Mechanisms of CFTR Functional Variants That Impair Regulated Bicarbonate Permeation and Increase Risk for Pancreatitis but Not for Cystic Fibrosis

Article English OPEN
Jessica LaRusch; Jinsei Jung; Ignacio J General; Michele D Lewis; Hyun Woo Park; Randall E Brand; Andres Gelrud; Michelle A Anderson; Peter A Banks; Darwin Conwell; Christopher Lawrence; Joseph Romagnuolo; John Baillie; Samer Alkaade; Gregory Cote; Timothy B Gardner; Stephen T Amann; Adam Slivka; Bimaljit Sandhu; Amy Aloe; Michelle L Kienholz; Dhiraj Yadav; M Michael Barmada; Ivet Bahar; Min Goo Lee; David C Whitcomb; North American Pancreatitis Study Group;
(2014)
  • Publisher: Public Library of Science
  • Journal: volume 10, issue 7issn: 1553-7390, eissn: 1553-7404
  • Publisher copyright policies & self-archiving
  • Related identifiers: pmc: PMC4102440, doi: 10.1371/journal.pgen.1004376
  • Subject: Endocrine System | Human Genetics | Research Article | Anatomy | Upper Respiratory Tract Infections | Autosomal Recessive Traits | Medicina Clínica | QH426-470 | Genetics | ION CHANNEL | CYSTIC FIBROSIS | Pancreas | Proteins | Biology and Life Sciences | Gastroenterology and Hepatology | MOLECULAR MODELLING | Developmental Biology | CIENCIAS MÉDICAS Y DE LA SALUD | Physiology | Pulmonology | Infertility | Respiratory Infections | Electrophysiology | Medicina Critica y de Emergencia | Biochemistry | Clinical Genetics | Urology | PANCREATITIS | Fibrosis | Genetic Dominance | Medicine and Health Sciences

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 (CFTRs... View more