Kelch-like protein 3 in human disease and therapy

被引：2

作者：

Lin, Yan ^{[1
,2
]}

Li, Qian ^{[1
,2
]}

Jin, Xiaofeng ^{[1
,2
]}

机构：

[1] Ningbo Univ, Med Sch, Zhejiang Key Lab Pathophysiol, Dept Biochem & Mol Biol, Ningbo 315211, Peoples R China

[2] Ningbo Univ, Affiliated Hosp, Med Sch, Ningbo 315020, Peoples R China

来源：

MOLECULAR BIOLOGY REPORTS | 2022年 / 49卷 / 10期

关键词：

KLHL3; CUL3; Ubiquitination; GS; Mutation; FAMILIAL HYPERKALEMIC HYPERTENSION; E3 LIGASE COMPLEX; BLOOD-PRESSURE; DIABETES-MELLITUS; GORDON SYNDROME; KLHL3; MUTATIONS; WNK4; PHOSPHORYLATION; UBIQUITINATION;

D O I：

10.1007/s11033-022-07487-x

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Kelch-like protein 3 (KLHL3) is a substrate adaptor of Cullin3-RING ubiquitin ligase (CRL3), and KLHL3-CUL3 complex plays a vital role in the ubiquitination of specific substrates. Mutations and abnormal post-translational modifications of KLHL3-CUL3 affect substrate ubiquitination and may related to the pathogenesis of Gordon syndrome (GS), Primary Hyperparathyroidism (PHPT), Diabetes Mellitus (DM), Congenital Heart Disease (CHD), Pre-eclampsia (PE) and even cancers. Therefore, it is essential to understand the function and molecular mechanisms of KLHL3-CUL3 for the treatment of related diseases. In this review, we summary the structure and function of KLHL3-CUL3, the effect of KLHL3-CUL3 mutations and aberrant modifications in GS, PHPT, DM, CHD and PE. Moreover, we noted a possible role of KLHL3-CUL3 in carcinogenesis and provided ideas for targeting KLHL3-CUL3 for related disease treatment.

引用

页码：9813 / 9824

页数：12

共 106 条

[1] Rare cause of severe hypertension in an adolescent boy presenting with short stature: Answers [J].

Abali, Zehra Yavas ;

Yesil, Gozde ;

Kirkgoz, Tarik ;

Cicek, Neslihan ;

Alpay, Harika ;

Turan, Serap ;

Bereket, Abdullah ;

Guran, Tulay .

PEDIATRIC NEPHROLOGY, 2020, 35 (03) :405-407

[2] The sodium/proton exchanger NHA2 regulates blood pressure through a WNK4-NCC dependent pathway in the kidney [J].

Anderegg, Manuel A. ;

Albano, Giuseppe ;

Hanke, Daniela ;

Deisl, Christine ;

Uehlinger, Dominik E. ;

Brandt, Simone ;

Bhardwaj, Rajesh ;

Hediger, Matthias A. ;

Fuster, Daniel G. .

KIDNEY INTERNATIONAL, 2021, 99 (02) :350-363

[3] Genotype-phenotype correlation in Gordon's syndrome: report of two cases carrying novel heterozygous mutations [J].

Anglani, Franca ;

Salviati, Leonardo ;

Cassina, Matteo ;

Rigato, Matteo ;

Gobbi, Laura ;

Calo, Lorenzo A. .

JOURNAL OF NEPHROLOGY, 2022, 35 (03) :859-862

[4] Regulatory control of the Na-Cl co-transporter NCC and its therapeutic potential for hypertension [J].

Azlan, Nur Farah Meor ;

Koeners, Maarten P. ;

Zhang, Jinwei .

ACTA PHARMACEUTICA SINICA B, 2021, 11 (05) :1117-1128

[5] The Calcium-Sensing Receptor Increases Activity of the Renal NCC through the WNK4-SPAK Pathway [J].

Bazua-Valenti, Silvana ;

Rojas-Vega, Lorena ;

Castaneda-Bueno, Maria ;

Barrera-Chimal, Jonatan ;

Bautista, Rocio ;

Cervantes-Perez, Luz G. ;

Vazquez, Norma ;

Plata, Consuelo ;

Murillo-de-Ozores, Adrian R. ;

Gonzalez-Mariscal, Lorenza ;

Ellison, David H. ;

Riccardi, Daniela ;

Bobadilla, Norma A. ;

Gamba, Gerardo .

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2018, 29 (07) :1838-1848

[6]

Bedard PL, 2020, LANCET, V395, P1078, DOI 10.1016/S0140-6736(20)30164-1

[7] Renal expression of parvalbumin is critical for NaCl handling and response to diuretics [J].

Belge, Hendrica ;

Gailly, Philippe ;

Schwaller, Beat ;

Loffing, Johannes ;

Debaix, Huguette ;

Riveira-Munoz, Eva ;

Beauwens, Renaud ;

Devogelaer, Jean-Pierre ;

Hoenderop, Jocist G. ;

Bindels, Rene J. ;

Devuyst, Olivier .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2007, 104 (37) :14849-14854

[8] Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities [J].

Boyden, Lynn M. ;

Choi, Murim ;

Choate, Keith A. ;

Nelson-Williams, Carol J. ;

Farhi, Anita ;

Toka, Hakan R. ;

Tikhonova, Irina R. ;

Bjornson, Robert ;

Mane, Shrikant M. ;

Colussi, Giacomo ;

Lebel, Marcel ;

Gordon, Richard D. ;

Semmekrot, Ben A. ;

Poujol, Alain ;

Valimaki, Matti J. ;

De Ferrari, Maria E. ;

Sanjad, Sami A. ;

Gutkin, Michael ;

Karet, Fiona E. ;

Tucci, Joseph R. ;

Stockigt, Jim R. ;

Keppler-Noreuil, Kim M. ;

Porter, Craig C. ;

Anand, Sudhir K. ;

Whiteford, Margo L. ;

Davis, Ira D. ;

Dewar, Stephanie B. ;

Bettinelli, Alberto ;

Fadrowski, Jeffrey J. ;

Belsha, Craig W. ;

Hunley, Tracy E. ;

Nelson, Raoul D. ;

Trachtman, Howard ;

Cole, Trevor R. P. ;

Pinsk, Maury ;

Bockenhauer, Detlef ;

Shenoy, Mohan ;

Vaidyanathan, Priya ;

Foreman, John W. ;

Rasoulpour, Majid ;

Thameem, Farook ;

Al-Shahrouri, Hania Z. ;

Radhakrishnan, Jai ;

Gharavi, Ali G. ;

Goilav, Beatrice ;

Lifton, Richard P. .

NATURE, 2012, 482 (7383) :98-U126

[9] Novel CUL3 Variant Causing Familial Hyperkalemic Hypertension Impairs Regulation and Function of Ubiquitin Ligase Activity [J].

Chatrathi, Harish E. ;

Collins, Jason C. ;

Wolfe, Lynne A. ;

Markello, Thomas C. ;

Adams, David R. ;

Gahl, William A. ;

Werner, Achim ;

Sharma, Prashant .

HYPERTENSION, 2022, 79 (01) :60-75

[10] Sensing Extracellular Calcium - An Insight into the Structure and Function of the Calcium-Sensing Receptor (CaSR) [J].

Chavez-Abiega, Sergei ;

Mos, Iris ;

Centeno, Patricia P. ;

Elajnaf, Taha ;

Schlattl, Wolfgang ;

Ward, Donald T. ;

Goedhart, Joachim ;

Kallay, Eniko .

CALCIUM SIGNALING, 2ND EDITION, 2020, 1131 :1031-1063

← 1 2 3 4 5 6 7 8 9 10 →