ABCMdb

PMID: 16624253

Hegedus T, Aleksandrov A, Cui L, Gentzsch M, Chang XB, Riordan JR
F508del CFTR with two altered RXR motifs escapes from ER quality control but its channel activity is thermally sensitive.
Biochim Biophys Acta. 2006 May;1758(5):565-72. Epub 2006 Mar 31., [PubMed]

Sentences

No. Mutations Sentence Comment

3 ABCC7 p.Arg555Lys ABCC7 p.Arg29Lys Now we have mutated these four AFTs in all possible combinations and found that simultaneous inactivation of two of them (R29K and R555K) is necessary and sufficient to overcome F508del CFTR retention. Login to comment 41 ABCC7 p.Arg555Lys ABCC7 p.Arg29Lys The PCR was performed according to standard Stratagene protocols using the same oligonucleotides employed to make the R29K and R555K substitutions previously [32]. Login to comment 85 ABCC7 p.Arg29Lys We reported earlier that among the single mutants only the R29K substitution produced a very low level maturation and this is not visible on the exposure in Fig. 2A. Login to comment 176 ABCC7 p.Arg555Lys In fact Teem et al. [42] had found that the R555K substitution alone restored a small F508del CFTR chloride current. Login to comment 177 ABCC7 p.Arg29Lys However as shown we could not detect any maturation with this mutation alone despite a substantial amount when it was combined with R29K. Login to comment 178 ABCC7 p.Arg29Lys We had originally detected a slight effect of R29K alone as well [32]. Login to comment