A Novel Claudin 16 Mutation Associated with Childhood Hypercalciuria Abolishes Binding to ZO-1 and Results in Lysosomal Mistargeting
- 1 December 2003
- journal article
- research article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 73 (6) , 1293-1301
- https://doi.org/10.1086/380418
Abstract
No abstract availableKeywords
This publication has 28 references indexed in Scilit:
- Connexin45 directly binds to ZO‐1 and localizes to the tight junction region in epithelial MDCK cellsFEBS Letters, 2001
- Paracellin-1 is critical for magnesium and calcium reabsorption in the human thick ascending limb of HenleKidney International, 2001
- Mutations in the Gene Encoding Tight Junction Claudin-14 Cause Autosomal Recessive Deafness DFNB29Cell, 2001
- Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 geneEuropean Journal of Human Genetics, 2000
- The PDZ Domains of Zonula Occludens-1 Induce an Epithelial to Mesenchymal Transition of Madin-Darby Canine Kidney I Cells: EVIDENCE FOR A ROLE OF β-CATENIN/Tcf/Lef SIGNALINGPublished by Elsevier ,2000
- PDZ domains bind carboxy-terminal sequences of target proteinsTrends in Biochemical Sciences, 1996
- Cytoplasmic determinants involved in direct lysosomal sorting, endocytosis, and basolateral targeting of rat lgp120 (lamp-I) in MDCK cells.The Journal of cell biology, 1995
- An endogenous MDCK lysosomal membrane glycoprotein is targeted basolaterally before delivery to lysosomes.The Journal of cell biology, 1991
- Reference values for urinary calcium excretion and screening for hypercalciuria in children and adolescentsEuropean Journal of Pediatrics, 1984
- Hypercalciuria in Children with HematuriaNew England Journal of Medicine, 1984