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Fixing cystic fibrosis by correcting CFTR domain assembly.

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.

SUBMITTER: Okiyoneda T

PROVIDER: S-EPMC3471238 | biostudies-literature | 2012 Oct

REPOSITORIES: biostudies-literature

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Fixing cystic fibrosis by correcting CFTR domain assembly.

Okiyoneda Tsukasa T Lukacs Gergely L GL

The Journal of cell biology 20121001 2

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. ...[more]

PMID: 23071149

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