Tuberin-dependent membrane localization of polycystin-1: a functional link between polycystic kidney disease and the TSC2 tumor suppressor gene

Molecular Cell
E KleymenovaC Walker

Abstract

The PKD1 gene accounts for 85% of autosomal dominant polycystic kidney disease (ADPKD), the most common human genetic disorder. Rats with a germline inactivation of one allele of the Tsc2 tumor suppressor gene developed early onset severe bilateral polycystic kidney disease, with similarities to the human contiguous gene syndrome caused by germline codeletion of PKD1 and TSC2 genes. Polycystic rat renal cells retained two normal Pkd1 alleles but were null for Tsc2 and exhibited loss of lateral membrane-localized polycystin-1. In tuberin-deficient cells, intracellular trafficking of polycystin-1 was disrupted, resulting in sequestration of polycystin-1 within the Golgi and reexpression of Tsc2 restored correct polycystin-1 membrane localization. These data identify tuberin as a determinant of polycystin-1 functional localization and, potentially, ADPKD severity.

References

Oct 1, 1992·The Journal of Cell Biology·S A Wood, W J Brown
Feb 1, 1990·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·J J Grantham
Oct 24, 1995·Proceedings of the National Academy of Sciences of the United States of America·B LeitingerM Spiess
Sep 1, 1995·Molecular Carcinogenesis·R S YeungC L Walker
Jul 7, 1995·The Journal of Biological Chemistry·R WieneckeJ E DeClue
Nov 22, 1994·Proceedings of the National Academy of Sciences of the United States of America·R S YeungA G Knudson
Aug 1, 1993·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·J Bernstein
Jan 1, 1993·Proceedings of the National Academy of Sciences of the United States of America·O HinoA G Knudson
Feb 20, 1996·Proceedings of the National Academy of Sciences of the United States of America·C J WardP C Harris
Jun 10, 1997·Proceedings of the National Academy of Sciences of the United States of America·O Ibraghimov-BeskrovnayaK W Klinger
Oct 23, 1997·American Journal of Human Genetics·J R SampsonP C Harris
Jan 1, 1997·Contributions to Nephrology·P C Harris
Sep 23, 1998·Molecular Medicine Today·J Young, S Povey
Dec 23, 1998·Proceedings of the National Academy of Sciences of the United States of America·G RennebeckC L Walker
Dec 23, 1998·Proceedings of the National Academy of Sciences of the United States of America·T SoucekM Hengstschläger
Feb 13, 1999·The Journal of Biological Chemistry·E KimG Walz
Jul 3, 1999·Science·B B Allan, W E Balch
Aug 10, 1999·The Journal of Pathology·D J PetersE de Heer
Nov 24, 1999·The Journal of Clinical Investigation·Y Huan, J van Adelsberg
Mar 4, 2000·Proceedings of the National Academy of Sciences of the United States of America·K KimM A Arnaout
Feb 15, 2001·Chemical Research in Toxicology·S S LauC L Walker

❮ Previous
Next ❯

Citations

Nov 1, 2002·Radiology·Keith A CasperJohn J Bissler
Mar 29, 2006·Proceedings of the National Academy of Sciences of the United States of America·Keith E Mostov
Mar 17, 2006·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Audrey C WoernerHope Northrup
Aug 25, 2006·Journal of the American Society of Nephrology : JASN·Laurie A SmithOxana Ibraghimov-Beskrovnaya
Apr 17, 2008·Pediatric Radiology·Henry J Baskin
Jan 22, 2010·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·John J BisslerHong Yin
Jan 28, 2012·Science·Jeong Ho LeeJoseph G Gleeson
Jun 25, 2014·Molecular and Cellular Biology·Almira KurbegovicFeng Qian
Aug 29, 2019·American Journal of Physiology. Renal Physiology·Leslie S GewinSusan M Majka
Mar 7, 2002·American Journal of Physiology. Lung Cellular and Molecular Physiology·Carla IraniVera P Krymskaya
Jan 14, 2004·Molecular Biology of the Cell·Tamara RoitbakAngela Wandinger-Ness
Oct 21, 2003·Genes, Chromosomes & Cancer·Raymond S Yeung
May 1, 2002·Current Opinion in Nephrology and Hypertension·Peter C Harris
Sep 10, 2005·Toxicological Sciences : an Official Journal of the Society of Toxicology·Todd M KolbMyrtle A Davis
Nov 3, 2007·Cellular and Molecular Life Sciences : CMLS·O Ibraghimov-Beskrovnaya, N Bukanov
Jun 2, 2007·Journal of Cellular Biochemistry·Elena A Goncharova, Vera P Krymskaya
Dec 5, 2008·Proceedings of the National Academy of Sciences of the United States of America·Boyi GanRonald A DePinho
Jul 4, 2009·Annual Review of Physiology·Jing Zhou
Nov 17, 2010·The Journal of Cell Biology·Hannah C Chapin, Michael J Caplan
Oct 25, 2001·Science's STKE : Signal Transduction Knowledge Environment·J MontagneG Thomas
Oct 21, 2003·Genes, Chromosomes & Cancer·Cheryl Lyn WalkerJeffery I Everitt
Jan 31, 2003·Annals of Human Genetics·D J Kwiatkowski
May 17, 2005·Pflügers Archiv : European journal of physiology·Michael Köttgen, Gerd Walz
Nov 18, 2006·Canadian Journal of Physiology and Pharmacology·Fang LiXing-Zhen Chen
Apr 22, 2005·Human Molecular Genetics·Qiang LiXing-Zhen Chen
Apr 28, 2005·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Elizabeth Petri Henske
Nov 15, 2008·Human Molecular Genetics·Linda M DiBellaZhaoxia Sun
Jan 5, 2007·The New England Journal of Medicine·Petrus J de Vries, Penny A Prather
Mar 29, 2006·Proceedings of the National Academy of Sciences of the United States of America·Jonathan M ShillingfordThomas Weimbs
Aug 24, 2007·American Journal of Physiology. Renal Physiology·Thomas Weimbs
Nov 24, 2007·Drugs·Amirali MasoumiRobert W Schrier
Mar 20, 2010·Lymphatic Research and Biology·Thomas N DarlingJoel Moss
Oct 30, 2016·Human Molecular Genetics·Sandra HakimChristina A Mitchell
Oct 3, 2001·The Journal of Biological Chemistry·G M XuM A Arnaout

❮ Previous
Next ❯

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