Back to Search
Start Over
Heterogeneity in the processing of CLCN5 mutants related to Dent disease.
- Source :
- Human Mutation; Apr2011, Vol. 32 Issue 4, p476-483, 8p, 5 Diagrams, 1 Chart, 2 Graphs
- Publication Year :
- 2011
-
Abstract
- The article discusses a study on the consequences of missense mutations of the electrogenic Cl<superscript>-</superscript>/H<superscript>+</superscript> exchanger ClC-5 in Xenopus laevis oocytes and HEK293 cells to determine other mechanisms involved in Dent disease. The disease which is an X-linked recessive rental tubular disorder is often associated with CLCN5 gene mutations. Improper N-glycosylation was observed in three mutants. A novel mechanism resulting to ClC-5 dysfunction in Dent disease was identified.
- Subjects :
- GENETIC mutation
XENOPUS laevis
CELLS
GENES
CHLORIDES
PROTONS
Subjects
Details
- Language :
- English
- ISSN :
- 10597794
- Volume :
- 32
- Issue :
- 4
- Database :
- Complementary Index
- Journal :
- Human Mutation
- Publication Type :
- Academic Journal
- Accession number :
- 59319949
- Full Text :
- https://doi.org/10.1002/humu.21467