Altered trafficking and stability of polycystins underlie polycystic kidney disease
Altered trafficking and stability of polycystins underlie polycystic kidney disease
About this item
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Author / Creator
Publisher
United States: American Society for Clinical Investigation
Journal title
Language
English
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Publisher
United States: American Society for Clinical Investigation
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Scope and Contents
Contents
The most severe form of autosomal dominant polycystic kidney disease occurs in patients with mutations in the gene (PKD1) encoding polycystin-1 (PC1). PC1 is a complex polytopic membrane protein expressed in cilia that undergoes autoproteolytic cleavage at a G protein-coupled receptor proteolytic site (GPS). A quarter of PKD1 mutations are missense...
Alternative Titles
Full title
Altered trafficking and stability of polycystins underlie polycystic kidney disease
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4348948
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4348948
Other Identifiers
ISSN
0021-9738
E-ISSN
1558-8238
DOI
10.1172/JCI67273
