ABCMdb

PMID: 18045175

Saeed Z, Wojewodka G, Marion D, Guilbault C, Radzioch D
Novel pharmaceutical approaches for treating patients with cystic fibrosis.
Curr Pharm Des. 2007;13(31):3252-63., [PubMed]

Sentences

No. Mutations Sentence Comment

14 ABCC7 p.Gly551Asp These mutations have been grouped into 5 different classes of protein dysfunctions as shown in Fig. (1) [3]: • Class I- defective protein maturation and premature degradation • Class II- deregulation of the CFTR protein processing, for example diminished ATP binding and hydrolysis ( F508 mutation found in 70-80% of CF patients) • Class III- block in regulation which causes a disruption of activation and regulation of the CFTR protein at the plasma membrane, for example the protein may be defective in ATP binding and hydrolysis, or phosphorylation (G551D mutation). Login to comment 52 ABCC7 p.Gly551Asp Class I is described when there is defective protein maturation and premature degradation; Class II is a deregulation of the CFTR protein processing, for example diminished ATP binding and hydrolysis ( F508 mutation found in 70-80% of CF patients); Class III occurs when regulation is blocked causing a disruption in activation and regulation of CFTR protein at the plasma membrane, for example the protein may be defective in respect to ATP binding and hydrolysis, or phosphorylation (G551D mutation). Login to comment