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Life Sciences Commons

Open Access. Powered by Scholars. Published by Universities.®

1994

Biochemistry, Biophysics, and Structural Biology

University of Kentucky

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Full-Text Articles in Life Sciences

Cystic Fibrosis Transmembrane Conductance Regulator Mutations That Disrupt Nucleotide Binding, James Logan, David Hiestand, Paru Daram, Zhen Huang, Donald D. Muccio, John Hartman, Boyd Haley, William J. Cook, Eric J. Sorscher Jul 1994

Cystic Fibrosis Transmembrane Conductance Regulator Mutations That Disrupt Nucleotide Binding, James Logan, David Hiestand, Paru Daram, Zhen Huang, Donald D. Muccio, John Hartman, Boyd Haley, William J. Cook, Eric J. Sorscher

Molecular and Cellular Biochemistry Faculty Publications

Increasing evidence suggests heterogeneity in the molecular pathogenesis of cystic fibrosis (CF). Mutations such as deletion of phenylalanine at position 508 (delta F508) within the cystic fibrosis transmembrane conductance regulator (CFTR), for example, appear to cause disease by abrogating normal biosynthetic processing, a mechanism which results in retention and degradation of the mutant protein within the endoplasmic reticulum. Other mutations, such as the relatively common glycine-->aspartic acid replacement at CFTR position 551 (G551D) appear to be normally processed, and therefore must cause disease through some other mechanism. Because delta F508 and G551D both occur within a predicted nucleotide binding …