Correctors of the basic trafficking defect of the mutant F508del-CFTR that causes cystic fibrosis

被引：31

作者：

Birault, Veronique ^{[1
]}

Solari, Roberto ^{[2
]}

Hanrahan, John ^{[3
]}

Thomas, David Y. ^{[4
]}

机构：

[1] GlaxoSmithKline, Resp TA, Stevenage SG1 2NY, Herts, England

[2] Univ London Imperial Coll Sci Technol & Med, Airway Dis Infect Sect, Natl Heart & Lung Inst, London W2 1PG, England

[3] McGill Univ, Dept Physiol, Cyst Fibrosis Translat Res Ctr, Fac Med, Montreal, PQ H3G 1Y6, Canada

[4] McGill Univ, Dept Biochem, Cyst Fibrosis Translat Res Ctr, Fac Med, Montreal, PQ H3G 1Y6, Canada

来源：

CURRENT OPINION IN CHEMICAL BIOLOGY | 2013年 / 17卷 / 03期

基金：

加拿大健康研究院;

关键词：

TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR; MIGLUSTAT; TRANSPORT; COMPOUND; DOMAIN; ER;

D O I：

10.1016/j.cbpa.2013.04.020

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：

Cystic fibrosis (CF) is the most frequent lethal genetic disease and the most frequent mutation is F508del-cystic fibrosis transmembrane regulator (CFTR). In common with some other protein trafficking diseases the mutant protein is functional but recognized by the cellular quality control system retained in the endoplasmic reticulum (ER) and degraded. There have been some recent impressive advances in developing corrector compounds that restore the trafficking of the mutant protein to the plasma membrane. The targets of these correctors and possible mechanisms of action are discussed.

引用

页码：353 / 360

页数：8

共 41 条

[21]

LUKACS GL, 1993, J BIOL CHEM, V268, P21592

[22] Protein quality control in the ER: The recognition of misfolded proteins [J].

Maattanen, Pekka ;

Gehring, Kalle ;

Bergeron, John J. M. ;

Thomas, David Y. .

SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY, 2010, 21 (05) :500-511

[23] Building an understanding of cystic fibrosis on the foundation of ABC transporter structures [J].

Mendoza, Juan L. ;

Thomas, Philip J. .

JOURNAL OF BIOENERGETICS AND BIOMEMBRANES, 2007, 39 (5-6) :499-505

[24] Requirements for Efficient Correction of ΔF508 CFTR Revealed by Analyses of Evolved Sequences [J].

Mendoza, Juan L. ;

Schmidt, Andre ;

Li, Qin ;

Nuvaga, Emmanuel ;

Barrett, Tyler ;

Bridges, Robert J. ;

Feranchak, Andrew P. ;

Brautigam, Chad A. ;

Thomas, Philip J. .

CELL, 2012, 148 (1-2) :164-174

[25]

Micel LN, 2013, J CLIN ONCOL

[26] Functional rescue of F508del-CFTR using small molecule correctors [J].

Molinski, Steven ;

Eckford, Paul D. W. ;

Pasyk, Stan ;

Ahmadi, Saumel ;

Chin, Stephanie ;

Bear, Christine E. .

FRONTIERS IN PHARMACOLOGY, 2012, 3

[27] Parallel improvement of sodium and chloride transport defects by miglustat (n-butyldeoxynojyrimicin) in cystic fibrosis epithelial cells [J].

Noel, Sabrina ;

Wilke, Martina ;

Bot, Alice G. M. ;

De Jonge, Hugo R. ;

Becq, Frederic .

JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS, 2008, 325 (03) :1016-1023

[28] PDE5 inhibitors as potential tools in the treatment of cystic fibrosis [J].

Noel, Sabrina ;

Dhooghe, Barbara ;

Leal, Teresinha .

FRONTIERS IN PHARMACOLOGY, 2012, 3

[29] Pharmacological correctors of mutant CFTR mistrafficking [J].

Pedemonte, Nicoletta ;

Galietta, Luis J. V. .

FRONTIERS IN PHARMACOLOGY, 2012, 3

[30] Correction of Both NBD1 Energetics and Domain Interface Is Required to Restore ΔF508 CFTR Folding and Function [J].

Rabeh, Wael M. ;

Bossard, Florian ;

Xu, Haijin ;

Okiyoneda, Tsukasa ;

Bagdany, Miklos ;

Mulvihill, Cory M. ;

Du, Kai ;

di Bernardo, Salvatore ;

Liu, Yuhong ;

Konermann, Lars ;

Roldan, Ariel ;

Lukacs, Gergely L. .

CELL, 2012, 148 (1-2) :150-163

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