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Select item 49458361.

ROMK expression remains unaltered in a mouse model of familial hyperkalemic hypertension caused by the CUL3^Δ403‐459 mutation

Meena Murthy, Thimo Kurz, Kevin M. O'Shaughnessy

Physiol Rep. 2016 Jul; 4(13): e12850. Published online 2016 Jul 4. doi: 10.14814/phy2.12850

PMCID:: PMC4945836

Abstract Article PDF–1.1M

Select item 46046842.

Characterisation of the Cullin-3 mutation that causes a severe form of familial hypertension and hyperkalaemia

Frances-Rose Schumacher, Keith Siew, Jinwei Zhang, Clare Johnson, Nicola Wood, Sarah E Cleary, Raya S Al Maskari, James T Ferryman, Iris Hardege, Nichola L Figg, Radoslav Enchev, Axel Knebel, Kevin M O’Shaughnessy, Thimo Kurz

EMBO Mol Med. 2015 Oct; 7(10): 1285–1306. Published online 2015 Aug 18. doi: 10.15252/emmm.201505444

PMCID:: PMC4604684

Abstract Article PDF–2.5M

Select item 105779373.

Insights into the diverse mechanisms and effects of variant CUL3-induced familial hyperkalemic hypertension

Prashant Sharma, Harish E. Chatrathi

Cell Commun Signal. 2023; 21: 286. Published online 2023 Oct 16. doi: 10.1186/s12964-023-01269-z

PMCID:: PMC10577937

Abstract Article PDF–2.5M

Select item 32786684.

Mutations in Kelch-like 3 and Cullin 3 cause hypertension and electrolyte abnormalities

Lynn M. Boyden, Murim Choi, Keith A. Choate, Carol J. Nelson-Williams, Anita Farhi, Hakan R. Toka, Irina R. Tikhonova, Robert Bjornson, Shrikant M. Mane, Giacomo Colussi, Marcel Lebel, Richard D. Gordon, Ben A. Semmekrot, Alain Poujol, Matti J. Välimäki, Maria E. De Ferrari, Sami A. Sanjad, Michael Gutkin, Fiona E. Karet, Joseph R. Tucci, Jim R. Stockigt, Kim M. Keppler-Noreuil, Craig C. Porter, Sudhir K. Anand, Margo L. Whiteford, Ira D. Davis, Stephanie B. Dewar, Alberto Bettinelli, Jeffrey J. Fadrowski, Craig W. Belsha, Tracy E. Hunley, Raoul D. Nelson, Howard Trachtman, Trevor R. P. Cole, Maury Pinsk, Detlef Bockenhauer, Mohan Shenoy, Priya Vaidyanathan, John W. Foreman, Majid Rasoulpour, Farook Thameem, Hania Z. Al-Shahrouri, Jai Radhakrishnan, Ali G. Gharavi, Beatrice Goilav, Richard P. Lifton

Nature. Author manuscript; available in PMC 2012 Aug 2.

Published in final edited form as: Nature. 2012 Feb 2; 482(7383): 98–102. Published online 2012 Jan 22. doi: 10.1038/nature10814

PMCID:: PMC3278668

Abstract Article PDF–1.0M

Select item 36161225.

Crystal Structure of KLHL3 in Complex with Cullin3

Alan X. Ji, Gilbert G. Privé

PLoS One. 2013; 8(4): e60445. Published online 2013 Apr 3. doi: 10.1371/journal.pone.0060445

PMCID:: PMC3616122

Abstract Article PDF–1.7M

Select item 36320896.

The CUL3–KLHL3 E3 ligase complex mutated in Gordon's hypertension syndrome interacts with and ubiquitylates WNK isoforms: disease-causing mutations in KLHL3 and WNK4 disrupt interaction

Akihito Ohta, Frances-Rose Schumacher, Youcef Mehellou, Clare Johnson, Axel Knebel, Thomas J. Macartney, Nicola T. Wood, Dario R. Alessi, Thimo Kurz

Biochem J. 2013 Apr 1; 451(Pt 1): 111–122. Prepublished online 2013 Feb 6. Published online 2013 Mar 14. doi: 10.1042/BJ20121903

PMCID:: PMC3632089

Abstract Article PDF–1.3M

Select item 36515027.

Kelch-like 3 and Cullin 3 regulate electrolyte homeostasis via ubiquitination and degradation of WNK4

Shigeru Shibata, Junhui Zhang, Jeremy Puthumana, Kathryn L. Stone, Richard P. Lifton

Proc Natl Acad Sci U S A. 2013 May 7; 110(19): 7838–7843. Published online 2013 Apr 1. doi: 10.1073/pnas.1304592110

PMCID:: PMC3651502

Abstract Article PDF–1.1M

Select item 36977658.

Disease-causing mutations in KLHL3 impair its effect on WNK4 degradation

Guojin Wu, Ji-Bin Peng

FEBS Lett. Author manuscript; available in PMC 2014 Jun 19.

Published in final edited form as: FEBS Lett. 2013 Jun 19; 587(12): 1717–1722. Published online 2013 May 9. doi: 10.1016/j.febslet.2013.04.032

PMCID:: PMC3697765

Abstract Article PDF–2.2M

Select item 37337499.

A young child with pseudohypoaldosteronism type II by a mutation of Cullin 3

Shoji Tsuji, Miyoko Yamashita, Gen Unishi, Reiko Takewa, Takahisa Kimata, Kiyoshi Isobe, Motoko Chiga, Shinichi Uchida, Kazunari Kaneko

BMC Nephrol. 2013; 14: 166. Published online 2013 Jul 31. doi: 10.1186/1471-2369-14-166

PMCID:: PMC3733749

Abstract Article PDF–590K

Select item 396352110.

Detection of mutations in KLHL3 and CUL3 in families with FHHt (familial hyperkalaemic hypertension or Gordon's syndrome)

Mark Glover, James S. Ware, Amanda Henry, Martin Wolley, Roddy Walsh, Louise V. Wain, Shengxin Xu, William G. Van’t Hoff, Martin D. Tobin, Ian P. Hall, Stuart Cook, Richard D. Gordon, Michael Stowasser, Kevin M. O’Shaughnessy

Clin Sci (Lond) 2014 May 1; 126(Pt 10): 721–726. Prepublished online 2013 Nov 25. Published online 2014 Feb 3. doi: 10.1042/CS20130326

PMCID:: PMC3963521

Abstract Article PDF–902K

Select item 416299811.

Regulation of with-no-lysine kinase signaling by Kelch-like proteins

Shinichi Uchida, Eisei Sohara, Tatemitsu Rai, Sei Sasaki

Biol Cell. 2014 Feb; 106(2): 45–56. Published online 2013 Dec 8. doi: 10.1111/boc.201300069

PMCID:: PMC4162998

Abstract Article PDF–662K

Select item 434725412.

Hyperkalemic hypertension–associated cullin 3 promotes WNK signaling by degrading KLHL3

James A. McCormick, Chao-Ling Yang, Chong Zhang, Brittney Davidge, Katharina I. Blankenstein, Andrew S. Terker, Bethzaida Yarbrough, Nicholas P. Meermeier, Hae J. Park, Belinda McCully, Mark West, Aljona Borschewski, Nina Himmerkus, Markus Bleich, Sebastian Bachmann, Kerim Mutig, Eduardo R. Argaiz, Gerardo Gamba, Jeffrey D. Singer, David H. Ellison

J Clin Invest. 2014 Nov 3; 124(11): 4723–4736. Published online 2014 Sep 24. doi: 10.1172/JCI76126

PMCID:: PMC4347254

Abstract Article PDF–2.0M

Select item 511150313.

Cullin-3 mutation causes arterial stiffness and hypertension through a vascular smooth muscle mechanism

Larry N. Agbor, Stella-Rita C. Ibeawuchi, Chunyan Hu, Jing Wu, Deborah R. Davis, Henry L. Keen, Frederick W. Quelle, Curt D. Sigmund

JCI Insight. 2016 Nov 17; 1(19): e91015. Published online 2016 Nov 17. doi: 10.1172/jci.insight.91015

PMCID:: PMC5111503

Abstract Article PDF–1.3M

Select item 535942714.

KLHL3 Knockout Mice Reveal the Physiological Role of KLHL3 and the Pathophysiology of Pseudohypoaldosteronism Type II Caused by Mutant KLHL3

Emi Sasaki, Koichiro Susa, Takayasu Mori, Kiyoshi Isobe, Yuya Araki, Yuichi Inoue, Yuki Yoshizaki, Fumiaki Ando, Yutaro Mori, Shintaro Mandai, Moko Zeniya, Daiei Takahashi, Naohiro Nomura, Tatemitsu Rai, Shinichi Uchida, Eisei Sohara

Mol Cell Biol. 2017 Apr 1; 37(7): e00508-16. Prepublished online 2017 Jan 4. Published online 2017 Mar 17. doi: 10.1128/MCB.00508-16