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: R555K

PubMed Link: 36555865

Variant Present in the following documents:

• Main text
• ijms-23-16225.pdf

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A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine

Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY

Publication Date: 2022-05-17

Variant appearance in text: CFTR: 1664G>A; Arg555Lys

PubMed Link: 35584624

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

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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: R555K

PubMed Link: 35327663

Variant Present in the following documents:

• Main text
• 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: R555K

PubMed Link: 35065958

Variant Present in the following documents:

• Main text
• main.pdf

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Rescue of Mutant CFTR Trafficking Defect by the Investigational Compound MCG1516A.

Cells

Lopes-Pacheco, Miquéias M; Bacalhau, Mafalda M; Ramalho, Sofia S SS; Silva, Iris A L IAL; Ferreira, Filipa C FC; Carlile, Graeme W GW; Thomas, David Y DY; Farinha, Carlos M CM; Hanrahan, John W JW; Amaral, Margarida D MD

Publication Date: 2022-01-01

Variant appearance in text: CFTR: R555K

PubMed Link: 35011698

Variant Present in the following documents:

• Main text
• cells-11-00136.pdf

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Rescue of Mutant CFTR Trafficking Defect by the Investigational Compound MCG1516A.

Cells

Lopes-Pacheco, Miquéias M; Bacalhau, Mafalda M; Ramalho, Sofia S SS; Silva, Iris A L IAL; Ferreira, Filipa C FC; Carlile, Graeme W GW; Thomas, David Y DY; Farinha, Carlos M CM; Hanrahan, John W JW; Amaral, Margarida D MD

Publication Date: 2022-01-01

Variant appearance in text: CFTR: R555K

PubMed Link: 35011698

Variant Present in the following documents:

• Main text
• cells-11-00136.pdf

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Rare Trafficking CFTR Mutations Involve Distinct Cellular Retention Machineries and Require Different Rescuing Strategies.

International Journal Of Molecular Sciences

Ramalho, Sofia S SS; Silva, Iris A L IAL; Amaral, Margarida D MD; Farinha, Carlos M CM

Publication Date: 2021-12-21

Variant appearance in text: CFTR: R555K

PubMed Link: 35008443

Variant Present in the following documents:

• Main text

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Rare Trafficking CFTR Mutations Involve Distinct Cellular Retention Machineries and Require Different Rescuing Strategies.

International Journal Of Molecular Sciences

Ramalho, Sofia S SS; Silva, Iris A L IAL; Amaral, Margarida D MD; Farinha, Carlos M CM

Publication Date: 2021-12-21

Variant appearance in text: CFTR: R555K

PubMed Link: 35008443

Variant Present in the following documents:

• Main text

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A small molecule CFTR potentiator restores ATP-dependent channel gating to the cystic fibrosis mutant G551D-CFTR.

British Journal Of Pharmacology

Liu, Jia J; Berg, Allison P AP; Wang, Yiting Y; Jantarajit, Walailak W; Sutcliffe, Katy J KJ; Stevens, Edward B EB; Cao, Lishuang L; Pregel, Marko J MJ; Sheppard, David N DN

Publication Date: 2022-04

Variant appearance in text: CFTR: R555K

PubMed Link: 34644413

Variant Present in the following documents:

• Main text
• BPH-179-1319.pdf

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The CFTR P67L variant reveals a key role for N-terminal lasso helices in channel folding, maturation, and pharmacologic rescue.

The Journal Of Biological Chemistry

Sabusap, Carleen Mae CM; Joshi, Disha D; Simhaev, Luba L; Oliver, Kathryn E KE; Senderowitz, Hanoch H; van Willigen, Marcel M; Braakman, Ineke I; Rab, Andras A; Sorscher, Eric J EJ; Hong, Jeong S JS

Publication Date: 2021

Variant appearance in text: CFTR: R555K

PubMed Link: 33781744

Variant Present in the following documents:

• Main text
• main.pdf

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: CFTR: 1664G>A; R555K

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

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Allosteric folding correction of F508del and rare CFTR mutants by elexacaftor-tezacaftor-ivacaftor (Trikafta) combination.

Jci Insight

Veit, Guido G; Roldan, Ariel A; Hancock, Mark A MA; Da Fonte, Dillon F DF; Xu, Haijin H; Hussein, Maytham M; Frenkiel, Saul S; Matouk, Elias E; Velkov, Tony T; Lukacs, Gergely L GL

Publication Date: 2020-09-17

Variant appearance in text: CFTR: R555K

PubMed Link: 32853178

Variant Present in the following documents:

• Main text
• jciinsight-5-139983.pdf

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Disease-relevant mutations alter amino acid co-evolution networks in the second nucleotide binding domain of CFTR.

Plos One

Ivey, Gabrianne G; Youker, Robert T RT

Publication Date: 2020

Variant appearance in text: CFTR: R555K

PubMed Link: 31978131

Variant Present in the following documents:

• Main text
• pone.0227668.pdf

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Slowing ribosome velocity restores folding and function of mutant CFTR.

The Journal Of Clinical Investigation

Oliver, Kathryn E KE; Rauscher, Robert R; Mijnders, Marjolein M; Wang, Wei W; Wolpert, Matthew J MJ; Maya, Jessica J; Sabusap, Carleen M CM; Kesterson, Robert A RA; Kirk, Kevin L KL; Rab, Andras A; Braakman, Ineke I; Hong, Jeong S JS; Hartman, John L JL; Ignatova, Zoya Z; Sorscher, Eric J EJ

Publication Date: 2019-12-02

Variant appearance in text: CFTR: R555K

PubMed Link: 31657788

Variant Present in the following documents:

• Main text

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Folding Status Is Determinant over Traffic-Competence in Defining CFTR Interactors in the Endoplasmic Reticulum.

Cells

Santos, João D JD; Canato, Sara S; Carvalho, Ana S AS; Botelho, Hugo M HM; Aloria, Kerman K; Amaral, Margarida D MD; Matthiesen, Rune R; Falcao, Andre O AO; Farinha, Carlos M CM

Publication Date: 2019-04-14

Variant appearance in text: CFTR: R555K

PubMed Link: 31014000

Variant Present in the following documents:

• Main text
• cells-08-00353.pdf

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A pathogenic role for cystic fibrosis transmembrane conductance regulator in celiac disease.

The Embo Journal

Villella, Valeria R VR; Venerando, Andrea A; Cozza, Giorgio G; Esposito, Speranza S; Ferrari, Eleonora E; Monzani, Romina R; Spinella, Mara C MC; Oikonomou, Vasilis V; Renga, Giorgia G; Tosco, Antonella A; Rossin, Federica F; Guido, Stefano S; Silano, Marco M; Garaci, Enrico E; Chao, Yu-Kai YK; Grimm, Christian C; Luciani, Alessandro A; Romani, Luigina L; Piacentini, Mauro M; Raia, Valeria V; Kroemer, Guido G; Maiuri, Luigi L

Publication Date: 2019-01-15

Variant appearance in text: CFTR: R555K

PubMed Link: 30498130

Variant Present in the following documents:

• Main text
• EMBJ-38-e100101.pdf

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Differential Scanning Fluorimetry and Hydrogen Deuterium Exchange Mass Spectrometry to Monitor the Conformational Dynamics of NBD1 in Cystic Fibrosis.

Methods In Molecular Biology (Clifton, N.J.)

Soya, Naoto N; Roldan, Ariel A; Lukacs, Gergely L GL

Publication Date: 2019

Variant appearance in text: CFTR: R555K

PubMed Link: 30341603

Variant Present in the following documents:

• Main text

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Structure-guided combination therapy to potently improve the function of mutant CFTRs.

Nature Medicine

Veit, Guido G; Xu, Haijin H; Dreano, Elise E; Avramescu, Radu G RG; Bagdany, Miklos M; Beitel, Lenore K LK; Roldan, Ariel A; Hancock, Mark A MA; Lay, Cecilia C; Li, Wei W; Morin, Katelin K; Gao, Sandra S; Mak, Puiying A PA; Ainscow, Edward E; Orth, Anthony P AP; McNamara, Peter P; Edelman, Aleksander A; Frenkiel, Saul S; Matouk, Elias E; Sermet-Gaudelus, Isabelle I; Barnes, William G WG; Lukacs, Gergely L GL

Publication Date: 2018-11

Variant appearance in text: CFTR: R555K

PubMed Link: 30297908

Variant Present in the following documents:

• Main text
• nihms-1503238.pdf

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Sites associated with Kalydeco binding on human Cystic Fibrosis Transmembrane Conductance Regulator revealed by Hydrogen/Deuterium Exchange.

Scientific Reports

Byrnes, Laura J LJ; Xu, Yingrong Y; Qiu, Xiayang X; Hall, Justin D JD; West, Graham M GM

Publication Date: 2018-03-16

Variant appearance in text: CFTR: R555K

PubMed Link: 29549268

Variant Present in the following documents:

• 41598_2018_Article_22959.pdf

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ΔF508-CFTR Modulator Screen Based on Cell Surface Targeting of a Chimeric Nucleotide Binding Domain 1 Reporter.

Slas Discovery : Advancing Life Sciences R & D

Phuan, Puay-Wah PW; Veit, Guido G; Tan, Joseph-Anthony JA; Roldan, Ariel A; Finkbeiner, Walter E WE; Haggie, Peter M PM; Lukacs, Gergely L GL; Verkman, Alan S AS

Publication Date: 2018-09

Variant appearance in text: CFTR: R555K

PubMed Link: 29533733

Variant Present in the following documents:

• Main text

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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: R555K

PubMed Link: 29425673

Variant Present in the following documents:

• Main text

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Substitution of Yor1p NBD1 residues improves the thermal stability of Human Cystic Fibrosis Transmembrane Conductance Regulator.

Protein Engineering, Design & Selection : Peds

Xavier, B M BM; Hildebrandt, E E; Jiang, F F; Ding, H H; Kappes, J C JC; Urbatsch, I L IL

Publication Date: 2017-10-01

Variant appearance in text: CFTR: R555K

PubMed Link: 29053845

Variant Present in the following documents:

• Main text

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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: R555K

PubMed Link: 28855508

Variant Present in the following documents:

• Main text
• 41467_2017_Article_444.pdf
• 41467_2017_444_MOESM1_ESM.pdf

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Poster Session Abstracts.

Pediatric Pulmonology

Publication Date: 2016-10

Variant appearance in text: CFTR: R555K

PubMed Link: 27653516

Variant Present in the following documents:

• Main text

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Obligate coupling of CFTR pore opening to tight nucleotide-binding domain dimerization.

Elife

Mihályi, Csaba C; Töröcsik, Beáta B; Csanády, László L

Publication Date: 2016-06-21

Variant appearance in text: CFTR: R555K

PubMed Link: 27328319

Variant Present in the following documents:

• Main text
• elife-18164.pdf

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Non-native Conformers of Cystic Fibrosis Transmembrane Conductance Regulator NBD1 Are Recognized by Hsp27 and Conjugated to SUMO-2 for Degradation.

The Journal Of Biological Chemistry

Gong, Xiaoyan X; Ahner, Annette A; Roldan, Ariel A; Lukacs, Gergely L GL; Thibodeau, Patrick H PH; Frizzell, Raymond A RA

Publication Date: 2016-01-22

Variant appearance in text: CFTR: R555K

PubMed Link: 26627832

Variant Present in the following documents:

• Main text

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Deletion of Phenylalanine 508 in the First Nucleotide-binding Domain of the Cystic Fibrosis Transmembrane Conductance Regulator Increases Conformational Exchange and Inhibits Dimerization.

The Journal Of Biological Chemistry

Chong, P Andrew PA; Farber, Patrick J PJ; Vernon, Robert M RM; Hudson, Rhea P RP; Mittermaier, Anthony K AK; Forman-Kay, Julie D JD

Publication Date: 2015-09-18

Variant appearance in text: CFTR: R555K

PubMed Link: 26149808

Variant Present in the following documents:

• Main text

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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: R555K

PubMed Link: 25101887

Variant Present in the following documents:

• Main text

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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: R555K

PubMed Link: 25083918

Variant Present in the following documents:

• Main text

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Decoding F508del misfolding in cystic fibrosis.

Biomolecules

Wang, Xiaodong Robert XR; Li, Chenglong C

Publication Date: 2014-05-06

Variant appearance in text: CFTR: R555K

PubMed Link: 24970227

Variant Present in the following documents:

• Main text
• biomolecules-04-00498.pdf

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CFTR potentiators partially restore channel function to A561E-CFTR, a cystic fibrosis mutant with a similar mechanism of dysfunction as F508del-CFTR.

British Journal Of Pharmacology

Wang, Yiting Y; Liu, Jia J; Loizidou, Avgi A; Bugeja, Luc A LA; Warner, Ross R; Hawley, Bethan R BR; Cai, Zhiwei Z; Toye, Ashley M AM; Sheppard, David N DN; Li, Hongyu H

Publication Date: 2014-10

Variant appearance in text: CFTR: R555K

PubMed Link: 24902474

Variant Present in the following documents:

• Main text

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The G551D CFTR chloride channel spurs the development of personalized medicine.

The Journal Of Physiology

Fischer, Horst H

Publication Date: 2014-05-01

Variant appearance in text: CFTR: R555K

PubMed Link: 24786148

Variant Present in the following documents:

• Main text

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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: R555K

PubMed Link: 24591578

Variant Present in the following documents:

• Main text

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Bithiazole correctors rescue CFTR mutants by two different mechanisms.

Biochemistry

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

Publication Date: 2013-08-06

Variant appearance in text: CFTR: R555K

PubMed Link: 23865422

Variant Present in the following documents:

• Main text

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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: R555K

PubMed Link: 23666117

Variant Present in the following documents:

• Main text

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Gout-causing Q141K mutation in ABCG2 leads to instability of the nucleotide-binding domain and can be corrected with small molecules.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Woodward, Owen M OM; Tukaye, Deepali N DN; Cui, Jinming J; Greenwell, Patrick P; Constantoulakis, Leeza M LM; Parker, Benjamin S BS; Rao, Anjana A; Köttgen, Michael M; Maloney, Peter C PC; Guggino, William B WB

Publication Date: 2013-03-26

Variant appearance in text: CFTR: R555K

PubMed Link: 23493553

Variant Present in the following documents:

• Main text

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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: R555K

PubMed Link: 23457292

Variant Present in the following documents:

• Main text

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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: R555K

PubMed Link: 23378596

Variant Present in the following documents:

• Main text

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Pharmacological Correctors of Mutant CFTR Mistrafficking.

Frontiers In Pharmacology

Pedemonte, Nicoletta N; Galietta, Luis J V LJ

Publication Date: 2012

Variant appearance in text: CFTR: R555K

PubMed Link: 23060795

Variant Present in the following documents:

• Main text
• fphar-03-00175.pdf

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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: R555K

PubMed Link: 23055971

Variant Present in the following documents:

• Main text

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Conformational changes relevant to channel activity and folding within the first nucleotide binding domain of the cystic fibrosis transmembrane conductance regulator.

The Journal Of Biological Chemistry

Hudson, Rhea P RP; Chong, P Andrew PA; Protasevich, Irina I II; Vernon, Robert R; Noy, Efrat E; Bihler, Hermann H; An, Jian Li JL; Kalid, Ori O; Sela-Culang, Inbal I; Mense, Martin M; Senderowitz, Hanoch H; Brouillette, Christie G CG; Forman-Kay, Julie D JD

Publication Date: 2012-08-17

Variant appearance in text: CFTR: R555K

PubMed Link: 22722932

Variant Present in the following documents:

• Main text

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Thermal instability of ΔF508 cystic fibrosis transmembrane conductance regulator (CFTR) channel function: protection by single suppressor mutations and inhibiting channel activity.

Biochemistry

Liu, Xuehong X; O'Donnell, Nicolette N; Landstrom, Allison A; Skach, William R WR; Dawson, David C DC

Publication Date: 2012-06-26

Variant appearance in text: CFTR: R555K

PubMed Link: 22680785

Variant Present in the following documents:

• Main text

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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: R555K

PubMed Link: 22406676

Variant Present in the following documents:

• Main text

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Requirements for efficient correction of ΔF508 CFTR revealed by analyses of evolved sequences.

Cell

Mendoza, Juan L JL; Schmidt, André A; Li, Qin Q; Nuvaga, Emmanuel E; Barrett, Tyler T; Bridges, Robert J RJ; Feranchak, Andrew P AP; Brautigam, Chad A CA; Thomas, Philip J PJ

Publication Date: 2012-01-20

Variant appearance in text: CFTR: R555K

PubMed Link: 22265409

Variant Present in the following documents:

• Main text

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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: R555K

PubMed Link: 22265408

Variant Present in the following documents:

• Main text

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Human-mouse cystic fibrosis transmembrane conductance regulator (CFTR) chimeras identify regions that partially rescue CFTR-ΔF508 processing and alter its gating defect.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Dong, Qian Q; Ostedgaard, Lynda S LS; Rogers, Christopher C; Vermeer, Daniel W DW; Zhang, Yuping Y; Welsh, Michael J MJ

Publication Date: 2012-01-17

Variant appearance in text: CFTR: R555K

PubMed Link: 22210114

Variant Present in the following documents:

• Main text

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Thermally unstable gating of the most common cystic fibrosis mutant channel (ΔF508): "rescue" by suppressor mutations in nucleotide binding domain 1 and by constitutive mutations in the cytosolic loops.

The Journal Of Biological Chemistry

Wang, Wei W; Okeyo, George O GO; Tao, Binli B; Hong, Jeong S JS; Kirk, Kevin L KL

Publication Date: 2011-12-09

Variant appearance in text: CFTR: R555K

PubMed Link: 21965669

Variant Present in the following documents:

• Main text

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Probing conformational rescue induced by a chemical corrector of F508del-cystic fibrosis transmembrane conductance regulator (CFTR) mutant.

The Journal Of Biological Chemistry

Yu, Wilson W; Kim Chiaw, Patrick P; Bear, Christine E CE

Publication Date: 2011-07-15

Variant appearance in text: CFTR: R555K

PubMed Link: 21602569

Variant Present in the following documents:

• Main text

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Biochemical and biophysical approaches to probe CFTR structure.

Methods In Molecular Biology (Clifton, N.J.)

Schmidt, André A; Mendoza, Juan L JL; Thomas, Philip J PJ

Publication Date: 2011

Variant appearance in text: CFTR: R555K

PubMed Link: 21594797

Variant Present in the following documents:

• Main text

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Mutant cycles at CFTR's non-canonical ATP-binding site support little interface separation during gating.

The Journal Of General Physiology

Szollosi, Andras A; Muallem, Daniella R DR; Csanády, László L; Vergani, Paola P

Publication Date: 2011-06

Variant appearance in text: CFTR: R555K

PubMed Link: 21576373

Variant Present in the following documents:

• Main text
• JGP_201110608.pdf

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Intragenic suppressing mutations correct the folding and intracellular traffic of misfolded mutants of Yor1p, a eukaryotic drug transporter.

The Journal Of Biological Chemistry

Pagant, Silvere S; Halliday, John J JJ; Kougentakis, Christos C; Miller, Elizabeth A EA

Publication Date: 2010-11-19

Variant appearance in text: CFTR: R555K

PubMed Link: 20837481

Variant Present in the following documents:

• Main text

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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: R555K

PubMed Link: 20687163

Variant Present in the following documents:

• Main text

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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

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PubMed Link: 20687133

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The cystic fibrosis-causing mutation deltaF508 affects multiple steps in cystic fibrosis transmembrane conductance regulator biogenesis.

The Journal Of Biological Chemistry

Thibodeau, Patrick H PH; Richardson, John M JM; Wang, Wei W; Millen, Linda L; Watson, Jarod J; Mendoza, Juan L JL; Du, Kai K; Fischman, Sharon S; Senderowitz, Hanoch H; Lukacs, Gergely L GL; Kirk, Kevin K; Thomas, Philip J PJ

Publication Date: 2010-11-12

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PubMed Link: 20667826

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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

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PubMed Link: 20590134

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Restoration of domain folding and interdomain assembly by second-site suppressors of the DeltaF508 mutation in CFTR.

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

He, Lihua L; Aleksandrov, Luba A LA; Cui, Liying L; Jensen, Timothy J TJ; Nesbitt, Kenneth L KL; Riordan, John R JR

Publication Date: 2010-08

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PubMed Link: 20233947

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Interplay between ER exit code and domain conformation in CFTR misprocessing and rescue.

Molecular Biology Of The Cell

Roy, Gargi G; Chalfin, Elaine M EM; Saxena, Anita A; Wang, Xiaodong X

Publication Date: 2010-02-15

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PubMed Link: 20032308

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