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Structural mechanisms of CFTR function and dysfunction.


ABSTRACT: Cystic fibrosis (CF) transmembrane conductance regulator (CFTR) chloride channel plays a critical role in regulating transepithelial movement of water and electrolyte in exocrine tissues. Malfunction of the channel because of mutations of the cftr gene results in CF, the most prevalent lethal genetic disease among Caucasians. Recently, the publication of atomic structures of CFTR in two distinct conformations provides, for the first time, a clear overview of the protein. However, given the highly dynamic nature of the interactions among CFTR's various domains, better understanding of the functional significance of these structures requires an integration of these new structural insights with previously established biochemical/biophysical studies, which is the goal of this review.

SUBMITTER: Hwang TC 

PROVIDER: S-EPMC5881446 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature

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Structural mechanisms of CFTR function and dysfunction.

Hwang Tzyh-Chang TC   Yeh Jiunn-Tyng JT   Zhang Jingyao J   Yu Ying-Chun YC   Yeh Han-I HI   Destefano Samantha S  

The Journal of general physiology 20180326 4


Cystic fibrosis (CF) transmembrane conductance regulator (CFTR) chloride channel plays a critical role in regulating transepithelial movement of water and electrolyte in exocrine tissues. Malfunction of the channel because of mutations of the <i>cftr</i> gene results in CF, the most prevalent lethal genetic disease among Caucasians. Recently, the publication of atomic structures of CFTR in two distinct conformations provides, for the first time, a clear overview of the protein. However, given th  ...[more]

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