Publications:

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Role of Protein Kinase A-Mediated Phosphorylation in CFTR Channel Activity Regulation.

Frontiers In Physiology

Della Sala, Angela A; Prono, Giulia G; Hirsch, Emilio E; Ghigo, Alessandra A

Publication Date: 2021

Variant appearance in text: CFTR: R170G

PubMed Link: 34211404

Variant Present in the following documents:

• Main text
• fphys-12-690247.pdf

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G551D mutation impairs PKA-dependent activation of CFTR channel that can be restored by novel GOF mutations.

American Journal Of Physiology. Lung Cellular And Molecular Physiology

Wang, Wei W; Fu, Lianwu L; Liu, Zhiyong Z; Wen, Hui H; Rab, Andras A; Hong, Jeong S JS; Kirk, Kevin L KL; Rowe, Steven M SM

Publication Date: 2020-11-01

Variant appearance in text: CFTR: R170G

PubMed Link: 32877225

Variant Present in the following documents:

• Main text

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Mutation-specific downregulation of CFTR2 variants by gating potentiators.

Human Molecular Genetics

Avramescu, Radu G RG; Kai, Yukari Y; Xu, Haijin H; Bidaud-Meynard, Aurélien A; Schnúr, Andrea A; Frenkiel, Saul S; Matouk, Elias E; Veit, Guido G; Lukacs, Gergely L GL

Publication Date: 2017-12-15

Variant appearance in text: CFTR: R170G

PubMed Link: 29040544

Variant Present in the following documents:

• Main text

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Attenuation of Phosphorylation-dependent Activation of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) by Disease-causing Mutations at the Transmission Interface.

The Journal Of Biological Chemistry

Chin, Stephanie S; Yang, Donghe D; Miles, Andrew J AJ; Eckford, Paul D W PDW; Molinski, Steven S; Wallace, B A BA; Bear, Christine E CE

Publication Date: 2017-02-03

Variant appearance in text: CFTR: R170G

PubMed Link: 28003367

Variant Present in the following documents:

• Main text
• zbc1988.pdf

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From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations.

Molecular Biology Of The Cell

Veit, Gudio G; Avramescu, Radu G RG; Chiang, Annette N AN; Houck, Scott A SA; Cai, Zhiwei Z; Peters, Kathryn W KW; Hong, Jeong S JS; Pollard, Harvey B HB; Guggino, William B WB; Balch, William E WE; Skach, William R WR; Cutting, Garry R GR; Frizzell, Raymond A RA; Sheppard, David N DN; Cyr, Douglas M DM; Sorscher, Eric J EJ; Brodsky, Jeffrey L JL; Lukacs, Gergely L GL

Publication Date: 2016-02-01

Variant appearance in text: CFTR: R170G

PubMed Link: 26823392

Variant Present in the following documents:

• Main text
• 424.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: R170G

PubMed Link: 25101887

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: R170G

PubMed Link: 23666117

Variant Present in the following documents:

• Main text

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