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Ataluren and similar compounds (specific therapies for premature termination codon class I mutations) for cystic fibrosis.

ABSTRACT:

SUBMITTER: Aslam AA

PROVIDER: S-EPMC6464785 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature

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Ataluren and similar compounds (specific therapies for premature termination codon class I mutations) for cystic fibrosis.

Aslam Aisha A AA Higgins Colin C Sinha Ian P IP Southern Kevin W KW

The Cochrane database of systematic reviews 20170119

<h4>Background</h4>Cystic fibrosis is a common life-shortening genetic disorder in the Caucasian population (less common in other ethnic groups) caused by the mutation of a single gene that codes for the production of the cystic fibrosis transmembrane conductance regulator protein. This protein coordinates the transport of salt (and bicarbonate) across cell surfaces and the mutation most notably affects the airways. In the lungs of people with cystic fibrosis, defective protein results in a dehy ...[more]

PMID: 28102546

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