PMID: 22038833

Colas J, Faure G, Saussereau E, Trudel S, Rabeh WM, Bitam S, Guerrera IC, Fritsch J, Sermet-Gaudelus I, Davezac N, Brouillard F, Lukacs GL, Herrmann H, Ollero M, Edelman A
Disruption of cytokeratin-8 interaction with F508del-CFTR corrects its functional defect.
Hum Mol Genet. 2012 Feb 1;21(3):623-34. Epub 2011 Oct 28., [PubMed]
Sentences
No. Mutations Sentence Comment
29 ABCC7 p.Val510Asp
X
ABCC7 p.Val510Asp 22038833:29:125
status: NEW
view ABCC7 p.Val510Asp details
ABCC7 p.Phe494Asn
X
ABCC7 p.Phe494Asn 22038833:29:132
status: NEW
view ABCC7 p.Phe494Asn details
ABCC7 p.Gln637Arg
X
ABCC7 p.Gln637Arg 22038833:29:142
status: NEW
view ABCC7 p.Gln637Arg details
 The first one shows experimentally that NBD1 destabilization occurs as a consequence of three solubilizing mutations, namely V510D, F494N and Q637R (21). Login to comment