Publications by authors named "Isabelle Callebaut"

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Hydrophobic cluster analysis at protein and proteome scales.
Isabelle Callebaut, Jean-Paul Mornon

Biochimie· December 2025

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CFTR correctors potentiate gating mutants causing cystic fibrosis.
Solène Castanier, Ahmad Elbahnsi, Benoit Chevalier, Lynda Berri, Madara Dias Wickramanayaka, Isabelle Callebaut

J Cyst Fibros· November 2025

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ABCB4 disease-causing variants S242R, S346I, T437I and T1077M significantly impair its function and display differential sensitivity to potentiators.
Claire Madry, Ahmad Elbahnsi, Jean-Louis Delaunay, Anne Stary, Sylvie Lagaye, Isabelle Callebaut

Sci Rep· November 2025

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Somatic genetic rescue in ZCCHC8-associated telomere biology disorders.
Sophie De Tocqueville, Flavia Donaires, Nicholas F DeCleene, Ibrahima Ba, Mina Nouri, Isabelle Callebaut

Blood· November 2025

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Identification of New Key Players for Ferrous Iron Export in the Asymmetric Inner Gate of Human Ferroportin 1.
Marlène Le Tertre, Ahmad Elbahnsi, Cécile Ged, Kevin Uguen, Isabelle Gourlaouen, Isabelle Callebaut

FASEB J· July 2025

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Correction of a Traffic-Defective Missense ABCB11 Variant Responsible for Progressive Familial Intrahepatic Cholestasis Type 2.
Martine Lapalus, Elodie Mareux, Rachida Amzal, Emmanuelle Drège, Yosra Riahi, Isabelle Callebaut

Int J Mol Sci· May 2025

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The Spectra of Disease-Causing Mutations in the Ferroportin 1 () Encoding Gene and Related Iron Overload Phenotypes (Hemochromatosis Type 4 and Ferroportin Disease).
Kevin Uguen, Chandran Ka, Gwenaelle Collod-Béroud, Marlène Le Tertre, Julie Guellec, Isabelle Callebaut

Hum Mutat· April 2025

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Human oncostatin M deficiency underlies an inherited severe bone marrow failure syndrome.
Alexandrine Garrigue, Laëtitia Kermasson, Sandrine Susini, Ingrid Fert, Christopher B Mahony, Isabelle Callebaut

J Clin Invest· January 2025

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ATP-Binding Cassette and Solute Carrier Transporters: Understanding Their Mechanisms and Drug Modulation Through Structural and Modeling Approaches.
Ahmad Elbahnsi, Balint Dudas, Isabelle Callebaut, Alexandre Hinzpeter, Maria A Miteva

Pharmaceuticals (Basel)· November 2024

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The dual loss and gain of function of the FPN1 iron exporter results in the ferroportin disease phenotype.
Kevin Uguen, Marlène Le Tertre, Dimitri Tchernitchko, Ahmad Elbahnsi, Sandrine Maestri, Isabelle Callebaut

HGG Adv· October 2024

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Novel gain-of-function mutants identify a critical region within CFTR membrane-spanning domain 2 controlling cAMP-dependent and ATP-independent channel activation.
Solène Castanier, Ahmad Elbahnsi, Benoit Chevalier, Nesrine Baatallah, Iwona Pranke, Isabelle Callebaut

Cell Mol Life Sci· October 2024

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Insights into the role of glycerophospholipids on the iron export function of SLC40A1 and the molecular mechanisms of ferroportin disease.
Rim Debbiche, Ahmad Elbahnsi, Kévin Uguen, Chandran Ka, Isabelle Callebaut

FASEB J· July 2024

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Somatic RAP1B gain-of-function variant underlies isolated thrombocytopenia and immunodeficiency.
Marta Benavides-Nieto, Frédéric Adam, Emmanuel Martin, Charlotte Boussard, Chantal Lagresle-Peyrou, Isabelle Callebaut

J Clin Invest· July 2024

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AlphaFold2-guided description of CoBaHMA, a novel family of bacterial domains within the heavy-metal-associated superfamily.
Geoffroy Gaschignard, Maxime Millet, Apolline Bruley, Karim Benzerara, Manuela Dezi, Isabelle Callebaut

Proteins· June 2024

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Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disorders.
Alexis Bertrand, Ibrahima Ba, Laëtitia Kermasson, Vithura Pirabakaran, Noémie Chable, Isabelle Callebaut

Hum Mol Genet· March 2024

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Toxoplasma membrane inositol phospholipid binding protein TgREMIND is essential for secretory organelle function and host infection.
Rodrigue Houngue, Lamba Omar Sangaré, Tchilabalo Dilezitoko Alayi, Aissatou Dieng, Tristan Bitard-Feildel, Isabelle Callebaut

Cell Rep· January 2024

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MiniBAR/GARRE1 is a dual Rac and Rab effector required for ciliogenesis.
Murielle P Serres, Ronan Shaughnessy, Sophie Escot, Hussein Hammich, Frédérique Cuvelier, Isabelle Callebaut

Dev Cell· November 2023

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DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity.
Charlotte Boussard, Laure Delage, Tania Gajardo, Alexandre Kauskot, Maxime Batignes, Isabelle Callebaut

Blood· June 2023

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AQP5, a second gene at play with CFTR in aquagenic palmoplantar keratoderma.
Brian Sperelakis-Beedham, Maureen Lopez, Emmanuelle Bourrat, Natacha Gaitch, Florence Houriez, Isabelle Callebaut

J Eur Acad Dermatol Venereol· May 2023

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A sequence-based foldability score combined with AlphaFold2 predictions to disentangle the protein order/disorder continuum.
Apolline Bruley, Tristan Bitard-Feildel, Isabelle Callebaut, Elodie Duprat

Proteins· April 2023

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Structure basis of CFTR folding, function and pharmacology.
Tzyh-Chang Hwang, Ineke Braakman, Peter van der Sluijs, Isabelle Callebaut

J Cyst Fibros· March 2023

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Ivacaftor-Mediated Potentiation of ABCB4 Missense Mutations Affecting Critical Motifs of the NBDs: Repositioning Perspectives for Hepatobiliary Diseases.
Jean-Louis Delaunay, Ahmad Elbahnsi, Alix Bruneau, Claire Madry, Anne-Marie Durand-Schneider, Isabelle Callebaut

Int J Mol Sci· January 2023

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Acting on the CFTR Membrane-Spanning Domains Interface Rescues Some Misfolded Mutants.
Nesrine Baatallah, Ahmad Elbahnsi, Benoit Chevalier, Solène Castanier, Jean-Paul Mornon, Isabelle Callebaut

Int J Mol Sci· December 2022

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Digging into the 3D Structure Predictions of AlphaFold2 with Low Confidence: Disorder and Beyond.
Apolline Bruley, Jean-Paul Mornon, Elodie Duprat, Isabelle Callebaut

Biomolecules· October 2022

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In Vitro Rescue of the Bile Acid Transport Function of ABCB11 Variants by CFTR Potentiators.
Elodie Mareux, Martine Lapalus, Amel Ben Saad, Renaud Zelli, Mounia Lakli, Isabelle Callebaut

Int J Mol Sci· September 2022

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