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PMID: 21594775
Pedemonte N, Zegarra-Moran O, Galietta LJ
High-throughput screening of libraries of compounds to identify CFTR modulators.
Methods Mol Biol. 2011;741:13-21.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
8
ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 21594775:8:159
status:
NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Gly1349Asp
X
ABCC7 p.Gly1349Asp 21594775:8:169
status:
NEW
view ABCC7 p.Gly1349Asp details
In cystic fibrosis (CF), mutations affecting the CFTR gene cause a large variety of defects including altered CFTR channel gating (class III mutations such as
G551D
and
G1349D
) or impaired CFTR protein maturation (class II mutations such as F508del).
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39
ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 21594775:39:44
status:
NEW
view ABCC7 p.Gly551Asp details
(a) Potentiator assay: FRT cells expressing
G551D
-CFTR.
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135
ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 21594775:135:55
status:
NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Gly1349Asp
X
ABCC7 p.Gly1349Asp 21594775:135:64
status:
NEW
view ABCC7 p.Gly1349Asp details
ABCC7 p.Gly1349Asp
X
ABCC7 p.Gly1349Asp 21594775:135:66
status:
NEW
view ABCC7 p.Gly1349Asp details
3.5.3. Conditions for the Screening of Potentiators on
G551D
and
G1349D-C
FTR Cells The conditions are identical to those used to test potentiators on F508del-CFTR cells except that the step of incubation at low temperature is omitted.
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136
ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 21594775:136:68
status:
NEW
view ABCC7 p.Gly551Asp details
Furthermore, higher concentrations of potentiators are required for
G551D
cells since this mutant is more refractory to pharmacological stimulation (e.g., genistein needs to be tested at 100-200 μM instead of 50 μM).
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