Home
Browse
Search
Statistics
About
Usage
PMID: 24949105
Cebotaru L, Guggino WB
Complement yourself: Transcomplementation rescues partially folded mutant proteins.
Biophys Rev. 2014 Mar 1;6(1):169-180.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
77
ABCC7 p.Arg553Gln
X
ABCC7 p.Arg553Gln 24949105:77:79
status:
NEW
view ABCC7 p.Arg553Gln details
ABCC7 p.Arg553Met
X
ABCC7 p.Arg553Met 24949105:77:69
status:
NEW
view ABCC7 p.Arg553Met details
Using a mutagenesis approach, they were able to isolate two mutants,
R553M
and
R553Q
, which in combination with ƊF508 restored mating.
Login to comment
80
ABCC7 p.Ile539Thr
X
ABCC7 p.Ile539Thr 24949105:80:112
status:
NEW
view ABCC7 p.Ile539Thr details
For example, Hoelen (43), again using a limited proteolysis approach to assess domain stability, showed that an
I539T
second-site suppressor mutation, in combination with ƊF508 CFTR, restored NBD1 stability to the wt domain pattern, suggesting that correcting NBD1 stability will be critical for the development of a therapeutic for CF.
Login to comment
89
ABCC7 p.Arg1070Trp
X
ABCC7 p.Arg1070Trp 24949105:89:77
status:
NEW
view ABCC7 p.Arg1070Trp details
Recent experiments have shown that certain amino acid substitutions, namely
R1070W
in combination with ƊF508 CFTR, can rescue ƊF508 CFTR trafficking, again pointing to the importance of domain-domain interactions in the mis-processing of ƊF508 (62).
Login to comment