Abstract
For cystic fibrosis (CF) patients most therapies focus on alleviating the disease symptoms. Yet the cellular basis of the disease has been well studied; mutations in the CF gene can impair folding, secretion, cell surface stability, and/or function of the CFTR chloride channel. Correction of these basic defects has been a challenge, but indicates that a deeper understanding of the molecular and cellular mechanism of mutations is a prerequisite for developing more efficient therapies.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Chloride Channels / genetics
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Cystic Fibrosis / genetics*
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Cystic Fibrosis / therapy*
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Cystic Fibrosis Transmembrane Conductance Regulator / chemistry*
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Cystic Fibrosis Transmembrane Conductance Regulator / genetics
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Cystic Fibrosis Transmembrane Conductance Regulator / metabolism*
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Humans
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Mutation
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Protein Folding
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Protein Structure, Tertiary
Substances
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CFTR protein, human
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Chloride Channels
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Cystic Fibrosis Transmembrane Conductance Regulator