CFTR c.1649G>A ;(p.G550E)

Variant ID: 7-117227857-G-A

NM_000492.3(CFTR):c.1649G>A;(p.G550E)

This variant was identified in 64 publications

View GRCh38 version.




Publications:


The synthetic aminoglycoside ELX-02 induces readthrough of G550X-CFTR producing super-functional protein that can be further enhanced by CFTR modulators.

American Journal Of Physiology. Lung Cellular And Molecular Physiology
Chen, Jianguo J; Thrasher, Kari K; Fu, Lianwu L; Wang, Wei W; Aghamohammadzadeh, Soheil S; Wen, Hui H; Tang, Liping L; Keeling, Kim M KM; Falk Libby, Emily E; Bedwell, David M DM; Rowe, Steven M SM
Publication Date: 2023-04-04

Variant appearance in text: CFTR: G550E
PubMed Link: 37014818
Variant Present in the following documents:
  • Main text
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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: G550E
PubMed Link: 36555865
Variant Present in the following documents:
  • Main text
  • ijms-23-16225.pdf
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Differential CFTR-Interactome Proximity Labeling Procedures Identify Enrichment in Multiple SLC Transporters.

International Journal Of Molecular Sciences
Chevalier, Benoît B; Baatallah, Nesrine N; Najm, Matthieu M; Castanier, Solène S; Jung, Vincent V; Pranke, Iwona I; Golec, Anita A; Stoven, Véronique V; Marullo, Stefano S; Antigny, Fabrice F; Guerrera, Ida Chiara IC; Sermet-Gaudelus, Isabelle I; Edelman, Aleksander A; Hinzpeter, Alexandre A
Publication Date: 2022-08-11

Variant appearance in text: CFTR: G550E
PubMed Link: 36012204
Variant Present in the following documents:
  • ijms-23-08937.pdf
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Molecular mechanisms of cystic fibrosis - how mutations lead to misfunction and guide therapy.

Bioscience Reports
Farinha, Carlos M CM; Callebaut, Isabelle I
Publication Date: 2022-07-29

Variant appearance in text: CFTR: G550E
PubMed Link: 35707985
Variant Present in the following documents:
  • Main text
  • bsr-42-bsr20212006.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: 1649G>A; Gly550Glu
PubMed Link: 35584624
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



The L467F-F508del Complex Allele Hampers Pharmacological Rescue of Mutant CFTR by Elexacaftor/Tezacaftor/Ivacaftor in Cystic Fibrosis Patients: The Value of the Ex Vivo Nasal Epithelial Model to Address Non-Responders to CFTR-Modulating Drugs.

International Journal Of Molecular Sciences
Sondo, Elvira E; Cresta, Federico F; Pastorino, Cristina C; Tomati, Valeria V; Capurro, Valeria V; Pesce, Emanuela E; Lena, Mariateresa M; Iacomino, Michele M; Baffico, Ave Maria AM; Coviello, Domenico D; Bandiera, Tiziano T; Zara, Federico F; Galietta, Luis J V LJV; Bocciardi, Renata R; Castellani, Carlo C; Pedemonte, Nicoletta N
Publication Date: 2022-03-15

Variant appearance in text: CFTR: G550E
PubMed Link: 35328596
Variant Present in the following documents:
  • ijms-23-03175.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: G550E
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: G550E
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: G550E
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: G550E
PubMed Link: 35011698
Variant Present in the following documents:
  • Main text
  • cells-11-00136.pdf
View BVdb publication page



Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Genome Medicine
Wang, Zishan Z; Fan, Xiao X; Shen, Yufeng Y; Pagadala, Meghana S MS; Signer, Rebecca R; Cygan, Kamil J KJ; Fairbrother, William G WG; Carter, Hannah H; Chung, Wendy K WK; Huang, Kuan-Lin KL
Publication Date: 2021-09-09

Variant appearance in text: CFTR: 1649G>A
PubMed Link: 34503567
Variant Present in the following documents:
  • 13073_2021_964_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies.

Cancer Gene Therapy
Denisova, Evgeniya E; Westphal, Dana D; Surowy, Harald M HM; Meier, Friedegund F; Hutter, Barbara B; Reifenberger, Julia J; Rütten, Arno A; Schulz, Alexander A; Sergon, Mildred M; Ziemer, Mirjana M; Brors, Benedikt B; Betz, Regina C RC; Redler, Silke S
Publication Date: 2022-06

Variant appearance in text: CFTR: G550E
PubMed Link: 34045664
Variant Present in the following documents:
  • 41417_2021_347_MOESM4_ESM.xls, sheet 6
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Proteomics and Metabolomics for Cystic Fibrosis Research.

International Journal Of Molecular Sciences
Liessi, Nara N; Pedemonte, Nicoletta N; Armirotti, Andrea A; Braccia, Clarissa C
Publication Date: 2020-07-30

Variant appearance in text: CFTR: G550E
PubMed Link: 32751630
Variant Present in the following documents:
  • ijms-21-05439.pdf
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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: G550E
PubMed Link: 32630527
Variant Present in the following documents:
  • Main text
  • ijms-21-04524.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: G550E
PubMed Link: 31978131
Variant Present in the following documents:
  • Main text
  • pone.0227668.pdf
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How to Avoid a No-Deal ER Exit.

Cells
Anelli, Tiziana T; Panina-Bordignon, Paola P
Publication Date: 2019-09-07

Variant appearance in text: CFTR: G550E
PubMed Link: 31500301
Variant Present in the following documents:
  • cells-08-01051.pdf
View BVdb publication page



Identification of GLPG/ABBV-2737, a Novel Class of Corrector, Which Exerts Functional Synergy With Other CFTR Modulators.

Frontiers In Pharmacology
de Wilde, Gert G; Gees, Maarten M; Musch, Sara S; Verdonck, Katleen K; Jans, Mia M; Wesse, Anne-Sophie AS; Singh, Ashvani K AK; Hwang, Tzyh-Chang TC; Christophe, Thierry T; Pizzonero, Mathieu M; Van der Plas, Steven S; Desroy, Nicolas N; Cowart, Marlon M; Stouten, Pieter P; Nelles, Luc L; Conrath, Katja K
Publication Date: 2019

Variant appearance in text: CFTR: G550E
PubMed Link: 31143125
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: G550E
PubMed Link: 31014000
Variant Present in the following documents:
  • 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: G550E
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: G550E
PubMed Link: 30341603
Variant Present in the following documents:
  • Main text
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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: G550E
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: G550E
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: G550E
PubMed Link: 29425673
Variant Present in the following documents:
  • Main text
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Partial rescue of F508del-cystic fibrosis transmembrane conductance regulator channel gating with modest improvement of protein processing, but not stability, by a dual-acting small molecule.

British Journal Of Pharmacology
Liu, Jia J; Bihler, Hermann H; Farinha, Carlos M CM; Awatade, Nikhil T NT; Romão, Ana M AM; Mercadante, Dayna D; Cheng, Yi Y; Musisi, Isaac I; Jantarajit, Walailak W; Wang, Yiting Y; Cai, Zhiwei Z; Amaral, Margarida D MD; Mense, Martin M; Sheppard, David N DN
Publication Date: 2018-04

Variant appearance in text: CFTR: G550E
PubMed Link: 29318594
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: G550E
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: G550E
PubMed Link: 28855508
Variant Present in the following documents:
  • 41467_2017_Article_444.pdf
  • 41467_2017_444_MOESM1_ESM.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: G550E
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: G550E
PubMed Link: 26149808
Variant Present in the following documents:
  • Main text
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Measurements of Functional Responses in Human Primary Lung Cells as a Basis for Personalized Therapy for Cystic Fibrosis.

Ebiomedicine
Awatade, Nikhil T NT; Uliyakina, Inna I; Farinha, Carlos M CM; Clarke, Luka A LA; Mendes, Karina K; Solé, Amparo A; Pastor, Juan J; Ramos, Maria Margarida MM; Amaral, Margarida D MD
Publication Date: 2015

Variant appearance in text: CFTR: G550E
PubMed Link: 26137539
Variant Present in the following documents:
  • main.pdf
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Biophysical characterisation of calumenin as a charged F508del-CFTR folding modulator.

Plos One
Tripathi, Rashmi R; Benz, Nathalie N; Culleton, Bridget B; Trouvé, Pascal P; Férec, Claude C
Publication Date: 2014

Variant appearance in text: CFTR: G550E
PubMed Link: 25120007
Variant Present in the following documents:
  • Main text
  • pone.0104970.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: G550E
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: G550E
PubMed Link: 25083918
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: G550E
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: G550E
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: G550E
PubMed Link: 24591578
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: G550E
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: G550E
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: G550E
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: G550E
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: G550E
PubMed Link: 23378596
Variant Present in the following documents:
  • Main text
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Mechanisms of CFTR Folding at the Endoplasmic Reticulum.

Frontiers In Pharmacology
Kim, Soo Jung SJ; Skach, William R WR
Publication Date: 2012

Variant appearance in text: CFTR: G550E
PubMed Link: 23248597
Variant Present in the following documents:
  • Main text
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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: G550E
PubMed Link: 23055971
Variant Present in the following documents:
  • Main text
  • fphar-03-00160.pdf
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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: G550E
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: G550E
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: G550E
PubMed Link: 22406676
Variant Present in the following documents:
  • Main text
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Phosphorylation-dependent 14-3-3 protein interactions regulate CFTR biogenesis.

Molecular Biology Of The Cell
Liang, Xiubin X; Da Paula, Ana Carina AC; Bozóky, Zoltán Z; Zhang, Hui H; Bertrand, Carol A CA; Peters, Kathryn W KW; Forman-Kay, Julie D JD; Frizzell, Raymond A RA
Publication Date: 2012-03

Variant appearance in text: CFTR: G550E
PubMed Link: 22278744
Variant Present in the following documents:
  • 996.pdf
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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: G550E
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: G550E
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: G550E
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: G550E
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: G550E
PubMed Link: 21602569
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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: G550E
PubMed Link: 21594797
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The primary folding defect and rescue of ΔF508 CFTR emerge during translation of the mutant domain.

Plos One
Hoelen, Hanneke H; Kleizen, Bertrand B; Schmidt, Andre A; Richardson, John J; Charitou, Paraskevi P; Thomas, Philip J PJ; Braakman, Ineke I
Publication Date: 2010-11-30

Variant appearance in text: CFTR: G550E
PubMed Link: 21152102
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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: G550E
PubMed Link: 20837481
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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: G550E
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: G550E
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

Variant appearance in text: CFTR: G550E
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: G550E
PubMed Link: 20590134
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Folding and rescue of a cystic fibrosis transmembrane conductance regulator trafficking mutant identified using human-murine chimeric proteins.

The Journal Of Biological Chemistry
Da Paula, Ana Carina AC; Sousa, Marisa M; Xu, Zhe Z; Dawson, Elizabeth S ES; Boyd, A Christopher AC; Sheppard, David N DN; Amaral, Margarida D MD
Publication Date: 2010-08-27

Variant appearance in text: CFTR: G550E
PubMed Link: 20551307
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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: G550E
PubMed Link: 20233947
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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: G550E
PubMed Link: 19927121
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Diminished self-chaperoning activity of the DeltaF508 mutant of CFTR results in protein misfolding.

Plos Computational Biology
Serohijos, Adrian W R AW; Hegedus, Tamás T; Riordan, John R JR; Dokholyan, Nikolay V NV
Publication Date: 2008-02-29

Variant appearance in text: CFTR: G550E
PubMed Link: 18463704
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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: G550E
PubMed Link: 17098864
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Side chain and backbone contributions of Phe508 to CFTR folding.

Nature Structural & Molecular Biology
Thibodeau, Patrick H PH; Brautigam, Chad A CA; Machius, Mischa M; Thomas, Philip J PJ
Publication Date: 2005-01

Variant appearance in text: CFTR: G550E
PubMed Link: 15619636
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