ABCMdb

PMID: 24970227

Wang XR, Li C
Decoding F508del misfolding in cystic fibrosis.
Biomolecules. 2014 May 6;4(2):498-509. doi: 10.3390/biom4020498., [PubMed]

Sentences

No. Mutations Sentence Comment

41 ABCC7 p.Arg555Lys This NBD1 conformational defect is fully correctable by revertant mutation R555K [24] or by low-temperature incubation in permissive cell lines, which is accompanied by conformational rescue in other CFTR domains [8]. Login to comment 62 ABCC7 p.Ile539Thr ABCC7 p.Ile539Thr I539T/4P refers to the combined I539T and four proline substitutions occurring in chicken CFTR. Login to comment 101 ABCC7 p.Ile539Thr This is largely accomplished by the I539T substitution and four additional proline substitutions at residues 422, 434, 492, and 534 as the same substitutions made in human F508del CFTR restore its processing, peripheral stability, and channel gating [40]. Login to comment 104 ABCC7 p.Ile539Thr Molecular dynamics simulation revealed that, in the presence of I539T, proline substitutions stabilize the structurally diverse regions of human F508del NBD1 [40]. Login to comment 110 ABCC7 p.Gly551Asp Food and Drug Administration (FDA) for treatment of 4%-5% of cystic fibrosis patients that carry the G551D substitution mutation [41]. Login to comment