Article
No detectable improvements in cystic fibrosis transmembrane conductance regulator by nasal aminoglycosides in patients with cystic fibrosis with stop mutations.
American journal of respiratory cell and molecular biology - 1 Jul 2007
Clancy John P, Rowe Steven M, Bebok Zsuzsa, Aitken Moira L, Gibson Ron, Zeitlin Pam, Berclaz Pierre, Moss Rick, Knowles Michael R, Oster Robert A, Mayer-Hamblett Nicole, Ramsey Bonnie
Abstract excerpt
Cystic fibrosis (CF) is an autosomal recessive disorder caused by many types of genetic defects, including premature stop codons. Gentamicin can suppress stop mutations in CF transmembrane conductance regulator (CFTR) in vitro and in vivo, leading to improvements in CFTR-dependent ion transport and protein localization to the apical surface of respiratory epithelial cells. The primary objective of this study was...
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