Article
Molecular Dynamics and Theratyping in Airway and Gut Organoids Reveal R352Q-CFTR Conductance Defect.
American journal of respiratory cell and molecular biology - 1 Jul 2022
Wong Sharon L, Awatade Nikhil T, Astore Miro A, Allan Katelin M, Carnell Michael J, Slapetova Iveta, Chen Po-Chia, Setiadi Jeffry, Pandzic Elvis, Fawcett Laura K, Widger John R, Whan Renee M, Griffith Renate, Ooi Chee Y, Kuyucak Serdar, Jaffe Adam, Waters Shafagh A
Abstract excerpt
A significant challenge to making targeted cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapies accessible to all individuals with cystic fibrosis (CF) are many mutations in the CFTR gene that can cause CF, most of which remain uncharacterized. Here, we characterized the structural and functional defects of the rare CFTR mutation R352Q, with a potential role contributing to intrapore...
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