TLN468 changes the pattern of tRNA used to read through premature termination codons in CFTR

Authors: Karri, Sabrina, Cornu, David, Serot, Claudia, Biri, Lynda, Hatton, Aurélie, Dréanot, Elise, Rullaud, Camille, Pranke, Iwona, Sermet-Gaudelus, Isabelle, Hinzpeter, Alexandre, Bidou, Laure, Namy, Olivier

Source: In Journal of Cystic Fibrosis November 2024 23(6):1185-1194

The expanded French compassionate programme for elexacaftor–tezacaftor–ivacaftor use in people with cystic fibrosis without a F508del CFTR variant: a real-world study

Authors: Kanaan, Reem, Carlier, Nicolas, Honoré, Isabelle, Chedevergne, Frédérique, Dreano, Elise, Hatton, Aurélie, Hinzpeter, Alexandre, Pranke, Iwona, Le Clainche-Viala, Laurence, Mayer, Sophie, Corvol, Harriet, Thouvenin, Guillaume, de Miranda, Sandra, Remus, Natascha, Douvry, Benoit, Duthoit, Louise, Perez, Thierry, Le Rouzic, Olivier, Wizla, Nathalie, Bon, Claire, Bui, Stéphanie, Poey, Nora, Stremler, Nathalie, Coltey, Bérengère, Dufeu, Nadine, Lebihan, Jean, Gabsi, Asma, Pouradier, Delphine, Andrejak, Claire, Rames, Cinthia, Dupuy-Grasset, Magali, Languepin, Jeanne, Marguet, Christophe, Pramil, Stéphanie, Arnouat, Baptiste, Fanton, Annlyse, Abely, Michel, Ravoninjatovo, Bruno, Blondé, Aurore, Guillaumot, Anne, Kieffer, Sebastien, Tatopoulos, Aurélie, Nove-Josserand, Raphaële, Ohlmann, Camille, Perrin, Thomas, Reynaud, Quitterie, Llerena, Catherine, Quétant, Sébastien, Valois, Sophie, Dalphin, Marie-Laure, Richaud-Thiriez, Bénédicte, Deneuville, Eric, Chiron, Raphael, Socchi, Floriane, Bihouée, Tiphaine, Mankikian, Julie, Flament, Thomas, Coolen-Allou, Nathalie, Gachelin, Elsa, Périsson, Caroline, Vuillard, Constance, Dupuis, Marion, Alkoussa, Wael, Marchal, Sarah, Leroy, Sylvie, Scalbert, Manuela, Campbell, Karine, Laurans, Muriel, Labbé, Guillaume, Montcouquiol, Sylvie, Priou, Pascaline, de Carli, Paola, Lemonnier, Lydie, Dehillotte, Clémence, Nouvel, Thierry, Burgel, Pierre-Régis ^*, Sermet-Gaudelus, Isabelle, Girodon, Emmanuelle, Durieu, Isabelle, Houdouin, Véronique, Audousset, Camille, Macey, Julie, Grenet, Dominique, Porzio, Michele, Murris-Espin, Marlène, Reix, Philippe, Baravalle, Mélisande, Belleguic, Chantal, Mely, Laurent, Verhille, Juliette, Weiss, Laurence, Reynaud-Gaubert, Martine, Mittaine, Marie, Hamidfar, Rebecca, Ramel, Sophie, Cosson, Laure, Danner-Boucher, Isabelle, Foucaud, Pierre, Roy, Charlotte, Burnet, Espérie, Raynal, Caroline, Audrezet, Marie-Pierre, Da Silva, Jennifer, Martin, Clémence

Source: In The Lancet Respiratory Medicine November 2024 12(11):888-900

Prime editing functionally corrects cystic fibrosis-causing CFTR mutations in human organoids and airway epithelial cells

Authors: Bulcaen, Mattijs, Kortleven, Phéline, Liu, Ronald B., Maule, Giulia, Dreano, Elise, Kelly, Mairead, Ensinck, Marjolein M., Thierie, Sam, Smits, Maxime, Ciciani, Matteo, Hatton, Aurelie, Chevalier, Benoit, Ramalho, Anabela S., Casadevall i Solvas, Xavier, Debyser, Zeger, Vermeulen, François, Gijsbers, Rik, Sermet-Gaudelus, Isabelle, Cereseto, Anna, Carlon, Marianne S.

Source: In Cell Reports Medicine 21 May 2024 5(5)

Nonsense mutations accelerate lung disease and decrease survival of cystic fibrosis children

Authors: Orenti, Annalisa ^*, Pranke, Iwona ^*, Faucon, Caroline, Varilh, Jessica, Hatton, Aurelie, Golec, Anita, Dehillotte, Clemence, Durieu, Isabelle, Reix, Philippe, Burgel, Pierre-Régis, Grenet, Dominique, Tasset, Céline, Gachelin, Elsa, Perisson, Caroline, Lepissier, Agathe, Dreano, Elise, Tondelier, Danielle, Chevalier, Benoit, Weiss, Laurence, Kiefer, Sébastien, Laurans, Muriel, Chiron, Raphael, Lemonnier, Lydie, Marguet, Christophe, Jung, Andreas, Edelman, Aleksander, Kerem, Bat-Sheva, Girodon, Emmanuelle, Taulan-Cadars, Magali, Hinzpeter, Alexandre, Kerem, Eitan, Naehrlich, Lutz, Sermet-Gaudelus, Isabelle

Source: In Journal of Cystic Fibrosis November 2023 22(6):1070-1079

Correlating genotype with phenotype using CFTR‐mediated whole‐cell Cl− currents in human nasal epithelial cells

Authors: Noel, Sabrina, Servel, Nathalie, Hatton, Aurélie, Golec, Anita, Rodrat, Mayuree, Ng, Demi R. S., Li, Hongyu, Pranke, Iwona, Hinzpeter, Alexandre, Edelman, Aleksander, Sheppard, David N., Sermet‐Gaudelus, Isabelle

Source: Journal of physiology. 600(6):1515-1531

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100154952383.0x000001&indx=1&recIds=ETOCvdc_100154952383.0x000001

Reclassifying inconclusive diagnosis after newborn screening for cystic fibrosis. Moving forward

Authors: Hatton, Aurelie, Bergougnoux, Anne, Zybert, Katarzyna, Chevalier, Benoit, Mesbahi, Myriam, Altéri, Jean Pierre, Walicka-Serzysko, Katarzyna, Postek, Magdalena, Taulan-Cadars, Magali, Edelman, Aleksander, Hinzpeter, Alexandre, Claustres, Mireille, Girodon, Emmanuelle, Raynal, Caroline, Sermet-Gaudelus, Isabelle, Sands, Dorota

Source: In Journal of Cystic Fibrosis May 2022 21(3):448-455

Antisense oligonucleotide-based drug development for Cystic Fibrosis patients carrying the 3849+10 kb C-to-T splicing mutation

Authors: Oren, Yifat S., Irony-Tur Sinai, Michal, Golec, Anita, Barchad-Avitzur, Ofra, Mutyam, Venkateshwar, Li, Yao, Hong, Jeong, Ozeri-Galai, Efrat, Hatton, Aurélie, Leibson, Chen, Carmel, Liran, Reiter, Joel, Sorscher, Eric J., Wilton, Steve D., Kerem, Eitan, Rowe, Steven M., Sermet-Gaudelus, Isabelle, Kerem, Batsheva

Source: In Journal of Cystic Fibrosis September 2021 20(5):865-875

Predictive factors for lumacaftor/ivacaftor clinical response

Authors: Masson, Alexandra, Schneider-Futschik, Elena K., Baatallah, Nesrine, Nguyen-Khoa, Thao, Girodon, Emmanuelle, Hatton, Aurélie, Flament, Thomas, Le Bourgeois, Muriel, Chedevergne, Frederique, Bailly, Céline, Kyrilli, Sylvia, Achimastos, Diane, Hinzpeter, Alexandre, Edelman, Aleksander, Sermet-Gaudelus, Isabelle

Source: In Journal of Cystic Fibrosis May 2019 18(3):368-374

The expanded French compassionate programme for elexacaftor–tezacaftor–ivacaftor use in people with cystic fibrosis without a F508del CFTRvariant: a real-world study

Authors: Burgel, Pierre-Régis, Sermet-Gaudelus, Isabelle, Girodon, Emmanuelle, Durieu, Isabelle, Houdouin, Véronique, Audousset, Camille, Macey, Julie, Grenet, Dominique, Porzio, Michele, Murris-Espin, Marlène, Reix, Philippe, Baravalle, Mélisande, Belleguic, Chantal, Mely, Laurent, Verhille, Juliette, Weiss, Laurence, Reynaud-Gaubert, Martine, Mittaine, Marie, Hamidfar, Rebecca, Ramel, Sophie, Cosson, Laure, Douvry, Benoit, Danner-Boucher, Isabelle, Foucaud, Pierre, Roy, Charlotte, Burnet, Espérie, Raynal, Caroline, Audrezet, Marie-Pierre, Da Silva, Jennifer, Martin, Clémence, Kanaan, Reem, Carlier, Nicolas, Honoré, Isabelle, Chedevergne, Frédérique, Dreano, Elise, Hatton, Aurélie, Hinzpeter, Alexandre, Pranke, Iwona, Le Clainche-Viala, Laurence, Mayer, Sophie, Corvol, Harriet, Thouvenin, Guillaume, de Miranda, Sandra, Remus, Natascha, Douvry, Benoit, Duthoit, Louise, Perez, Thierry, Le Rouzic, Olivier, Wizla, Nathalie, Bon, Claire, Bui, Stéphanie, Poey, Nora, Stremler, Nathalie, Coltey, Bérengère, Dufeu, Nadine, Lebihan, Jean, Gabsi, Asma, Pouradier, Delphine, Andrejak, Claire, Rames, Cinthia, Dupuy-Grasset, Magali, Languepin, Jeanne, Marguet, Christophe, Pramil, Stéphanie, Arnouat, Baptiste, Fanton, Annlyse, Abely, Michel, Ravoninjatovo, Bruno, Blondé, Aurore, Guillaumot, Anne, Kieffer, Sebastien, Tatopoulos, Aurélie, Nove-Josserand, Raphaële, Ohlmann, Camille, Perrin, Thomas, Reynaud, Quitterie, Llerena, Catherine, Quétant, Sébastien, Valois, Sophie, Dalphin, Marie-Laure, Richaud-Thiriez, Bénédicte, Deneuville, Eric, Chiron, Raphael, Socchi, Floriane, Bihouée, Tiphaine, Mankikian, Julie, Flament, Thomas, Coolen-Allou, Nathalie, Gachelin, Elsa, Périsson, Caroline, Vuillard, Constance, Dupuis, Marion, Alkoussa, Wael, Marchal, Sarah, Leroy, Sylvie, Scalbert, Manuela, Campbell, Karine, Laurans, Muriel, Labbé, Guillaume, Montcouquiol, Sylvie, Priou, Pascaline, de Carli, Paola, Lemonnier, Lydie, Dehillotte, Clémence, Nouvel, Thierry

Source: The Lancet Respiratory Medicine; November 2024, Vol. 12 Issue: 11 p888-900, 13p

Resolvin D1 regulates epithelial ion transport and inflammation in cystic fibrosis airways

Authors: Ringholz, Fiona C., Higgins, Gerard, Hatton, Aurélie, Sassi, Ali, Moukachar, Ahmad, Fustero-Torre, Coral, Hollenhorst, Monika, Sermet-Gaudelus, Isabelle, Harvey, Brian J., McNally, Paul, Urbach, Valerie

Source: In Journal of Cystic Fibrosis September 2018 17(5):607-615

Airway surface liquid acidification initiates host defense abnormalities in Cystic Fibrosis

Authors: Simonin, Juliette, Bille, Emmanuelle, Crambert, Gilles, Noel, Sabrina, Dreano, Elise, Edwards, Aurélie, Hatton, Aurélie, Pranke, Iwona, Villeret, Bérengère, Cottart, Charles-Henry, Vrel, Jean-Patrick, Urbach, Valérie, Baatallah, Nesrine, Hinzpeter, Alexandre, Golec, Anita, Touqui, Lhousseine, Nassif, Xavier, Galietta, Luis, Planelles, Gabrielle, Sallenave, Jean-Michel, Edelman, Aleksander, Sermet-Gaudelus, Isabelle

Source: Scientific reports. 9(1):1-11

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100133349734.0x000001&indx=1&recIds=ETOCvdc_100133349734.0x000001

Characterization of two rat models of cystic fibrosis—KO and F508del CFTR—Generated by Crispr‐Cas9

Authors: Dreano, Elise, Bacchetta, Marc, Simonin, Juliette, Galmiche, Louise, Usal, Claire, Slimani, Lotfi, Sadoine, Jérémy, Tesson, Laurent, Anegon, Ignacio, Concordet, Jean‐Paul, Hatton, Aurélie, Vignaud, Lucile, Tondelier, Danielle, Sermet‐Gaudelus, Isabelle, Chanson, Marc, Cottart, Charles‐Henry

Source: Animal models and experimental medicine. 2(4):297-311

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100094961447.0x000001&indx=1&recIds=ETOCvdc_100094961447.0x000001

Unsolved severe chronic rhinosinusitis elucidated by extensive CFTR genotyping

Authors: Degrugillier, Fanny, Simon, Stéphanie, Aissat, Abdel, Remus, Natascha, Mekki, Chadia, Decrouy, Xavier, Hatton, Aurélie, Hinzpeter, Alexandre, Hoffmann, Brice, Sermet‐Gaudelus, Isabelle, Callebaut, Isabelle, Fanen, Pascale, Prulière‐Escabasse, Virginie

Source: Clinical case reports. 7(11):2128-2134

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100093529792.0x000001&indx=1&recIds=ETOCvdc_100093529792.0x000001

Analysis of nasal potential in murine cystic fibrosis models

Authors: da Cunha, Mélanie Faria, Simonin, Juliette, Sassi, Ali, Freund, Romain, Hatton, Aurélie, Cottart, Charles-Henry, Elganfoud, Nadia, Zoubairi, Rachid, Dragu, Corina, Jais, Jean Philippe, Hinzpeter, Alexandre, Edelman, Aleksander, Sermet-Gaudelus, Isabelle

Source: In International Journal of Biochemistry and Cell Biology November 2016 80:87-97

Rattlesnake Phospholipase A2 Increases CFTR-Chloride Channel Current and Corrects ∆ F508CFTR Dysfunction: Impact in Cystic Fibrosis

Authors: Faure, Grazyna, Bakouh, Naziha, Lourdel, Stéphane, Odolczyk, Norbert, Premchandar, Aiswarya, Servel, Nathalie, Hatton, Aurélie, Ostrowski, Maciej K., Xu, Haijin, Saul, Frederick A., Moquereau, Christelle, Bitam, Sara, Pranke, Iwona, Planelles, Gabrielle, Teulon, Jacques, Herrmann, Harald, Roldan, Ariel, Zielenkiewicz, Piotr, Dadlez, Michal, Lukacs, Gergely L., Sermet-Gaudelus, Isabelle, Ollero, Mario, Corringer, Pierre-Jean, Edelman, Aleksander

Source: In Journal of Molecular Biology 17 July 2016 428(14):2898-2915

Correction of CFTR function in nasal epithelial cells from cystic fibrosis patients predicts improvement of respiratory function by CFTR modulators

Authors: Pranke, Iwona, Hatton, Aurélie, Simonin, Juliette, Jais, Jean, Le Pimpec-Barthes, Françoise, Carsin, Ania, Bonnette, Pierre, Fayon, Michael, Stremler-Le Bel, Nathalie, Grenet, Dominique, Thumerel, Matthieu, Mazenq, Julie, Urbach, Valerie, Mesbahi, Myriam, Girodon-Boulandet, Emanuelle, Hinzpeter, Alexandre, Edelman, Aleksander, Sermet-Gaudelus, Isabelle

Source: Scientific reports. 7(1):1-11

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100174855576.0x000001&indx=1&recIds=ETOCvdc_100174855576.0x000001

Genetic deletion of keratin 8 corrects the altered bone formation and osteopenia in a mouse model of cystic fibrosis

Authors: Le Henaff, Carole, Faria Da Cunha, Mélanie, Hatton, Aurélie, Tondelier, Danielle, Marty, Caroline, Collet, Corinne, Zarka, Mylène, Geoffroy, Valérie, Zatloukal, Kurt, Laplantine, Emmanuel, Edelman, Aleksander, Sermet-Gaudelus, Isabelle, Marie, Pierre J.

Source: Human molecular genetics. 25(7):1281-1293

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100074714870.0x000001&indx=1&recIds=ETOCvdc_100074714870.0x000001

Author Correction: Airway surface liquid acidification initiates host defense abnormalities in Cystic Fibrosis

Authors: Simonin, Juliette, Bille, Emmanuelle, Crambert, Gilles, Noel, Sabrina, Dreano, Elise, Edwards, Aurélie, Hatton, Aurélie, Pranke, Iwona, Villeret, Bérengère, Cottart, Charles-Henry, Vrel, Jean-Patrick, Urbach, Valérie, Baatallah, Nesrine, Hinzpeter, Alexandre, Golec, Anita, Touqui, Lhousseine, Nassif, Xavier, Galietta, Luis J. V., Planelles, Gabrielle, Sallenave, Jean-Michel, Edelman, Aleksander, Sermet-Gaudelus, Isabelle

Source: Scientific reports. 9(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100131406517.0x000001&indx=1&recIds=ETOCvdc_100131406517.0x000001

Systemic bis-phosphinic acid derivative restores chloride transport in Cystic Fibrosis mice.

Authors: da Cunha, Mélanie Faria, Pranke, Iwona, Sassi, Ali, Schreiweis, Christiane, Moriceau, Stéphanie, Vidovic, Dragana, Hatton, Aurélie, Carlon, Mariane Sylvia, Creste, Geordie, Berhal, Farouk, Prestat, Guillaume, Freund, Romain, Odolczyk, Norbert, Jais, Jean Philippe, Gravier-Pelletier, Christine, Zielenkiewicz, Piotr, Jullien, Vincent, Hinzpeter, Alexandre, Oury, Franck, Edelman, Aleksander

Source: Scientific Reports; 4/12/2022, Vol. 12 Issue 1, p1-9, 9p

Subject Terms: CYSTIC fibrosis transmembrane conductance regulator, CYSTIC fibrosis, ACID derivatives

Correlating genotype with phenotype using CFTR‐mediated whole‐cell Cl⁻ currents in human nasal epithelial cells.

Authors: Noel, Sabrina, Servel, Nathalie, Hatton, Aurélie, Golec, Anita, Rodrat, Mayuree, Ng, Demi R. S., Li, Hongyu, Pranke, Iwona, Hinzpeter, Alexandre, Edelman, Aleksander, Sheppard, David N., Sermet‐Gaudelus, Isabelle

Source: Journal of Physiology; Mar2022, Vol. 600 Issue 6, p1515-1531, 17p

Subject Terms: CYSTIC fibrosis transmembrane conductance regulator, EPITHELIAL cells, ION channels, VOLTAGE-gated ion channels, NASAL mucosa