ABCMdb

PMID: 17213331

Gentzsch M, Choudhury A, Chang XB, Pagano RE, Riordan JR
Misassembled mutant DeltaF508 CFTR in the distal secretory pathway alters cellular lipid trafficking.
J Cell Sci. 2007 Feb 1;120(Pt 3):447-55. Epub 2007 Jan 9., 2007-02-01 [PubMed]

Sentences

No. Mutations Sentence Comment

18 ABCC7 p.Gly551Asp ABCC7 p.Asp572Asn By contrast, cholesterol distribution is not changed by either D572N CFTR, which does not mature even at low temperature, or G551D, which is processed normally but is inactive. Login to comment 48 ABCC7 p.Asp572Asn Cholesterol redistribution correlates with CFTR misprocessing not dysfunction To test the idea that the perturbation of cholesterol homeostasis was due to the presence of a misassembled mutant protein in the distal secretory pathway we examined CFTR variants (Fig. 3A) that are dysfunctional but processed normally (G55ID), misprocessed but not rescued from ER quality control at low temperature (D572N) or, like ⌬F508, misprocessed but rescued at low temperatures (1410X). Login to comment 51 ABCC7 p.Gly551Asp ABCC7 p.Asp572Asn Neither the severe disease-causing mutation G551D, which prevents CFTR channel activation although it is processed normally (Cutting et al., 1990; Gregory et al., 1991), nor the D572N mutation, which is retained at the ER at high or low temperature, changed cholesterol distribution from normal. Login to comment 76 ABCC7 p.Gly551Asp ABCC7 p.Asp572Asn Western blots showing maturation of CFTR and CFTR variants ⌬F508, 1410X, D572N and G551D grown at 37°C and 27°C. Login to comment 78 ABCC7 p.Gly551Asp ABCC7 p.Asp572Asn D572N CFTR is retained at the ER at high or low temperature and the severe-disease-causing mutation G551D, which prevents CFTR channel activation, is processed normally at 37°C and 27°C. Login to comment 86 ABCC7 p.Gly551Asp ABCC7 p.Asp572Asn Microscopy showing filipin staining of CFTR and CFTR variants ⌬F508, 1410X, D572N and G551D grown at 27°C. Login to comment 162 ABCC7 p.Gly551Asp ABCC7 p.Asp572Asn Stable BHK-21 cell lines expressing G551D and D572N variants of CFTR or the C-terminal truncation 1410X CFTR were established as described previously (Chang et al., 1993; Gentzsch and Riordan, 2001; Loo et al., 1998). Login to comment