PMID: 17400751

Ramu Y, Xu Y, Lu Z
Inhibition of CFTR Cl- channel function caused by enzymatic hydrolysis of sphingomyelin.
Proc Natl Acad Sci U S A. 2007 Apr 10;104(15):6448-53. Epub 2007 Mar 30., 2007-04-10 [PubMed]
Sentences
No. Mutations Sentence Comment
93 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 17400751:93:33
status: NEW
view ABCC7 p.Arg117His details
 In contrast, the product of CFTR-R117H (29), another relatively common mutant, folds properly, is well transported to the cytoplasmic membrane in affected patients but is only partially functional. Login to comment 94 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 17400751:94:64
status: NEW
view ABCC7 p.Arg117His details
 SMases C and D inhibited currents through both ⌬F508 and R117H mutant CFTR channels (Fig. 6). Login to comment 137 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 17400751:137:126
status: NEW
view ABCC7 p.Arg117His details
 Inhibition of disease-causing CFTR mutants by bacterial SMases C and D. Normalized I-V relations of ⌬F508 (A and C) or R117H (B and D) mutants before and after exposure to BaSMase C (A and B) or CpSMase D (C and D). Login to comment 178 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 17400751:178:21
status: NEW
view ABCC7 p.Arg117His details
 The ⌬F508 and R117H mutant CFTR cDNAs were obtained through PCR-based mutagenesis and confirmed by DNA sequencing. Login to comment