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Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive
TLDR
It is shown that the processing of CFTRΔF508 reverts towards that of wild-type as the incubation temperature is reduced, and when the processing defect is corrected, cAMP-regulated Cl− channels appear in the plasma membrane.
Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis
TLDR
It is proposed that the mutant versions of CFTR are recognized as abnormal and remain incompletely processed in the endoplasmic reticulum where they are subsequently degraded.
Phosphorylation of the R domain by cAMP-dependent protein kinase regulates the CFTR chloride channel
TLDR
The four phosphorylated events appear to be degenerate: no one site is essential for channel activity, and, at least in the case of serine 660, phosphorylation at one site alone is sufficient for regulation of Cl- channel activity.
A specific and potent inhibitor of glucosylceramide synthase for substrate inhibition therapy of Gaucher disease.
TLDR
Biochemical characterization and data indicate that substrate inhibition therapy with Genz-112638 represents a viable alternate approach to enzyme therapy to treat the visceral pathology in Gaucher disease.
Detailed analysis of structures and formulations of cationic lipids for efficient gene transfer to the lung.
TLDR
The data demonstrate that cationic lipid-mediated gene delivery and expression of CFTR in CF lungs is a viable and promising approach for treatment of the disease.
Expression and characterization of the cystic fibrosis transmembrane conductance regulator
TLDR
It is demonstrated that CFTR is a membrane-associated glycoprotein that can be phosporylated in vitro by cAMP-dependent protein kinase and partial proteolysis fingerprinting showed that the recombinant and non-recombinant proteins are indistinguishable.
Contribution of plasmid DNA to inflammation in the lung after administration of cationic lipid:pDNA complexes.
TLDR
Findings indicate that unmethylated CpG residues in pDNA are a major contributor to the induction of specific proinflammatory cytokines associated with instillation of cationic lipid:pDNA complexes into the lung.
Basis of pulmonary toxicity associated with cationic lipid-mediated gene transfer to the mammalian lung.
TLDR
Analysis of the individual components of the complex revealed that the pulmonary inflammation was primarily cationic lipid-mediated with a minor contribution from the neutral co-lipid DOPE, and indicates that a significant improvement in the potency of cATIONic lipid:pDNA formulations is desirable to minimize the toxicity associated with cationIC lipids.
Functional activation of the cystic fibrosis trafficking mutant delta F508-CFTR by overexpression.
TLDR
The observation that overexpression can effect the presence of recombinant delta F508-CFTR at the plasma membrane suggests that perhaps other butyrate-like compounds that are more potent and more specific for the promoter of the CF gene may be efficacious in alleviating the Cl- channel defect associated with CF.
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