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Items: 1 to 20 of 111

1.

Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.

Boyden LM, Choi M, Choate KA, Nelson-Williams CJ, Farhi A, Toka HR, Tikhonova IR, Bjornson R, Mane SM, Colussi G, Lebel M, Gordon RD, Semmekrot BA, Poujol A, Välimäki MJ, De Ferrari ME, Sanjad SA, Gutkin M, Karet FE, Tucci JR, Stockigt JR, Keppler-Noreuil KM, Porter CC, Anand SK, Whiteford ML, Davis ID, Dewar SB, Bettinelli A, Fadrowski JJ, Belsha CW, Hunley TE, Nelson RD, Trachtman H, Cole TR, Pinsk M, Bockenhauer D, Shenoy M, Vaidyanathan P, Foreman JW, Rasoulpour M, Thameem F, Al-Shahrouri HZ, Radhakrishnan J, Gharavi AG, Goilav B, Lifton RP.

Nature. 2012 Jan 22;482(7383):98-102. doi: 10.1038/nature10814.

2.

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.

Ohta A, Schumacher FR, Mehellou Y, Johnson C, Knebel A, Macartney TJ, Wood NT, Alessi DR, Kurz T.

Biochem J. 2013 Apr 1;451(1):111-22. doi: 10.1042/BJ20121903.

3.

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

Glover M, Ware JS, Henry A, Wolley M, Walsh R, Wain LV, Xu S, Van't Hoff WG, Tobin MD, Hall IP, Cook S, Gordon RD, Stowasser M, O'Shaughnessy KM.

Clin Sci (Lond). 2014 May;126(10):721-6. doi: 10.1042/CS20130326.

4.

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

Shibata S, Zhang J, Puthumana J, Stone KL, Lifton RP.

Proc Natl Acad Sci U S A. 2013 May 7;110(19):7838-43. doi: 10.1073/pnas.1304592110. Epub 2013 Apr 1.

5.

Kelch-like 3/Cullin 3 ubiquitin ligase complex and WNK signaling in salt-sensitive hypertension and electrolyte disorder.

Sohara E, Uchida S.

Nephrol Dial Transplant. 2016 Sep;31(9):1417-24. doi: 10.1093/ndt/gfv259. Epub 2015 Jul 6. Review.

PMID:
26152401
6.

Hyperkalemic hypertension-associated cullin 3 promotes WNK signaling by degrading KLHL3.

McCormick JA, Yang CL, Zhang C, Davidge B, Blankenstein KI, Terker AS, Yarbrough B, Meermeier NP, Park HJ, McCully B, West M, Borschewski A, Himmerkus N, Bleich M, Bachmann S, Mutig K, Argaiz ER, Gamba G, Singer JD, Ellison DH.

J Clin Invest. 2014 Nov;124(11):4723-36. doi: 10.1172/JCI76126. Epub 2014 Sep 24.

7.

Crystal structure of KLHL3 in complex with Cullin3.

Ji AX, Privé GG.

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

8.

Regulation of blood pressure and renal electrolyte balance by Cullin-RING ligases.

Uchida S.

Curr Opin Nephrol Hypertens. 2014 Sep;23(5):487-93. doi: 10.1097/MNH.0000000000000049. Review.

PMID:
24992566
9.

Decrease of WNK4 ubiquitination by disease-causing mutations of KLHL3 through different molecular mechanisms.

Mori Y, Wakabayashi M, Mori T, Araki Y, Sohara E, Rai T, Sasaki S, Uchida S.

Biochem Biophys Res Commun. 2013 Sep 13;439(1):30-4. doi: 10.1016/j.bbrc.2013.08.035. Epub 2013 Aug 17.

PMID:
23962426
10.

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

Schumacher FR, Siew K, Zhang J, Johnson C, Wood N, Cleary SE, Al Maskari RS, Ferryman JT, Hardege I, Yasmin, Figg NL, Enchev R, Knebel A, O'Shaughnessy KM, Kurz T.

EMBO Mol Med. 2015 Oct;7(10):1285-306. doi: 10.15252/emmm.201505444.

11.

Structural and biochemical characterization of the KLHL3-WNK kinase interaction important in blood pressure regulation.

Schumacher FR, Sorrell FJ, Alessi DR, Bullock AN, Kurz T.

Biochem J. 2014 Jun 1;460(2):237-46. doi: 10.1042/BJ20140153.

12.

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

Sasaki E, Susa K, Mori T, Isobe K, Araki Y, Inoue Y, Yoshizaki Y, Ando F, Mori Y, Mandai S, Zeniya M, Takahashi D, Nomura N, Rai T, Uchida S, Sohara E.

Mol Cell Biol. 2017 Mar 17;37(7). pii: e00508-16. doi: 10.1128/MCB.00508-16. Print 2017 Apr 1.

13.

KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron.

Louis-Dit-Picard H, Barc J, Trujillano D, Miserey-Lenkei S, Bouatia-Naji N, Pylypenko O, Beaurain G, Bonnefond A, Sand O, Simian C, Vidal-Petiot E, Soukaseum C, Mandet C, Broux F, Chabre O, Delahousse M, Esnault V, Fiquet B, Houillier P, Bagnis CI, Koenig J, Konrad M, Landais P, Mourani C, Niaudet P, Probst V, Thauvin C, Unwin RJ, Soroka SD, Ehret G, Ossowski S, Caulfield M; International Consortium for Blood Pressure (ICBP), Bruneval P, Estivill X, Froguel P, Hadchouel J, Schott JJ, Jeunemaitre X.

Nat Genet. 2012 Mar 11;44(4):456-60, S1-3. doi: 10.1038/ng.2218. Erratum in: Nat Genet. 2012;44(5):609.

PMID:
22406640
14.

KLHL3 regulates paracellular chloride transport in the kidney by ubiquitination of claudin-8.

Gong Y, Wang J, Yang J, Gonzales E, Perez R, Hou J.

Proc Natl Acad Sci U S A. 2015 Apr 7;112(14):4340-5. doi: 10.1073/pnas.1421441112. Epub 2015 Mar 23.

15.

ROMK expression remains unaltered in a mouse model of familial hyperkalemic hypertension caused by the CUL3Δ403-459 mutation.

Murthy M, Kurz T, O'Shaughnessy KM.

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

16.

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

Wu G, Peng JB.

FEBS Lett. 2013 Jun 19;587(12):1717-22. doi: 10.1016/j.febslet.2013.04.032. Epub 2013 May 9.

17.

Generation and analysis of knock-in mice carrying pseudohypoaldosteronism type II-causing mutations in the cullin 3 gene.

Araki Y, Rai T, Sohara E, Mori T, Inoue Y, Isobe K, Kikuchi E, Ohta A, Sasaki S, Uchida S.

Biol Open. 2015 Oct 21;4(11):1509-17. doi: 10.1242/bio.013276.

18.

Impaired degradation of WNK1 and WNK4 kinases causes PHAII in mutant KLHL3 knock-in mice.

Susa K, Sohara E, Rai T, Zeniya M, Mori Y, Mori T, Chiga M, Nomura N, Nishida H, Takahashi D, Isobe K, Inoue Y, Takeishi K, Takeda N, Sasaki S, Uchida S.

Hum Mol Genet. 2014 Oct 1;23(19):5052-60. doi: 10.1093/hmg/ddu217. Epub 2014 May 12.

PMID:
24821705
19.

Degradation by Cullin 3 and effect on WNK kinases suggest a role of KLHL2 in the pathogenesis of Familial Hyperkalemic Hypertension.

Zhang C, Meermeier NP, Terker AS, Blankenstein KI, Singer JD, Hadchouel J, Ellison DH, Yang CL.

Biochem Biophys Res Commun. 2016 Jan 1;469(1):44-48. doi: 10.1016/j.bbrc.2015.11.067. Epub 2015 Nov 23.

20.

6C.01: CULLIN-3 MUTATIONS LEADING TO SKIPPING OF EXON 9 ARE RESPONSIBLE FOR SEVERE CASES OF FAMILIAL HYPERKALAEMIC HYPERTENSION.

Picard HL, Latreche S, Thurairajasingam N, Auzan C, Fiquet B, Frayssinet R, Garnier A, Jendruchova V, Lobbedez T, Martorell L, Mortier G, Pela I, Taque S, Vargas-Poussou R, Clauser E, Jeunemaitre X.

J Hypertens. 2015 Jun;33 Suppl 1:e79. doi: 10.1097/01.hjh.0000467565.88089.a2.

PMID:
26102933

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