A mutation in the β-subunit of ENaC identified in a patient with cystic fibrosis-like symptoms has a gain-of-function effect

American Journal of Physiology - Lung Cellular and Molecular Physiology

Volumn 304, Issue 1, 2013, Pages

  Rauh, Robert ^a   Soell, Daniel ^a   Haerteis, Silke ^a   Diakov, Alexei ^a   Nesterov, Viatcheslav ^a   Krueger, Bettina ^a   Sticht, Heinrich ^a   Korbmacher, Christoph ^a  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

Author keywords

Computational channel modeling; Electrophysiology; Epithelial sodium channel; Gain of function mutation; Sodium transport in cystic fibrosis; Xenopus laevis oocyte expression system

Indexed keywords

AMILORIDE; CHYMOTRYPSIN; EPITHELIAL SODIUM CHANNEL;

ABSORPTION; ALLELE; ANIMAL CELL; ANIMAL EXPERIMENT; ARTICLE; CASE REPORT; CELL STRAIN HEK293; CYSTIC FIBROSIS; DISEASE SEVERITY; ELECTROPHYSIOLOGY; FEMALE; GAIN OF FUNCTION MUTATION; HUMAN; HUMAN CELL; NONHUMAN; OOCYTE; PRIORITY JOURNAL; PROTEIN DEGRADATION; RESPIRATORY SYSTEM; SYMPTOM; WILD TYPE; XENOPUS LAEVIS;

AMINO ACID SUBSTITUTION; ANIMALS; CYSTIC FIBROSIS; EPITHELIAL SODIUM CHANNELS; FEMALE; HEK293 CELLS; HUMANS; INDOLES; MUTATION; PATCH-CLAMP TECHNIQUES; XENOPUS LAEVIS;

EID: 84871901948     PISSN: 10400605     EISSN: 15221504     Source Type: Journal    
DOI: 10.1152/ajplung.00093.2012     Document Type: Article

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