Article
Mechanisms of CFTR functional variants that impair regulated bicarbonate permeation and increase risk for pancreatitis but not for cystic fibrosis.
PLoS genetics - 1 Jul 2014
LaRusch Jessica, Jung Jinsei, General Ignacio J, Lewis Michele D, Park Hyun Woo, Brand Randall E, Gelrud Andres, Anderson Michelle A, Banks Peter A, Conwell Darwin, Lawrence Christopher, Romagnuolo Joseph, Baillie John, Alkaade Samer, Cote Gregory, Gardner Timothy B, Amann Stephen T, Slivka Adam, Sandhu Bimaljit, Aloe Amy, Kienholz Michelle L, Yadav Dhiraj, Barmada M Michael, Bahar Ivet, Lee Min Goo, Whitcomb David C
Abstract excerpt
CFTR is a dynamically regulated anion channel. Intracellular WNK1-SPAK activation causes CFTR to change permeability and conductance characteristics from a chloride-preferring to bicarbonate-preferring channel through unknown mechanisms. Two severe CFTR mutations (CFTRsev) cause complete loss of CFTR function and result in cystic fibrosis (CF), a severe genetic disorder affecting sweat glands, nasal sinuses,...
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