Article
Alteration of CFTR transmembrane span integration by disease-causing mutations.
Molecular biology of the cell - 1 Dec 2011
Patrick Anna E, Karamyshev Andrey L, Millen Linda, Thomas Philip J
Abstract excerpt
Many missense mutations in the cystic fibrosis transmembrane conductance regulator protein (CFTR) result in its misfolding, endoplasmic reticulum (ER) accumulation, and, thus, cystic fibrosis. A number of these mutations are located in the predicted CFTR transmembrane (TM) spans and have been projected to alter span integration. However, the boundaries of the spans have not been precisely defined experimentally....
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