CFTR c.1616T>C ;(p.I539T)

Variant ID: 7-117227824-T-C

NM_000492.3(CFTR):c.1616T>C;(p.I539T)

This variant was identified in 48 publications

View GRCh38 version.




Publications:


ABC-transporter CFTR folds with high fidelity through a modular, stepwise pathway.

Cellular And Molecular Life Sciences : Cmls
Im, Jisu J; Hillenaar, Tamara T; Yeoh, Hui Ying HY; Sahasrabudhe, Priyanka P; Mijnders, Marjolein M; van Willigen, Marcel M; Hagos, Azib A; de Mattos, Eduardo E; van der Sluijs, Peter P; Braakman, Ineke I
Publication Date: 2023-01-07

Variant appearance in text: CFTR: I539T
PubMed Link: 36609925
Variant Present in the following documents:
  • 18_2022_4671_MOESM1_ESM.pdf
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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: I539T
PubMed Link: 36555865
Variant Present in the following documents:
  • Main text
  • ijms-23-16225.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: I539T
PubMed Link: 35327663
Variant Present in the following documents:
  • Main text
  • biomolecules-12-00471.pdf
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Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.

Orphanet Journal Of Rare Diseases
Ni, Qi Q; Chen, Xiang X; Zhang, Ping P; Yang, Lin L; Lu, Yulan Y; Xiao, Feifan F; Wu, Bingbing B; Wang, Huijun H; Zhou, Wenhao W; Dong, Xinran X
Publication Date: 2022-03-21

Variant appearance in text: CFTR: 1616T>C; I539T; rs144745159
PubMed Link: 35313924
Variant Present in the following documents:
  • 13023_2022_2279_MOESM1_ESM.xls, sheet 1
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A small molecule high throughput screening platform to profile conformational properties of nascent, ribosome-bound proteins.

Scientific Reports
Shishido, Hideki H; Yoon, Jae Seok JS; Skach, William R WR
Publication Date: 2022-02-15

Variant appearance in text: CFTR: I539T
PubMed Link: 35169219
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_6456.pdf
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A small molecule high throughput screening platform to profile conformational properties of nascent, ribosome-bound proteins.

Scientific Reports
Shishido, Hideki H; Yoon, Jae Seok JS; Skach, William R WR
Publication Date: 2022-02-15

Variant appearance in text: CFTR: I539T
PubMed Link: 35169219
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_6456.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: I539T
PubMed Link: 35065958
Variant Present in the following documents:
  • Main text
  • main.pdf
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Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)
Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI
Publication Date: 2020

Variant appearance in text: rs144745159
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: CFTR: I539T
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
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CFTR trafficking mutations disrupt cotranslational protein folding by targeting biosynthetic intermediates.

Nature Communications
Shishido, Hideki H; Yoon, Jae Seok JS; Yang, Zhongying Z; Skach, William R WR
Publication Date: 2020-08-26

Variant appearance in text: CFTR: I539T
PubMed Link: 32848127
Variant Present in the following documents:
  • Main text
  • 41467_2020_Article_18101.pdf
  • 41467_2020_18101_MOESM1_ESM.pdf
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Activity of lumacaftor is not conserved in zebrafish Cftr bearing the major cystic fibrosis-causing mutation.

Faseb Bioadvances
Laselva, Onofrio O; Erwood, Steven S; Du, Kai K; Ivakine, Zhenya Z; Bear, Christine E CE
Publication Date: 2019-10

Variant appearance in text: CFTR: I539T
PubMed Link: 32123813
Variant Present in the following documents:
  • Main text
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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: I539T
PubMed Link: 31978131
Variant Present in the following documents:
  • Main text
  • pone.0227668.pdf
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Towards next generation therapies for cystic fibrosis: Folding, function and pharmacology of CFTR.

Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society
Bose, Samuel J SJ; Krainer, Georg G; Ng, Demi R S DRS; Schenkel, Mathias M; Shishido, Hideki H; Yoon, Jae Seok JS; Haggie, Peter M PM; Schlierf, Michael M; Sheppard, David N DN; Skach, William R WR
Publication Date: 2020-03

Variant appearance in text: CFTR: I539T
PubMed Link: 31902693
Variant Present in the following documents:
  • Main text
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Domain-interface dynamics of CFTR revealed by stabilizing nanobodies.

Nature Communications
Sigoillot, Maud M; Overtus, Marie M; Grodecka, Magdalena M; Scholl, Daniel D; Garcia-Pino, Abel A; Laeremans, Toon T; He, Lihua L; Pardon, Els E; Hildebrandt, Ellen E; Urbatsch, Ina I; Steyaert, Jan J; Riordan, John R JR; Govaerts, Cedric C
Publication Date: 2019-06-14

Variant appearance in text: CFTR: I539T
PubMed Link: 31201318
Variant Present in the following documents:
  • Main text
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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: I539T
PubMed Link: 31143125
Variant Present in the following documents:
  • Main text
  • Data_Sheet_1.pdf
  • fphar-10-00514.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: I539T
PubMed Link: 29549268
Variant Present in the following documents:
  • 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: I539T
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: I539T
PubMed Link: 29053845
Variant Present in the following documents:
  • Main text
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Stabilization of a nucleotide-binding domain of the cystic fibrosis transmembrane conductance regulator yields insight into disease-causing mutations.

The Journal Of Biological Chemistry
Vernon, Robert M RM; Chong, P Andrew PA; Lin, Hong H; Yang, Zhengrong Z; Zhou, Qingxian Q; Aleksandrov, Andrei A AA; Dawson, Jennifer E JE; Riordan, John R JR; Brouillette, Christie G CG; Thibodeau, Patrick H PH; Forman-Kay, Julie D JD
Publication Date: 2017-08-25

Variant appearance in text: CFTR: I539T
PubMed Link: 28655774
Variant Present in the following documents:
  • Main text
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Specific stabilization of CFTR by phosphatidylserine.

Biochimica Et Biophysica Acta. Biomembranes
Hildebrandt, Ellen E; Khazanov, Netaly N; Kappes, John C JC; Dai, Qun Q; Senderowitz, Hanoch H; Urbatsch, Ina L IL
Publication Date: 2017-02

Variant appearance in text: CFTR: I539T
PubMed Link: 27913277
Variant Present in the following documents:
  • Main text
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Thermal stability of purified and reconstituted CFTR in a locked open channel conformation.

Protein Expression And Purification
Aleksandrov, Luba A LA; Jensen, Timothy J TJ; Cui, Liying L; Kousouros, Joseph N JN; He, Lihua L; Aleksandrov, Andrei A AA; Riordan, John R JR
Publication Date: 2015-12

Variant appearance in text: CFTR: I539T
PubMed Link: 26384709
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: I539T
PubMed Link: 26149808
Variant Present in the following documents:
  • Main text
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Impact of the F508del mutation on ovine CFTR, a Cl- channel with enhanced conductance and ATP-dependent gating.

The Journal Of Physiology
Cai, Zhiwei Z; Palmai-Pallag, Timea T; Khuituan, Pissared P; Mutolo, Michael J MJ; Boinot, Clément C; Liu, Beihui B; Scott-Ward, Toby S TS; Callebaut, Isabelle I; Harris, Ann A; Sheppard, David N DN
Publication Date: 2015-06-01

Variant appearance in text: CFTR: I539T
PubMed Link: 25763566
Variant Present in the following documents:
  • Main text
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Rational Coupled Dynamics Network Manipulation Rescues Disease-Relevant Mutant Cystic Fibrosis Transmembrane Conductance Regulator.

Chemical Science
Proctor, Elizabeth A EA; Kota, Pradeep P; Aleksandrov, Andrei A AA; He, Lihua L; Riordan, John R JR; Dokholyan, Nikolay V NV
Publication Date: 2015-02

Variant appearance in text: CFTR: I539T
PubMed Link: 25685315
Variant Present in the following documents:
  • Main text
  • SC-006-C4SC01320D-s001.pdf
  • SC-006-C4SC01320D.pdf
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Cystic fibrosis transmembrane conductance regulator (CFTR) potentiators protect G551D but not ΔF508 CFTR from thermal instability.

Biochemistry
Liu, Xuehong X; Dawson, David C DC
Publication Date: 2014-09-09

Variant appearance in text: CFTR: I539T
PubMed Link: 25148434
Variant Present in the following documents:
  • Main text
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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: I539T
PubMed Link: 25120007
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: I539T
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: I539T
PubMed Link: 24970227
Variant Present in the following documents:
  • Main text
  • biomolecules-04-00498.pdf
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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: I539T
PubMed Link: 24949105
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: I539T
PubMed Link: 24591578
Variant Present in the following documents:
  • Main text
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Allosteric coupling between the intracellular coupling helix 4 and regulatory sites of the first nucleotide-binding domain of CFTR.

Plos One
Dawson, Jennifer E JE; Farber, Patrick J PJ; Forman-Kay, Julie D JD
Publication Date: 2013

Variant appearance in text: CFTR: I539T
PubMed Link: 24058550
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: I539T
PubMed Link: 23666117
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: I539T
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: I539T
PubMed Link: 23378596
Variant Present in the following documents:
  • Main text
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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: I539T
PubMed Link: 23104983
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: I539T
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: I539T
PubMed Link: 23055971
Variant Present in the following documents:
  • Main text
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A chaperone trap contributes to the onset of cystic fibrosis.

Plos One
Coppinger, Judith A JA; Hutt, Darren M DM; Razvi, Abbas A; Koulov, Atanas V AV; Pankow, Sandra S; Yates, John R JR; Balch, William E WE
Publication Date: 2012

Variant appearance in text: CFTR: I539T
PubMed Link: 22701530
Variant Present in the following documents:
  • Main text
  • pone.0037682.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: I539T
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: I539T
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: I539T
PubMed Link: 22265409
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: I539T
PubMed Link: 22210114
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: I539T
PubMed Link: 21594797
Variant Present in the following documents:
  • Main text
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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: I539T
PubMed Link: 21152102
Variant Present in the following documents:
  • Main text
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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: I539T
PubMed Link: 20837481
Variant Present in the following documents:
  • Main text
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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: I539T
PubMed Link: 20667826
Variant Present in the following documents:
  • Main text
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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: I539T
PubMed Link: 20590134
Variant Present in the following documents:
  • Main text
  • bi100807h.pdf
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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: I539T
PubMed Link: 20551307
Variant Present in the following documents:
  • Main text
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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: I539T
PubMed Link: 20233947
Variant Present in the following documents:
  • Main text
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