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: R553M

PubMed Link: 36555865

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• ijms-23-16225.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

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PubMed Link: 35065958

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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: R553M

PubMed Link: 31978131

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• pone.0227668.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: R553M

PubMed Link: 29549268

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• 41598_2018_Article_22959.pdf

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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: R553M

PubMed Link: 29425673

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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: R553M

PubMed Link: 29053845

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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: R553M

PubMed Link: 26149808

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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: R553M

PubMed Link: 25083918

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Complement yourself: Transcomplementation rescues partially folded mutant proteins.

Biophysical Reviews

Cebotaru, Liudmila L; Guggino, William B WB

Publication Date: 2014-03-01

Variant appearance in text: CFTR: R553M

PubMed Link: 24949105

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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: R553M

PubMed Link: 24591578

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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: R553M

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: R553M

PubMed Link: 23055971

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• fphar-03-00160.pdf

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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: R553M

PubMed Link: 22680785

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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: R553M

PubMed Link: 22265409

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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: R553M

PubMed Link: 22210114

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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: R553M

PubMed Link: 21965669

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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: R553M

PubMed Link: 21602569

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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: R553M

PubMed Link: 20837481

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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

Variant appearance in text: CFTR: R553M

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

Variant appearance in text: CFTR: R553M

PubMed Link: 20590134

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• bi100807h.pdf

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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

Variant appearance in text: CFTR: R553M

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

Variant appearance in text: CFTR: R553M

PubMed Link: 20032308

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• zmk597.pdf

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NMR evidence for differential phosphorylation-dependent interactions in WT and DeltaF508 CFTR.

The Embo Journal

Kanelis, Voula V; Hudson, Rhea P RP; Thibodeau, Patrick H PH; Thomas, Philip J PJ; Forman-Kay, Julie D JD

Publication Date: 2010-01-06

Variant appearance in text: CFTR: R553M

PubMed Link: 19927121

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