| http://purl.uniprot.org/citations/20054153 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20054153 | http://www.w3.org/2000/01/rdf-schema#comment | "Loss-of-function mutations of the epithelial sodium channel (ENaC) may contribute to pulmonary symptoms resembling those of patients with atypical cystic fibrosis (CF). Recently, we identified a loss-of-function mutation in the alpha-subunit of ENaC (alphaF61L) in an atypical CF patient without mutations in CFTR. To investigate the functional effect of this mutation, we expressed human wild-type alpha beta gamma-ENaC or mutant alpha(F61L) beta gamma-ENaC in Xenopus laevis oocytes. The alphaF61L mutation reduced the ENaC mediated whole-cell currents by approximately 90%. In contrast, the mutation decreased channel surface expression only by approximately 40% and did not alter the single-channel conductance. These findings indicate that the major effect of the mutation is a reduction of the average channel open probability (P(o)). This was confirmed by experiments using the betaS520C mutant ENaC which can be converted to a channel with a P(o) of nearly one, and by experiments using chymotrypsin to proteolytically activate the channel. These experiments revealed that the mutation reduced the average P(o) of ENaC by approximately 75%. Na(+) self inhibition of the mutant channel was significantly enhanced, but the observed effect was too small to account for the large reduction in average channel P(o). The ENaC-activator S3969 partially rescued the loss-of-function phenotype of the alphaF61L mutation. We conclude that the alphaF61L mutation may contribute to respiratory symptoms in atypical CF patients."xsd:string |
| http://purl.uniprot.org/citations/20054153 | http://purl.org/dc/terms/identifier | "doi:10.1159/000272059"xsd:string |
| http://purl.uniprot.org/citations/20054153 | http://purl.uniprot.org/core/author | "Huber R."xsd:string |
| http://purl.uniprot.org/citations/20054153 | http://purl.uniprot.org/core/author | "Gmeiner P."xsd:string |
| http://purl.uniprot.org/citations/20054153 | http://purl.uniprot.org/core/author | "Azad A.K."xsd:string |
| http://purl.uniprot.org/citations/20054153 | http://purl.uniprot.org/core/author | "Cassiman J.J."xsd:string |
| http://purl.uniprot.org/citations/20054153 | http://purl.uniprot.org/core/author | "Cuppens H."xsd:string |
| http://purl.uniprot.org/citations/20054153 | http://purl.uniprot.org/core/author | "Korbmacher C."xsd:string |
| http://purl.uniprot.org/citations/20054153 | http://purl.uniprot.org/core/author | "Rauh R."xsd:string |
| http://purl.uniprot.org/citations/20054153 | http://purl.uniprot.org/core/author | "Krueger B."xsd:string |
| http://purl.uniprot.org/citations/20054153 | http://purl.uniprot.org/core/author | "Korbmacher J."xsd:string |
| http://purl.uniprot.org/citations/20054153 | http://purl.uniprot.org/core/author | "Diakov A."xsd:string |
| http://purl.uniprot.org/citations/20054153 | http://purl.uniprot.org/core/author | "Haerteis S."xsd:string |
| http://purl.uniprot.org/citations/20054153 | http://purl.uniprot.org/core/author | "Einsiedel J."xsd:string |
| http://purl.uniprot.org/citations/20054153 | http://purl.uniprot.org/core/date | "2010"xsd:gYear |
| http://purl.uniprot.org/citations/20054153 | http://purl.uniprot.org/core/name | "Cell Physiol Biochem"xsd:string |
| http://purl.uniprot.org/citations/20054153 | http://purl.uniprot.org/core/pages | "145-158"xsd:string |
| http://purl.uniprot.org/citations/20054153 | http://purl.uniprot.org/core/title | "Functional characterization of a partial loss-of-function mutation of the epithelial sodium channel (ENaC) associated with atypical cystic fibrosis."xsd:string |
| http://purl.uniprot.org/citations/20054153 | http://purl.uniprot.org/core/volume | "25"xsd:string |
| http://purl.uniprot.org/citations/20054153 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/20054153 |
| http://purl.uniprot.org/citations/20054153 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/20054153 |
| http://purl.uniprot.org/uniprot/#_C5HTY8-mappedCitation-20054153 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/20054153 |
| http://purl.uniprot.org/uniprot/#_C5HTY9-mappedCitation-20054153 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/20054153 |
| http://purl.uniprot.org/uniprot/#_C5HTZ1-mappedCitation-20054153 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/20054153 |