ABCMdb

PMID: 23454013

Denny RA, Gavrin LK, Saiah E
Recent developments in targeting protein misfolding diseases.
Bioorg Med Chem Lett. 2013 Apr 1;23(7):1935-44. doi: 10.1016/j.bmcl.2013.01.089. Epub 2013 Feb 4., [PubMed]

Sentences

No. Mutations Sentence Comment

55 ABCC7 p.Gly542* Class I mutations contribute to the formation of proteins with incomplete length and provide protein with complete loss of activity (i.e., mutation: G542X). Login to comment 58 ABCC7 p.Ser549Arg Examples of class II LOF mutations are F508del, I507del, and S549R. Login to comment 59 ABCC7 p.Gly551Asp The gene product having mutations of class III is properly synthesized, transported, and incorporated into the cell membrane, but has decreased functional activity in its gating properties, that is, mutation: G551D/S. Login to comment 60 ABCC7 p.Arg117His ABCC7 p.Arg334Trp Mutations of class IV cause abnormalities in the structure of the transmembrane protein and therefore reduce the conduction of the chloride channel (i.e., mutations R117H, R334W). Login to comment 61 ABCC7 p.Gly551Asp Lastly, mutations altering the stability of mRNA represent class V CFTR gene mutations.9 Kalydecoࡊ (Ivacaftor or VX-770, 1, Fig. 3), was approved in January, 2012 as the first disease modifying drug for patients with a class III gating mutation, G551D/S.10 Although Kalydeco is not correcting the folding or trafficking, it rectifies the gating defect of cell surface (mutant) CFTR. Login to comment