The Polycystins and Polycystic Kidney Disease

BL Blazer-Yost, DP Wallace - … of Epithelia in Health and Disease-Vol. 3, 2020 - Springer
… In summary, involvement of the polycystins in ADPKD has underscored the importance of
these proteins in normal renal function. The fundamental research studies that followed the …

Regulation of polycystin expression, maturation and trafficking

J Hu, PC Harris - Cellular signalling, 2020 - Elsevier
… The major autosomal dominant polycystic kidney disease (ADPKD) genes, PKD1 and PKD2…
PKD1 encodes polycystin 1 (PC1), a large membrane associated receptor-like protein that …

Ciliary mechanisms of cyst formation in polycystic kidney disease

M Ma, AR Gallagher, S Somlo - Cold Spring Harbor …, 2017 - cshperspectives.cshlp.org
… called cysts. The causal genes PKD1 and PKD2 encode transmembrane proteins polycystin
1 (PC1) and polycystin 2 (… offer exciting prospects for novel discoveries for the next phase of …

Classical polycystic kidney disease: gene structures and mutations and protein structures and functions

E Cornec-Le Gall, PC Harris - Polycystic Kidney Disease: Translating …, 2018 - Springer
Polycystin-1 (PC1) PC1 is predicted to be a large, membrane-associated protein with a …
In addition, ~60% of mutations are missense (with ~40% truncating), and as is typical for novel

Mechanisms of cyst development in polycystic kidney disease

J Qiu, GG Germino, LF Menezes - Advances in kidney disease and health, 2023 - Elsevier
… for polycystins domain, is conserved in polycystins and is … protein, polycystin-2 (PC2). PC2
is a member of the transient receptor potential protein family, with 6 TMs, a novel polycystin-…

Recent advances in the molecular diagnosis of polycystic kidney disease

C Bergmann - Expert review of molecular diagnostics, 2017 - Taylor & Francis
polycystins are widely expressed in tissues other than kidney. … , ligand, and/or
membrane-associated enzyme [Citation82]. … to be discussed are HNF1ß, novel genes for ARPKD …

Expression and Characterization of G-protein Coupled Receptor Proteolytic Site of Polycystic Kidney Disease-1 Gene Product

AM Al-sirhani - 2023 - platform.almanhal.com
… polarity, resulting in the formation of renal cysts. The PKD1 gene mutation accounts for …
(GPS) within polycystin-1, a membrane protein with distinct peptide domains implicated in cell-…

Heterotrimeric G protein signaling in polycystic kidney disease

T Hama, F Park - Physiological genomics, 2016 - journals.physiology.org
… , which encodes the polycystin-1 (PC-1) protein, remain the … by heterotrimeric G proteins or
the identification of novel signaling … activation of membrane-associated exchange protein 1/2 (…

[HTML][HTML] Emerging therapies for autosomal dominant polycystic kidney disease with a focus on cAMP signaling

X Zhou, VE Torres - Frontiers in Molecular Biosciences, 2022 - frontiersin.org
… the encoded proteins (polycystin-1 and polycystin-2). Polycystin 1 is an adhesion type G
protein … HDAC inhibitor alone or the combination of HDAC inhibitor and tolvaptan may be novel

Newly synthesized polycystin‐1 takes different trafficking pathways to the apical and ciliary membranes

AL Gilder, HC Chapin, V Padovano, CL Hueschen… - Traffic, 2018 - Wiley Online Library
protein diffusion into the cilium.54, 55 In the case of RP2, a membrane-associated protein that
… We have developed a novel method that allows us to strip the extracellular, noncovalently …