Associated Papers
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
28957316 (PubMed )
Supplement: pgen.1006915.s002.xlsx › Table_S2
The cystic fibrosis V232D mutation inhibits CFTR maturation by disrupting a hydrophobic pocket rather than formation of aberrant interhelical hydrogen bonds.
Loo TW et al.
Biochemical Pharmacology, 2014
Correctors of ΔF508 CFTR restore global conformational maturation without thermally stabilizing the mutant protein.
He L et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2013
Repair of CFTR folding defects with correctors that function as pharmacological chaperones.
Loo TW et al.
Methods in Molecular Biology (clifton, N.j.), 2011
Misfolding of the cystic fibrosis transmembrane conductance regulator and disease.
Cheung JC et al.
Biochemistry, 2008
Modulating the folding of P-glycoprotein and cystic fibrosis transmembrane conductance regulator truncation mutants with pharmacological chaperones.
Wang Y et al.
Molecular Pharmacology, 2007
The chemical chaperone CFcor-325 repairs folding defects in the transmembrane domains of CFTR-processing mutants.
Loo TW et al.
The Biochemical Journal, 2006
A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models.
Chen JM et al.
Molecular Biology and Evolution, 2001
Novel Cystic Fibrosis mutation L1093P: functional analysis and possible Native American origin.
Yee K et al.
Human Mutation, 2000
Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene.
Macek M et al.
Human Mutation, 1997
Disease-associated mutations in the fourth cytoplasmic loop of cystic fibrosis transmembrane conductance regulator compromise biosynthetic processing and chloride channel activity.
Seibert FS et al.
The Journal of Biological Chemistry, 1996
Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Ghanem N et al.
Genomics, 1994
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