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: R29K

PubMed Link: 36555865

Variant Present in the following documents:

• Main text
• ijms-23-16225.pdf

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Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications

Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A

Publication Date: 2022-07-13

Variant appearance in text: CFTR: 86G>A

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

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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: R29K

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: R29K

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: R29K

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: R29K

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: R29K

PubMed Link: 34644413

Variant Present in the following documents:

• Main text
• BPH-179-1319.pdf

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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: R29K

PubMed Link: 31014000

Variant Present in the following documents:

• Main text
• cells-08-00353.pdf

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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: R29K

PubMed Link: 30297908

Variant Present in the following documents:

• Main text
• nihms-1503238.pdf

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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: R29K

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: R29K

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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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: R29K

PubMed Link: 25101887

Variant Present in the following documents:

• Main text

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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: R29K

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: R29K

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: R29K

PubMed Link: 24591578

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: R29K

PubMed Link: 23666117

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: R29K

PubMed Link: 21965669

Variant Present in the following documents:

• Main text

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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

Variant appearance in text: CFTR: R29K

PubMed Link: 20032308

Variant Present in the following documents:

• Main text
• zmk597.pdf
• E09-05-0427_1.pdf

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Cooperative assembly and misfolding of CFTR domains in vivo.

Molecular Biology Of The Cell

Du, Kai K; Lukacs, Gergely L GL

Publication Date: 2009-04

Variant appearance in text: CFTR: R29K

PubMed Link: 19176754

Variant Present in the following documents:

• Main text

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Revertant mutants G550E and 4RK rescue cystic fibrosis mutants in the first nucleotide-binding domain of CFTR by different mechanisms.

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

Roxo-Rosa, Mónica M; Xu, Zhe Z; Schmidt, André A; Neto, Mário M; Cai, Zhiwei Z; Soares, Cláudio M CM; Sheppard, David N DN; Amaral, Margarida D MD

Publication Date: 2006-11-21

Variant appearance in text: CFTR: R29K

PubMed Link: 17098864

Variant Present in the following documents:

• Main text

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