Explanipedia

CFTR correctors potentiate gating mutants causing cystic fibrosis Open

Ahmad Elbahnsi, B. Chevalier, Lynda Berri, Madara Dias Wickramanayaka, Aurélie Hatton , et al. · 2025

The Cystic Fibrosis Transmembrane conductance Regulator (CFTR) modulator VX-445 (Elexacaftor) used to treat cystic fibrosis presents both corrector and potentiator activities. This drug binds to a pocket within the CFTR membrane-spanning d…

Beyond Trikafta: new models to assess tissue dependent rescue of N1303K-CFTR Open

Iwona Pranke, Valeria Capurro, B. Chevalier, Emanuela Pesce, Valeria Tomati , et al. · 2025

Rationale Respiratory status of people with Cystic Fibrosis (pwCF) carrying N1303K is improved by Elexacaftor/Tezacaftor/Ivacaftor (ETI) but, contrary to other mutations, the impact on sweat test results is limited. Methods To explore this…

TRPML2 in distinct states reveals the activation and modulation principles of the TRPML family Open

Philip Schmiege, Dawid Jaślan, Michael Fine, Nidish Ponath Sadanandan, Aurélie Hatton , et al. · 2025

TRPML2 activity is critical for endolysosomal integrity and chemokine secretion, and can be modulated by various ligands. Interestingly, two ML-SI3 isomers regulate TRPML2 oppositely. The molecular mechanism underlying this unique isomeric…

Molecular insights into human phosphatidylserine synthase 2 and its regulation of SREBP pathways Open

Dongyu Li, Hongwen Chen, Gonçalo Vale, Nadia Elghobashi‐Meinhardt, Aurélie Hatton , et al. · 2025

Homologous proteins share similar sequences, enabling them to work together in cells to support normal physiological functions. Phosphatidylserine synthases 1 and 2 (PSS1 and PSS2) are homologous enzymes that catalyze the synthesis of phos…

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

Pierre‐Régis Burgel, Isabelle Sermet‐Gaudelus, Emmanuelle Girodon, I. Durieu, Véronique Houdouin , et al. · 2024

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

Sabrina Karri, David Cornu, Claudia Serot, Lynda Biri, Aurélie Hatton , et al. · 2024

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

Mattijs Bulcaen, Phéline Kortleven, Ronald B. Liu, Giulia Maule, Elise Dréano , et al. · 2024

Prime editing is a recent, CRISPR-derived genome editing technology capable of introducing precise nucleotide substitutions, insertions, and deletions. Here, we present prime editing approaches to correct L227R- and N1303K-CFTR, two mutati…

Beyond Kaftrio : mechanistic insights to maximize N1303K-CFTR rescue Open

Iwona Pranke, Valeria Capurro, B. Chevalier, Emanuela Pesce, Valeria Tomati , et al. · 2024

Introduction N1303K is the fourth most frequent Cystic Fibrosis (CF) causing mutation. People with CF (pwCF) clinical status can be improved by Elexacaftor(ELX)/Tezacaftor(TEZ)/Ivacaftor (ETI) combotherapy. We investigated the mechanism un…

Putting bicarbonate on the spot: pharmacological insights for CFTR correction in the airway epithelium Open

Mirosław Zając, Agathe Lepissier, Elise Dréano, B. Chevalier, Aurélie Hatton , et al. · 2023

Introduction: Cystic fibrosis (CF) is caused by defective Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) proteins. CFTR controls chloride (Cl − ) and bicarbonate (HCO 3 − ) transport into the Airway Surface Liquid (ASL). We inv…

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

Annalisa Orenti, Iwona Pranke, Caroline Faucon, Jessica Varilh, Aurélie Hatton , et al. · 2023

Putting Bicarbonate on the spot. Implication for theratyping in Cystic Fibrosis Open

Mirosław Zając, Agathe Lepissier, Elise Dréano, B. Chevalier, Aurélie Hatton , et al. · 2023

Cystic fibrosis (CF) is caused by defective Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein. CFTR controls chloride (Cl - ) and bicarbonate (HCO 3 - ) transport into the Airway Surface Liquid (ASL).We investigated the im…

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

Sabrina Karri, David Cornu, Claudia Serot, Lynda Biri, Aurélie Hatton , et al. · 2023

Nonsense mutations account for 12% of cystic fibrosis (CF) cases. The presence of a premature termination codon (PTC) leads to gene inactivation, which can be countered by the use of drugs stimulating PTC readthrough, restoring production …

The U UGA C sequence provides a favorable context to ELX-02 induced CFTR readthrough Open

Iwona Pranke, Jessica Varilh, Aurélie Hatton, Caroline Faucon, Emmanuelle Girodon , et al. · 2022

Isolation, cultivation, and application of primary respiratory epithelial cells obtained by nasal brushing, polyp samples, or lung explants Open

Anita Golec, Iwona Pranke, Paolo Scudieri, Kate Hayes, Elise Dréano , et al. · 2022

Here, we present a standardized protocol for isolation, maintenance, and polarization of the respiratory epithelial primary cells from patient samples acquired from nasal brushing, polyp specimens, or lung explants. This protocol generates…

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

Mélanie Faria da Cunha, Iwona Pranke, Ali Sassi, Christiane Schreiweis, Stéphanie Moriceau , et al. · 2022

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

Aurélie Hatton, Anne Bergougnoux, K. Zybert, B. Chevalier, Myriam Mesbahi , et al. · 2021

Author Correction: New insights into structure and function of bis-phosphinic acid derivatives and implications for CFTR modulation Open

Sara Bitam, Ahmad Elbahnsi, Geordie Creste, Iwona Pranke, B. Chevalier , et al. · 2021

Sweat Chloride Testing and Nasal Potential Difference (NPD) Are Primary Outcome Parameters in Treatment with Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Modulators Open

Isabelle Sermet‐Gaudelus, Thao Nguyen‐Khoa, Aurélie Hatton, Kate Hayes, Iwona Pranke · 2021

With the advent of CFTR modulators, surrogate outcome parameters that accurately quantify the improvement in CFTR activity are needed. In vivo biomarkers that reflect CFTR ion transport and can serve as outcomes in the treatment of CFTR mo…

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

Yifat S. Oren, Michal Irony‐Tur Sinai, Anita Golec, Ofra Barchad-Avitzur, Venkateshwar Mutyam , et al. · 2021

New insights into structure and function of bis-phosphinic acid derivatives and implications for CFTR modulation Open

Sara Bitam, Ahmad Elbahnsi, Geordie Creste, Iwona Pranke, B. Chevalier , et al. · 2021

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

Yifat S. Oren, Michal Irony‐Tur Sinai, Anita Golec, Ofra Barchad-Avitzur, Venkateshwar Mutyam , et al. · 2021

Antisense oligonucleotide (ASO)-based drugs for splicing modulation were recently been approved for various genetic diseases with unmet need. Here we aimed to develop an ASO-based splicing modulation therapy for Cystic Fibrosis (CF) patien…

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

Elise Dréano, Matthew Bacchetta, Juliette Simonin, Louise Galmiche, Claire Usal , et al. · 2019

Background Genetically engineered animals are essential for gaining a proper understanding of the disease mechanisms of cystic fibrosis (CF). The rat is a relevant laboratory model for CF because of its zootechnical capacity, size, and air…

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

Juliette Simonin, Emmanuelle Bille, Gilles Crambert, Sabrina Noël, Elise Dréano , et al. · 2019

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Unsolved severe chronic rhinosinusitis elucidated by extensive <i>CFTR</i> genotyping Open

Fanny Degrugillier, Stéphanie Simon, Abdel Aissat, Natascha Remus, C. Mekki , et al. · 2019

Severe chronic rhinosinusitis in children should alert clinicians and extensive CFTR genotyping should be performed. We propose that thorough clinical and functional assessment in severe chronic rhinosinusitis is valuable to discover rare …

WS13-2 Whole-cell patch-clamp recordings of CFTR-mediated chloride currents in native and cultured nasal epithelial cells from cystic fibrosis and non-cystic fibrosis subjects Open

Sabrina Noël, Nathalie Servel, Aurélie Hatton, Anita Golec, Aleksander Edelman , et al. · 2019

WS04-2 Bêta-adrenergic sweat evaporimetric test in patients with an inconclusive diagnosis of cystic fibrosis Open

Thao Nguyen‐Khoa, Aurélie Hatton, J. Schlatter, S. Kirilli, Myriam Mesbahi , et al. · 2019

Airway surface liquid acidification initiates host defense abnormalities in Cystic Fibrosis Open

Juliette Simonin, Emmanuelle Bille, Gilles Crambert, Sabrina Noël, Elise Dréano , et al. · 2019

Predictive factors for lumacaftor/ivacaftor clinical response Open

Alexandra Masson, Elena K. Schneider‐Futschik, Nesrine Baatallah, Thao Nguyen‐Khoa, Emmanuelle Girodon , et al. · 2018

WS15.5 Biomarkers to predict Orkambi efficacy: results of a prospective paediatric study Open

Adèle de Masson, Aurélie Hatton, E. Schneider, Laureline Berteloot, Muriel Lebourgeois , et al. · 2018

Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons Open

Iwona Pranke, Laure Bidou, Natacha Martin, Sandra Blanchet, Aurélie Hatton , et al. · 2018

Premature termination codons (PTCs) are generally associated with severe forms of genetic diseases. Readthrough of in-frame PTCs using small molecules is a promising therapeutic approach. Nonetheless, the outcome of preclinical studies has…

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