The trafficking of ion channels to the plasma membrane is tightly controlled to ensure the
proper regulation of intracellular ion homeostasis and signal transduction. Mutations of …

Polycystin-2 is a member of the transient receptor potential (TRP) family of ion channels that
is mutated in autosomal dominant polycystic kidney disease. Although its function as a non …

Mutations in polycystin-1 and transient receptor potential polycystin 2 (TRPP2) account for
almost all clinically identified cases of autosomal dominant polycystic kidney disease …

Polycystin-2, the product of the gene mutated in type 2 autosomal dominant polycystic
kidney disease (ADPKD), is the prototypical member of a subfamily of the transient receptor …

Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in PKD 1 or
PKD 2 gene, encoding the polycystic kidney disease protein polycystin‐1 and the transient …

Mutations in either polycystin-1 (PC1 or PKD1) or polycystin-2 (PC2, PKD2 or TRPP1) cause
autosomal-dominant polycystic kidney disease (ADPKD) through unknown mechanisms …

The C-terminal cytoplasmic tail of polycystin-2 (PC2/TRPP2), a Ca2+-permeable channel, is
frequently mutated or truncated in autosomal dominant polycystic kidney disease. We have …

The founding member of the TRPP family, TRPP2, was identified as one of the disease
genes causing autosomal dominant polycystic kidney disease (ADPKD). ADPKD is the most …

Autosomal dominant polycystic kidney disease (ADPKD), the most common inherited cause
of kidney failure, is caused by mutations in either PKD1 (85%) or PKD2 (15%). The PKD2 …

Autosomal dominant polycystic kidney disease (ADPKD) is a prevalent genetic disorder
largely caused by mutations in the PKD1 and PKD2 genes that encode the transmembrane …