on the cell surface, as Andersson et al. showed that by treating a CF with the G551D mutation and the DF508 mutation bronchial epithelial cell line, a line that expresses the after treatment with 4-PBA. Login to comment 399 ABCC7 p.Gly551Asp missense mutation G551D is recovered by genistein, Am. J. 155 (1999) 473-481. Login to comment 405 ABCC7 p.Gly551Asp missense mutation G551D is recovered by genistein, Am. J. 155 (1999) 473-481. Login to comment