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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

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

Article PDF–2.5M

Select item 106066083.

A Spanish Family with Gordon Syndrome Due to a Variant in the Acidic Motif of WNK1

Ramón Peces, Carlos Peces, Laura Espinosa, Rocío Mena, Carolina Blanco, Jair Tenorio-Castaño, Pablo Lapunzina, Julián Nevado

Genes (Basel) 2023 Oct; 14(10): 1878. Published online 2023 Sep 27. doi: 10.3390/genes14101878

PMCID:: PMC10606608

Article PDF–919K

Select item 105779374.

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

Article PDF–2.5M

Select item 103626905.

KLHL3-dependent WNK4 degradation affected by potassium through the neddylation and autophagy pathway

Siqi Ying, Qin Guo, Chong Zhang

BMC Nephrol. 2023; 24: 217. Published online 2023 Jul 22. doi: 10.1186/s12882-023-03257-4

PMCID:: PMC10362690

Article PDF–2.6M

Select item 96235416.

Salt-Losing Syndrome in a Girl with Type I and II Pseudohypoaldosteronism

Agnieszka Szmigielska

Am J Case Rep. 2022; 23: e937536-1–e937536-3. Published online 2022 Oct 28. doi: 10.12659/AJCR.937536

Correction in:: Am J Case Rep. 2023; 24: e939846-1.

PMCID:: PMC9623541

Article PDF–279K

Select item 96029357.

Cullin 3 mutant causing familial hyperkalemic hypertension lacks normal activity in the kidney

Yujiro Maeoka, Ryan J. Cornelius, Mohammed Zubaerul Ferdaus, Avika Sharma, Luan T. Nguyen, James A. McCormick

Am J Physiol Renal Physiol. 2022 Nov 1; 323(5): F564–F576. Published online 2022 Aug 26. doi: 10.1152/ajprenal.00153.2022

PMCID:: PMC9602935

Article

Select item 93938318.

A Novel Homozygous KLHL3 Mutation as a Cause of Autosomal Recessive Pseudohypoaldosteronism Type II Diagnosed Late in Life

Annika Etges, Nicole Hellmig, Gudrun Walenda, Bassam G. Haddad, Jan-Philipp Machtens, Thomas Morosan, Lars Christian Rump, Ute I. Scholl

Nephron Clin Pract. 2022 Jul; 146(4): 418–428. Published online 2022 Jan 28. doi: 10.1159/000521626

PMCID:: PMC9393831

Article

Select item 91052359.

Cullin 3 Exon 9 Deletion in Familial Hyperkalemic Hypertension Impairs Cullin3-Ring-E3 Ligase (CRL3) Dynamic Regulation and Cycling

Ilektra Kouranti, Waed Abdel Khalek, Stephani Mazurkiewicz, Irmine Loisel-Ferreira, Alexis M. Gautreau, Lionel Pintard, Xavier Jeunemaitre, Eric Clauser

Int J Mol Sci. 2022 May; 23(9): 5151. Published online 2022 May 5. doi: 10.3390/ijms23095151

PMCID:: PMC9105235

Article PDF–5.8M

Select item 897505610.

Combined Kelch-like 3 and Cullin 3 Degradation is a Central Mechanism in Familial Hyperkalemic Hypertension in Mice

Yujiro Maeoka, Mohammed Z. Ferdaus, Ryan J. Cornelius, Avika Sharma, Xiao-Tong Su, Lauren N. Miller, Joshua A. Robertson, Susan B. Gurley, Chao-Ling Yang, David H. Ellison, James A. McCormick

J Am Soc Nephrol. 2022 Mar; 33(3): 584–600. Published online 2022 Mar. doi: 10.1681/ASN.2021081099

PMCID:: PMC8975056

Article

Select item 866718611.

A Novel CUL3 Variant causing Familial Hyperkalemic Hypertension Impairs Regulation and Function of Ubiquitin Ligase activity

Harish E. Chatrathi, Jason C. Collins, Lynne A. Wolfe, Thomas C. Markello, David R. Adams, William A. Gahl, Achim Werner, Prashant Sharma

Hypertension. Author manuscript; available in PMC 2023 Jan 1.

Published in final edited form as: Hypertension. 2022 Jan; 79(1): 60–75. Published online 2021 Dec 2. doi: 10.1161/HYPERTENSIONAHA.121.17624

PMCID:: PMC8667186

Article PDF–1.6M

Select item 817480912.

Role of KLHL3 and dietary K⁺ in regulating KS-WNK1 expression

Mauricio Ostrosky-Frid, María Chávez-Canales, Jinwei Zhang, Olena Andrukhova, Eduardo R. Argaiz, Fernando Lerdo-de-Tejada, Adrian Murillo-de-Ozores, Andrea Sanchez-Navarro, Lorena Rojas-Vega, Norma A. Bobadilla, Norma Vazquez, María Castañeda-Bueno, Dario R. Alessi, Gerardo Gamba

Am J Physiol Renal Physiol. 2021 May 1; 320(5): F734–F747. Published online 2021 Mar 8. doi: 10.1152/ajprenal.00575.2020

PMCID:: PMC8174809

Article

Select item 814123713.

A case report of pseudohypoaldosteronism type II with a homozygous KLHL3 variant accompanied by hyperthyroidism

Rui Zhang, Simin Zhang, Yingying Luo, Meng Li, Xin Wen, Xiaoling Cai, Xueyao Han, Linong Ji

BMC Endocr Disord. 2021; 21: 103. Published online 2021 May 22. doi: 10.1186/s12902-021-00767-w

PMCID:: PMC8141237

Article PDF–657K

Select item 768573014.

Mutation affecting the conserved acidic WNK1 motif causes inherited hyperkalemic hyperchloremic acidosis

Hélène Louis-Dit-Picard, Ilektra Kouranti, Chloé Rafael, Irmine Loisel-Ferreira, Maria Chavez-Canales, Waed Abdel-Khalek, Eduardo R. Argaiz, Stéphanie Baron, Sarah Vacle, Tiffany Migeon, Richard Coleman, Marcio Do Cruzeiro, Marguerite Hureaux, Nirubiah Thurairajasingam, Stéphane Decramer, Xavier Girerd, Kevin O’Shaugnessy, Paolo Mulatero, Gwenaëlle Roussey, Ivan Tack, Robert Unwin, Rosa Vargas-Poussou, Olivier Staub, Richard Grimm, Paul A. Welling, Gerardo Gamba, Eric Clauser, Juliette Hadchouel, Xavier Jeunemaitre

J Clin Invest. 2020 Dec 1; 130(12): 6379–6394. Published online 2020 Oct 26. doi: 10.1172/JCI94171

PMCID:: PMC7685730

Article PDF–4.5M

Select item 656554515.

A familial case of pseudohypoaldosteronism type II (PHA2) with a novel mutation (D564N) in the acidic motif in WNK4

Takashi Sakoh, Akinari Sekine, Takayasu Mori, Hiroki Mizuno, Masahiro Kawada, Rikako Hiramatsu, Eiko Hasegawa, Noriko Hayami, Masayuki Yamanouchi, Tatsuya Suwabe, Naoki Sawa, Yoshifumi Ubara, Takuya Fujimaru, Eisei Sohara, Uchida Shinichi, Junichi Hoshino, Kenmei Takaichi

Mol Genet Genomic Med. 2019 Jun; 7(6): e705. Published online 2019 May 1. doi: 10.1002/mgg3.705

PMCID:: PMC6565545

Article PDF–311K

Select item 638666116.

Calcineurin dephosphorylates Kelch-like 3, reversing phosphorylation by angiotensin II and regulating renal electrolyte handling

Kenichi Ishizawa, Qin Wang, Jinping Li, Osamu Yamazaki, Yoshifuru Tamura, Yoshihide Fujigaki, Shunya Uchida, Richard P. Lifton, Shigeru Shibata

Proc Natl Acad Sci U S A. 2019 Feb 19; 116(8): 3155–3160. Published online 2019 Feb 4. doi: 10.1073/pnas.1817281116

PMCID:: PMC6386661

Article PDF–1.1M

Select item 575228717.

Mutant Cullin 3 causes familial hyperkalemic hypertension via dominant effects

Mohammed Z. Ferdaus, Lauren N. Miller, Larry N. Agbor, Turgay Saritas, Jeffrey D. Singer, Curt D. Sigmund, James A. McCormick

JCI Insight. 2017 Dec 21; 2(24): e96700. Published online 2017 Dec 21. doi: 10.1172/jci.insight.96700

PMCID:: PMC5752287

Article PDF–1.9M

Select item 535942718.

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

PMCID:: PMC5359427

Article PDF–2.0M

Select item 511150319.

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

Article PDF–1.3M

Select item 434725420.

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

Article PDF–2.0M

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