POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2

Literature (8)

Literature for OMIM 613095: POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2

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K homology domains of the mouse polycystic kidney disease-related protein, Bicaudal-C (Bicc1), mediate RNA binding in vitro., Bouvrette DJ,Price SJ,Bryda EC, Nephron Exp Nephrol. January 1, 2008; 108(1):1660-2129.
Polycystin-2 activity is controlled by transcriptional coactivator with PDZ binding motif and PALS1-associated tight junction protein., Duning K,Rosenbusch D,Schlüter MA,Tian Y,Kunzelmann K,Meyer N,Schulze U,Markoff A,Pavenstädt H,Weide T, J Biol Chem. October 29, 2010; 285(44):1083-351X.
Hyperphosphorylation of polycystin-2 at a critical residue in disease reveals an essential role for polycystin-1-regulated dephosphorylation., Peters DJ,Ong AC,Streets AJ,Wessely O, Hum Mol Genet. May 15, 2013; 22(10):1460-2083.
The Sorting Nexin 3 Retromer Pathway Regulates the Cell Surface Localization and Activity of a Wnt-Activated Polycystin Channel Complex., Feng S,Streets AJ,Nesin V,Tran U,Nie H,Onopiuk M,Wessely O,Tsiokas L,Ong ACM, J Am Soc Nephrol. October 1, 2017; 28(10):1533-3450.
Polycystin 1 loss of function is directly linked to an imbalance in G-protein signaling in the kidney., Zhang B,Wessely O,Tran U, Development. March 22, 2018; 145(6):1477-9129.
Hydrophobic pore gates regulate ion permeation in polycystic kidney disease 2 and 2L1 channels., Zheng W,Hu R,Cai R,Hofmann L,Hu Q,Liu X,Bulkley D,Tang J,Flockerzi V,Cao Y,Cao Y,Chen XZ,Yang X,Yu Y,Cao E,Wang Z, Nat Commun. June 13, 2018; 9(1):2041-1723.
A polycystin-2 protein with modified channel properties leads to an increased diameter of renal tubules and to renal cysts., Grosch M,Brunner K,Ilyaskin AV,Schober M,Staudner T,Schmied D,Stumpp T,Schmidt KN,Madej MG,Pessoa TD,Othmen H,Kubitza M,Osten L,de Vries U,Mair MM,Somlo S,Moser M,Kunzelmann K,Ziegler C,Haerteis S,Korbmacher C,Witzgall R, J Cell Sci. August 15, 2021; 134(16):1477-9137.
Disease-associated missense mutations in the pore loop of polycystin-2 alter its ion channel function in a heterologous expression system., Staudner T,Geiges L,Khamseekaew J,Sure F,Korbmacher C,Ilyaskin AV, J Biol Chem. August 14, 2024; 300(8):1083-351X.

K homology domains of the mouse polycystic kidney disease-related protein, Bicaudal-C (Bicc1), mediate RNA binding in vitro., Bouvrette DJ,Price SJ,Bryda EC, Nephron Exp Nephrol. January 1, 2008; 108(1):1660-2129.

Polycystin-2 activity is controlled by transcriptional coactivator with PDZ binding motif and PALS1-associated tight junction protein., Duning K,Rosenbusch D,Schlüter MA,Tian Y,Kunzelmann K,Meyer N,Schulze U,Markoff A,Pavenstädt H,Weide T, J Biol Chem. October 29, 2010; 285(44):1083-351X.

Hyperphosphorylation of polycystin-2 at a critical residue in disease reveals an essential role for polycystin-1-regulated dephosphorylation., Peters DJ,Ong AC,Streets AJ,Wessely O, Hum Mol Genet. May 15, 2013; 22(10):1460-2083.

The Sorting Nexin 3 Retromer Pathway Regulates the Cell Surface Localization and Activity of a Wnt-Activated Polycystin Channel Complex., Feng S,Streets AJ,Nesin V,Tran U,Nie H,Onopiuk M,Wessely O,Tsiokas L,Ong ACM, J Am Soc Nephrol. October 1, 2017; 28(10):1533-3450.

Polycystin 1 loss of function is directly linked to an imbalance in G-protein signaling in the kidney., Zhang B,Wessely O,Tran U, Development. March 22, 2018; 145(6):1477-9129.

Hydrophobic pore gates regulate ion permeation in polycystic kidney disease 2 and 2L1 channels., Zheng W,Hu R,Cai R,Hofmann L,Hu Q,Liu X,Bulkley D,Tang J,Flockerzi V,Cao Y,Cao Y,Chen XZ,Yang X,Yu Y,Cao E,Wang Z, Nat Commun. June 13, 2018; 9(1):2041-1723.

A polycystin-2 protein with modified channel properties leads to an increased diameter of renal tubules and to renal cysts., Grosch M,Brunner K,Ilyaskin AV,Schober M,Staudner T,Schmied D,Stumpp T,Schmidt KN,Madej MG,Pessoa TD,Othmen H,Kubitza M,Osten L,de Vries U,Mair MM,Somlo S,Moser M,Kunzelmann K,Ziegler C,Haerteis S,Korbmacher C,Witzgall R, J Cell Sci. August 15, 2021; 134(16):1477-9137.

Disease-associated missense mutations in the pore loop of polycystin-2 alter its ion channel function in a heterologous expression system., Staudner T,Geiges L,Khamseekaew J,Sure F,Korbmacher C,Ilyaskin AV, J Biol Chem. August 14, 2024; 300(8):1083-351X.