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Loss of cilia suppresses cyst growth in genetic models of autosomal dominant polycystic kidney disease

Stefan Somlo and colleagues show that loss of intact cilia suppresses cyst growth in genetic models of autosomal dominant polycystic kidney disease (ADPKD). They further show that the severity of cystic disease in these models is directly related to the length of time between the initial loss of polycystins and the subsequent involution of cilia, implicating a cilia-dependent cyst growth–promoting pathway in the pathogenesis of ADPKD.

Ming Ma
Xin Tian
Stefan Somlo
Research28 Jul 2013
Nature Genetics

Volume: 45, P: 1004-1012
A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation

Stefan Somlo and colleagues show that the polycystic liver disease genes Prkcsh and Sec63 are required for the proper biogenesis of polycystin complexes. They further show that a Pkd1 transgene can rescue the cystic phenotype of Prkcsh and Sec63 mutant mice, identifying polycystin-1 as the central determinant of cyst formation.

Sorin V Fedeles
Xin Tian
Stefan Somlo
Research19 Jun 2011
Nature Genetics

Volume: 43, P: 639-647
Mutations in SEC63 cause autosomal dominant polycystic liver disease

Sonia Davila
Laszlo Furu
Stefan Somlo
Research09 May 2004
Nature Genetics

Volume: 36, P: 575-577
Cardiac defects and renal failure in mice with targeted mutations in Pkd2

Guanqing Wu
Glen S. Markowitz
Stefan Somlo
Research01 Jan 2000
Nature Genetics

Volume: 24, P: 75-78
Glis2 is an early effector of polycystin signaling and a target for therapy in polycystic kidney disease

Cyst growth in autosomal dominant polycystic kidney disease (ADPKD) is driven by unknown molecular signals that require the presence of intact primary cilia in the absence of the PKD gene products. Here, the authors show that the transcription factor Glis2 is a key effector of this cilia dependent cyst growth pathway and a potential target for therapy in ADPKD

Chao Zhang
Michael Rehman
Stefan Somlo
ResearchOpen Access01 May 2024
Nature Communications

Volume: 15, P: 1-19
PKD1 interacts with PKD2 through a probable coiled-coil domain

Feng Qian
F. Joseph Germino
Gregory G. Germino
Research01 Jun 1997
Nature Genetics

Volume: 16, P: 179-183
Renal plasticity revealed through reversal of polycystic kidney disease in mice

Re-expression of Pkd genes in cystic kidneys results in rapid reversal of autosomal dominant polycystic kidney disease phenotypes in mice, revealing an unexpected capacity for renal plasticity under the control of Pkd gene function.

Ke Dong
Chao Zhang
Stefan Somlo
Research11 Oct 2021
Nature Genetics

Volume: 53, P: 1649-1663
Genomic structure of the gene for the human P1 protein (MCM3) and its exclusion as a candidate for autosomal recessive polycystic kidney disease

Yvonne Hofmann
Jutta Becker
Luiz F Onuchic
Research17 May 2000
European Journal of Human Genetics

Volume: 8, P: 163-166
Polycystin-2 is an intracellular calcium release channel

Peter Koulen
Yiqiang Cai
Stefan Somlo
Research18 Feb 2002
Nature Cell Biology

Volume: 4, P: 191-197
Effective treatment of an orthologous model of autosomal dominant polycystic kidney disease

Vicente E Torres
Xiaofang Wang
Vincent H Gattone II
Research29 Feb 2004
Nature Medicine

Volume: 10, P: 363-364
Getting a foothold in nephrotic syndrome

The podocyte is a highly specialized kidney cell that is essential to the ultrafiltration of blood, resulting in the extraction of urine and the retention of protein. Four studies, the most recent of which is published in this issue of Nature Genetics, indicate its critical role in the pathology of nephrotic syndrome.

Stefan Somlo
Peter Mundel
News & Views01 Apr 2000
Nature Genetics

Volume: 24, P: 333-335
Mating, channels and kidney cysts

People with mutations in either of two proteins known as polycystin-1 and polycystin-2 develop polycystic kidney disease. Studies on the nematode worm and the frogXenopus laevisare now helping researchers to work out the normal functions of these proteins. It seems that polycystin-1-related proteins act as receptors, which regulate the activity of channels containing polycystin-2-related proteins.

Scott W. Emmons
Stefan Somlo
News & Views23 Sept 1999
Nature

Volume: 401, P: 339-340
The C-terminal tail of polycystin-1 suppresses cystic disease in a mitochondrial enzyme-dependent fashion

Mutations in the gene encoding PC1 cause ADPKD, a common genetic renal disease. Here, the authors show that expression of the C-terminal 200 amino acids of the large PC1 protein in mouse models of ADPKD suppresses cystic disease through an interaction with the mitochondrial enzyme NNT.

Laura Onuchic
Valeria Padovano
Michael J. Caplan
ResearchOpen Access30 Mar 2023
Nature Communications

Volume: 14, P: 1-20
A 1 Mb BAC/PAC-Based Physical Map for Positional Cloning of the Gene for Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Mehul Dixit
Jong Hoon Park
Stefan Somlo
Research01 Apr 1999
Pediatric Research

Volume: 45, P: 330
mTORC1-mediated inhibition of polycystin-1 expression drives renal cyst formation in tuberous sclerosis complex

Polycystic kidney disease (PKD) is a ciliopathy resulting from defective localization of membrane proteins such as PC-1 to the primary cilium, resulting in renal cysts, and is associated with another cystic genetic disease called tuberous sclerosis complex (TSC). Here the authors use kidney-specific Tsc1 and Pkd1 mice to show that mTORC1 signalling inhibits PC-1 biogenesis as a potential mechanism of TSC/PKD contiguous gene syndrome.

Monika Pema
Luca Drusian
Alessandra Boletta
ResearchOpen Access02 Mar 2016
Nature Communications

Volume: 7, P: 1-11
Analysis of published PKD1 gene sequence variants

Alexander M Gout
Peter C Harris
David Ravine
Correspondence01 Apr 2007
Nature Genetics

Volume: 39, P: 427-428

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Loss of cilia suppresses cyst growth in genetic models of autosomal dominant polycystic kidney disease

A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation

Mutations in SEC63 cause autosomal dominant polycystic liver disease

Cardiac defects and renal failure in mice with targeted mutations in Pkd2

Glis2 is an early effector of polycystin signaling and a target for therapy in polycystic kidney disease

PKD1 interacts with PKD2 through a probable coiled-coil domain

Renal plasticity revealed through reversal of polycystic kidney disease in mice

Genomic structure of the gene for the human P1 protein (MCM3) and its exclusion as a candidate for autosomal recessive polycystic kidney disease

Polycystin-2 is an intracellular calcium release channel

Effective treatment of an orthologous model of autosomal dominant polycystic kidney disease

Getting a foothold in nephrotic syndrome

Mating, channels and kidney cysts

The C-terminal tail of polycystin-1 suppresses cystic disease in a mitochondrial enzyme-dependent fashion

A 1 Mb BAC/PAC-Based Physical Map for Positional Cloning of the Gene for Autosomal Recessive Polycystic Kidney Disease (ARPKD)

mTORC1-mediated inhibition of polycystin-1 expression drives renal cyst formation in tuberous sclerosis complex

Analysis of published PKD1 gene sequence variants

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