Publications:

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Acting on the CFTR Membrane-Spanning Domains Interface Rescues Some Misfolded Mutants.

International Journal Of Molecular Sciences

Baatallah, Nesrine N; Elbahnsi, Ahmad A; Chevalier, Benoit B; Castanier, Solène S; Mornon, Jean-Paul JP; Pranke, Iwona I; Edelman, Aleksander A; Sermet-Gaudelus, Isabelle I; Callebaut, Isabelle I; Hinzpeter, Alexandre A

Publication Date: 2022-12-19

Variant appearance in text: CFTR: V510D

PubMed Link: 36555865

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• ijms-23-16225.pdf

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Structural Comparative Modeling of Multi-Domain F508del CFTR.

Biomolecules

McDonald, Eli Fritz EF; Woods, Hope H; Smith, Shannon T ST; Kim, Minsoo M; Schoeder, Clara T CT; Plate, Lars L; Meiler, Jens J

Publication Date: 2022-03-18

Variant appearance in text: CFTR: V510D

PubMed Link: 35327663

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• biomolecules-12-00471.pdf

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Can two wrongs make a right? F508del-CFTR ion channel rescue by second-site mutations in its transmembrane domains.

The Journal Of Biological Chemistry

Prins, Stella S; Corradi, Valentina V; Sheppard, David N DN; Tieleman, D Peter DP; Vergani, Paola P

Publication Date: 2022-03

Variant appearance in text: CFTR: V510D

PubMed Link: 35065958

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Full Rescue of F508del-CFTR Processing and Function by CFTR Modulators Can Be Achieved by Removal of Two Regulatory Regions.

International Journal Of Molecular Sciences

Uliyakina, Inna I; Botelho, Hugo M HM; da Paula, Ana C AC; Afonso, Sara S; Lobo, Miguel J MJ; Felício, Verónica V; Farinha, Carlos M CM; Amaral, Margarida D MD

Publication Date: 2020-06-25

Variant appearance in text: CFTR: V510D

PubMed Link: 32630527

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• ijms-21-04524.pdf

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A Proteomic Variant Approach (ProVarA) for Personalized Medicine of Inherited and Somatic Disease.

Journal Of Molecular Biology

Hutt, Darren M DM; Loguercio, Salvatore S; Campos, Alexandre Rosa AR; Balch, William E WE

Publication Date: 2018-09-14

Variant appearance in text: CFTR: V510D

PubMed Link: 29924966

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Structural stability of purified human CFTR is systematically improved by mutations in nucleotide binding domain 1.

Biochimica Et Biophysica Acta. Biomembranes

Yang, Zhengrong Z; Hildebrandt, Ellen E; Jiang, Fan F; Aleksandrov, Andrei A AA; Khazanov, Netaly N; Zhou, Qingxian Q; An, Jianli J; Mezzell, Andrew T AT; Xavier, Bala M BM; Ding, Haitao H; Riordan, John R JR; Senderowitz, Hanoch H; Kappes, John C JC; Brouillette, Christie G CG; Urbatsch, Ina L IL

Publication Date: 2018-05

Variant appearance in text: CFTR: V510D

PubMed Link: 29425673

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Chaperones rescue the energetic landscape of mutant CFTR at single molecule and in cell.

Nature Communications

Bagdany, Miklos M; Veit, Guido G; Fukuda, Ryosuke R; Avramescu, Radu G RG; Okiyoneda, Tsukasa T; Baaklini, Imad I; Singh, Jay J; Sovak, Guy G; Xu, Haijin H; Apaja, Pirjo M PM; Sattin, Sara S; Beitel, Lenore K LK; Roldan, Ariel A; Colombo, Giorgio G; Balch, William W; Young, Jason C JC; Lukacs, Gergely L GL

Publication Date: 2017-08-30

Variant appearance in text: CFTR: V510D

PubMed Link: 28855508

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• 41467_2017_444_MOESM1_ESM.pdf

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Activation of 3-phosphoinositide-dependent kinase 1 (PDK1) and serum- and glucocorticoid-induced protein kinase 1 (SGK1) by short-chain sphingolipid C4-ceramide rescues the trafficking defect of ΔF508-cystic fibrosis transmembrane conductance regulator (ΔF508-CFTR).

The Journal Of Biological Chemistry

Caohuy, Hung H; Yang, Qingfeng Q; Eudy, Yvonne Y; Ha, Thien-An TA; Xu, Andrew E AE; Glover, Matthew M; Frizzell, Raymond A RA; Jozwik, Catherine C; Pollard, Harvey B HB

Publication Date: 2014-12-26

Variant appearance in text: CFTR: V510D

PubMed Link: 25384981

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Some gating potentiators, including VX-770, diminish ΔF508-CFTR functional expression.

Science Translational Medicine

Veit, Guido G; Avramescu, Radu G RG; Perdomo, Doranda D; Phuan, Puay-Wah PW; Bagdany, Miklos M; Apaja, Pirjo M PM; Borot, Florence F; Szollosi, Daniel D; Wu, Yu-Sheng YS; Finkbeiner, Walter E WE; Hegedus, Tamas T; Verkman, Alan S AS; Lukacs, Gergely L GL

Publication Date: 2014-07-23

Variant appearance in text: CFTR: V510D

PubMed Link: 25101887

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Restoration of NBD1 thermal stability is necessary and sufficient to correct ∆F508 CFTR folding and assembly.

Journal Of Molecular Biology

He, Lihua L; Aleksandrov, Andrei A AA; An, Jianli J; Cui, Liying L; Yang, Zhengrong Z; Brouillette, Christie G CG; Riordan, John R JR

Publication Date: 2015-01-16

Variant appearance in text: CFTR: V510D

PubMed Link: 25083918

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Directed evolution of P-glycoprotein cysteines reveals site-specific, non-conservative substitutions that preserve multidrug resistance.

Bioscience Reports

Swartz, Douglas J DJ; Mok, Leo L; Botta, Sri K SK; Singh, Anukriti A; Altenberg, Guillermo A GA; Urbatsch, Ina L IL

Publication Date: 2014-06-25

Variant appearance in text: CFTR: V510D

PubMed Link: 24825346

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The role of the cytosolic HSP70 chaperone system in diseases caused by misfolding and aberrant trafficking of ion channels.

Disease Models & Mechanisms

Young, Jason C JC

Publication Date: 2014-03

Variant appearance in text: CFTR: V510D

PubMed Link: 24609033

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Revertant mutants modify, but do not rescue, the gating defect of the cystic fibrosis mutant G551D-CFTR.

The Journal Of Physiology

Xu, Zhe Z; Pissarra, Luísa S LS; Farinha, Carlos M CM; Liu, Jia J; Cai, Zhiwei Z; Thibodeau, Patrick H PH; Amaral, Margarida D MD; Sheppard, David N DN

Publication Date: 2014-05-01

Variant appearance in text: CFTR: V510D

PubMed Link: 24591578

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Allosteric coupling between the intracellular coupling helix 4 and regulatory sites of the first nucleotide-binding domain of CFTR.

Plos One

Dawson, Jennifer E JE; Farber, Patrick J PJ; Forman-Kay, Julie D JD

Publication Date: 2013

Variant appearance in text: CFTR: V510D

PubMed Link: 24058550

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VX-809 corrects folding defects in cystic fibrosis transmembrane conductance regulator protein through action on membrane-spanning domain 1.

Molecular Biology Of The Cell

Ren, Hong Yu HY; Grove, Diane E DE; De La Rosa, Oxana O; Houck, Scott A SA; Sopha, Pattarawut P; Van Goor, Fredrick F; Hoffman, Beth J BJ; Cyr, Douglas M DM

Publication Date: 2013-10

Variant appearance in text: CFTR: V510D

PubMed Link: 23924900

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Mechanism-based corrector combination restores ΔF508-CFTR folding and function.

Nature Chemical Biology

Okiyoneda, Tsukasa T; Veit, Guido G; Dekkers, Johanna F JF; Bagdany, Miklos M; Soya, Naoto N; Xu, Haijin H; Roldan, Ariel A; Verkman, Alan S AS; Kurth, Mark M; Simon, Agnes A; Hegedus, Tamas T; Beekman, Jeffrey M JM; Lukacs, Gergely L GL

Publication Date: 2013-07

Variant appearance in text: CFTR: V510D

PubMed Link: 23666117

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Dynamics intrinsic to cystic fibrosis transmembrane conductance regulator function and stability.

Cold Spring Harbor Perspectives In Medicine

Chong, P Andrew PA; Kota, Pradeep P; Dokholyan, Nikolay V NV; Forman-Kay, Julie D JD

Publication Date: 2013-03-01

Variant appearance in text: CFTR: V510D

PubMed Link: 23457292

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Cystic fibrosis transmembrane conductance regulator (ABCC7) structure.

Cold Spring Harbor Perspectives In Medicine

Hunt, John F JF; Wang, Chi C; Ford, Robert C RC

Publication Date: 2013-02-01

Variant appearance in text: CFTR: V510D

PubMed Link: 23378596

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Correctors of ΔF508 CFTR restore global conformational maturation without thermally stabilizing the mutant protein.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology

He, Lihua L; Kota, Pradeep P; Aleksandrov, Andrei A AA; Cui, Liying L; Jensen, Tim T; Dokholyan, Nikolay V NV; Riordan, John R JR

Publication Date: 2013-02

Variant appearance in text: CFTR: V510D

PubMed Link: 23104983

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Functional Rescue of F508del-CFTR Using Small Molecule Correctors.

Frontiers In Pharmacology

Molinski, Steven S; Eckford, Paul D W PD; Pasyk, Stan S; Ahmadi, Saumel S; Chin, Stephanie S; Bear, Christine E CE

Publication Date: 2012

Variant appearance in text: CFTR: V510D

PubMed Link: 23055971

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• Main text
• fphar-03-00160.pdf

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Integrated analysis of residue coevolution and protein structure in ABC transporters.

Plos One

Gulyás-Kovács, Attila A

Publication Date: 2012

Variant appearance in text: CFTR: v510d

PubMed Link: 22590562

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• pone.0036546.pdf

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Allosteric modulation balances thermodynamic stability and restores function of ΔF508 CFTR.

Journal Of Molecular Biology

Aleksandrov, Andrei A AA; Kota, Pradeep P; Cui, Liying L; Jensen, Tim T; Alekseev, Alexey E AE; Reyes, Santiago S; He, Lihua L; Gentzsch, Martina M; Aleksandrov, Luba A LA; Dokholyan, Nikolay V NV; Riordan, John R JR

Publication Date: 2012-05-25

Variant appearance in text: CFTR: V510D

PubMed Link: 22406676

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Correction of both NBD1 energetics and domain interface is required to restore ΔF508 CFTR folding and function.

Cell

Rabeh, Wael M WM; Bossard, Florian F; Xu, Haijin H; Okiyoneda, Tsukasa T; Bagdany, Miklos M; Mulvihill, Cory M CM; Du, Kai K; di Bernardo, Salvatore S; Liu, Yuhong Y; Konermann, Lars L; Roldan, Ariel A; Lukacs, Gergely L GL

Publication Date: 2012-01-20

Variant appearance in text: CFTR: V510D

PubMed Link: 22265408

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CFTR: folding, misfolding and correcting the ΔF508 conformational defect.

Trends In Molecular Medicine

Lukacs, Gergely L GL; Verkman, A S AS

Publication Date: 2012-02

Variant appearance in text: CFTR: Val510Asp

PubMed Link: 22138491

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Disruption of cytokeratin-8 interaction with F508del-CFTR corrects its functional defect.

Human Molecular Genetics

Colas, Julien J; Faure, Grazyna G; Saussereau, Emilie E; Trudel, Stéphanie S; Rabeh, Wael M WM; Bitam, Sara S; Guerrera, Ida Chiara IC; Fritsch, Janine J; Sermet-Gaudelus, Isabelle I; Davezac, Noëlie N; Brouillard, Franck F; Lukacs, Gergely L GL; Herrmann, Harald H; Ollero, Mario M; Edelman, Aleksander A

Publication Date: 2012-02-01

Variant appearance in text: CFTR: V510D

PubMed Link: 22038833

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Benzbromarone stabilizes ΔF508 CFTR at the cell surface.

Biochemistry

Loo, Tip W TW; Bartlett, M Claire MC; Clarke, David M DM

Publication Date: 2011-05-31

Variant appearance in text: CFTR: V510D

PubMed Link: 21520952

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The endoplasmic reticulum-associated Hsp40 DNAJB12 and Hsc70 cooperate to facilitate RMA1 E3-dependent degradation of nascent CFTRDeltaF508.

Molecular Biology Of The Cell

Grove, Diane E DE; Fan, Chun-Yang CY; Ren, Hong Yu HY; Cyr, Douglas M DM

Publication Date: 2011-02-01

Variant appearance in text: CFTR: V510D

PubMed Link: 21148293

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Integrated biophysical studies implicate partial unfolding of NBD1 of CFTR in the molecular pathogenesis of F508del cystic fibrosis.

Protein Science : A Publication Of The Protein Society

Wang, Chi C; Protasevich, Irina I; Yang, Zhengrong Z; Seehausen, Derek D; Skalak, Timothy T; Zhao, Xun X; Atwell, Shane S; Spencer Emtage, J J; Wetmore, Diana R DR; Brouillette, Christie G CG; Hunt, John F JF

Publication Date: 2010-10

Variant appearance in text: CFTR: V510D

PubMed Link: 20687163

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Thermal unfolding studies show the disease causing F508del mutation in CFTR thermodynamically destabilizes nucleotide-binding domain 1.

Protein Science : A Publication Of The Protein Society

Protasevich, Irina I; Yang, Zhengrong Z; Wang, Chi C; Atwell, Shane S; Zhao, Xun X; Emtage, Spencer S; Wetmore, Diana D; Hunt, John F JF; Brouillette, Christie G CG

Publication Date: 2010-10

Variant appearance in text: CFTR: V510D

PubMed Link: 20687133

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The V510D suppressor mutation stabilizes DeltaF508-CFTR at the cell surface.

Biochemistry

Loo, Tip W TW; Bartlett, M Claire MC; Clarke, David M DM

Publication Date: 2010-08-03

Variant appearance in text: CFTR: V510D

PubMed Link: 20590134

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• bi100807h.pdf

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Cystic fibrosis transmembrane regulator fragments with the Phe508 deletion exert a dual allosteric control over the master kinase CK2.

The Biochemical Journal

Pagano, Mario A MA; Marin, Oriano O; Cozza, Giorgio G; Sarno, Stefania S; Meggio, Flavio F; Treharne, Kate J KJ; Mehta, Anil A; Pinna, Lorenzo A LA

Publication Date: 2010-01-27

Variant appearance in text: CFTR: V510D

PubMed Link: 19925455

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Mechanisms for rescue of correctable folding defects in CFTRDelta F508.

Molecular Biology Of The Cell

Grove, Diane E DE; Rosser, Meredith F N MF; Ren, Hong Yu HY; Naren, Anjaparavanda P AP; Cyr, Douglas M DM

Publication Date: 2009-09

Variant appearance in text: CFTR: V510D

PubMed Link: 19625452

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