Identification, characterization, and localization of a novel kidney polycystin-1-polycystin-2 complex

LJ Newby, AJ Streets, Y Zhao, PC Harris… - Journal of Biological …, 2002 - ASBMB
The functions of the two proteins defective in autosomal dominant polycystic kidney disease,
polycystin-1 and polycystin-2, have not been fully clarified, but it has been hypothesized that …

Polycystin-1 distribution is modulated by polycystin-2 expression in mammalian cells

DH Grimm, Y Cai, V Chauvet, V Rajendran… - Journal of Biological …, 2003 - ASBMB
Mutations in PKD1 and PKD2, the genes that encode polycystin-1 and polycystin-2
respectively, account for almost all cases of autosomal dominant polycystic kidney disease …

Polycystin: In vitro synthesis, in vivo tissue expression, and subcellular localization identifies a large membrane-associated protein

O Ibraghimov-Beskrovnaya… - Proceedings of the …, 1997 - National Acad Sciences
The primary structure of polycystin predicts a large integral membrane protein with multiple
cell recognition motifs, but its function remains unknown. Insight into polycystin's normal …

Biochemical characterization of bona fide polycystin-1 in vitro and in vivo

A Boletta, F Qian, LF Onuchic, A Bragonzi… - American journal of …, 2001 - Elsevier
The most common form of autosomal dominant polycystic kidney disease (PKD) results from
mutation of the PKD1 gene on chromosome 16p13. 3. The gene encodes a 14-kb …

Coordinate expression of the autosomal dominant polycystic kidney disease proteins, polycystin-2 and polycystin-1, in normal and cystic tissue

ACM Ong, CJ Ward, RJ Butler, S Biddolph… - The American journal of …, 1999 - Elsevier
A second gene for autosomal dominant polycystic kidney disease (ADPKD), PKD2, has
been recently identified. Using antisera raised to the human PKD2 protein, polycystin-2, we …

[HTML][HTML] A polycystin-centric view of cyst formation and disease: the polycystins revisited

ACM Ong, PC Harris - Kidney international, 2015 - Elsevier
It is 20 years since the identification of PKD1, the major gene mutated in autosomal
dominant polycystic kidney disease (ADPKD), followed closely by the cloning of PKD2 …

Autosomal dominant polycystic kidney disease: molecular analysis

PC Harris, CJ Ward, B Peral… - Human molecular …, 1995 - academic.oup.com
Using a positional cloning approach the major autosomal dominant polycystic kidney
disease (ADPKD) gene (PKD1) has been identified on chromosome 16: a disease …

Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations

F Qian, A Boletta, AK Bhunia, H Xu… - Proceedings of the …, 2002 - National Acad Sciences
Polycystin-1 plays an essential role in renal tubular morphogenesis, and disruption of its
function causes cystogenesis in human autosomal-dominant polycystic kidney disease …

Cellular and subcellular distribution of polycystin-2, the protein product of the PKD2 gene

L Foggensteiner, AP Bevan, R Thomas… - Journal of the …, 2000 - journals.lww.com
Mutations in the PKD1 and PKD2 genes account for 85 and 15% of cases of autosomal
dominant polycystic kidney disease, respectively. Polycystin-2, the product of the PKD2 …

Characterization and cell distribution of polycystin, the product of autosomal dominant polycystic kidney disease gene 1

R Palsson, CP Sharma, K Kim, M McLaughlin… - Molecular …, 1996 - Springer
Background In a majority of cases, autosomal dominant polycystic kidney disease (ADPKD)
is caused by mutations within a putative open reading frame of the PKD1 gene. The …