ABCMdb

PMID: 26526359

Amaral MD, Balch WE
Hallmarks of therapeutic management of the cystic fibrosis functional landscape.
J Cyst Fibros. 2015 Nov;14(6):687-99. doi: 10.1016/j.jcf.2015.09.006. Epub 2015 Oct 29., [PubMed]

Sentences

No. Mutations Sentence Comment

656 ABCC7 p.Gly551Asp ABCC7 p.Gly551Ser ABCC7 p.Gly1244Glu ABCC7 p.Gly1349Asp ABCC7 p.Ser1255Pro ABCC7 p.Ser1251Asn ABCC7 p.Ser549Arg ABCC7 p.Ser549Asn ABCC7 p.Gly178Arg The FDA approval of Ivacaftor for multiple G551D like phenotypic variants including G178R, S549N, S549R, G551S, G1244E, S1251N, S1255P and G1349D [159,160] found at the cell surface with gating defects [161,162], and the FDA-approval of a combination of Lumacaftor and Ivacaftor for treatment of F508del [156] are examples of successful application of these technologies. Login to comment 657 ABCC7 p.Arg117His Yet, we are left with many challenges in terms of disease management given, for example, the modest impact of Lumacaftor-Ivacaftor combination on mitigating F508del disease phenotype [156] or Ivacaftor improving lung function in patients over 18 years with Arg117His variant but not in children [163]. Login to comment