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

Autor: Pranke IM; Institut Necker-Enfants Malades, INSERM U1151, Université de Paris, Paris, France., Varilh J; PhyMedExp, INSERM U1046, CNRS UMR 9214, Université de Montpellier, Montpellier, France., Hatton A; Institut Necker-Enfants Malades, INSERM U1151, Université de Paris, Paris, France., Faucon C; Centre de Référence Maladies Rares CFTR et Maladies Respiratoires apparentées, Hôpital Necker-Enfants Malades, APHP, Paris, France; Centre Hospitalo-Universitaire de Caen, Caen, France., Girodon E; Institut Necker-Enfants Malades, INSERM U1151, Université de Paris, Paris, France; Laboratoire de Génétique et Biologie Moléculaires, Hôpital Cochin, APHP, Centre-Université de Paris, Paris, France., Dreano E; Institut Necker-Enfants Malades, INSERM U1151, Université de Paris, Paris, France., Chevalier B; Institut Necker-Enfants Malades, INSERM U1151, Université de Paris, Paris, France., Karri S; Institute for Integrative Biology of the Cell, I2BC, CEA, CNRS, Université Paris Sud, Université Paris-Saclay, Gif-sur-Yvette, France., Reix P; Sorbonne Université, Paris, France., Durieu I; Sorbonne Université, Paris, France., Bidou L; Institute for Integrative Biology of the Cell, I2BC, CEA, CNRS, Université Paris Sud, Université Paris-Saclay, Gif-sur-Yvette, France; Sorbonne Université, Paris, France., Namy O; Institute for Integrative Biology of the Cell, I2BC, CEA, CNRS, Université Paris Sud, Université Paris-Saclay, Gif-sur-Yvette, France., Taulan M; PhyMedExp, INSERM U1046, CNRS UMR 9214, Université de Montpellier, Montpellier, France., Hinzpeter A; Institut Necker-Enfants Malades, INSERM U1151, Université de Paris, Paris, France., Sermet-Gaudelus I; Institut Necker-Enfants Malades, INSERM U1151, Université de Paris, Paris, France; PhyMedExp, INSERM U1046, CNRS UMR 9214, Université de Montpellier, Montpellier, France; Centre de référence maladies rares, Hospices civils de Lyon, Lyon, France; ERN-Lung, Brussels, Belgium. Electronic address: isabelle.sermet@aphp.fr.

Publikováno v: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society [J Cyst Fibros] 2023 May; Vol. 22 (3), pp. 560-563. Date of Electronic Publication: 2022 Nov 16.

RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology.

Autor: Benkirane M; Department of Molecular Genetics, Institut Universitaire de Recherche Clinique (IURC), Montpellier Hospital, Montpellier, France.; Genetics and Pathophysiology of NeuroMuscular Disorders, PhyMedExp Research Unit, CNRS, INSERM, University of Montpellier, Montpellier, France., Da Cunha D; Genetics and Pathophysiology of NeuroMuscular Disorders, PhyMedExp Research Unit, CNRS, INSERM, University of Montpellier, Montpellier, France., Marelli C; Department of Neurology, Montpellier Hospital, Montpellier, France.; Molecular Mechanisms of Neurodegenerative Dementia (MMDN), EPHE University of Montpellier, INSERM, Montpellier, France., Larrieu L; Department of Molecular Genetics, Institut Universitaire de Recherche Clinique (IURC), Montpellier Hospital, Montpellier, France., Renaud M; Department of Medical Genetics, Nancy Hospital, Nancy, France., Varilh J; Genetics and Pathophysiology of NeuroMuscular Disorders, PhyMedExp Research Unit, CNRS, INSERM, University of Montpellier, Montpellier, France., Pointaux M; Department of Molecular Genetics, Institut Universitaire de Recherche Clinique (IURC), Montpellier Hospital, Montpellier, France., Baux D; Department of Molecular Genetics, Institut Universitaire de Recherche Clinique (IURC), Montpellier Hospital, Montpellier, France., Ardouin O; Department of Molecular Genetics, Institut Universitaire de Recherche Clinique (IURC), Montpellier Hospital, Montpellier, France., Vangoethem C; Department of Molecular Genetics, Institut Universitaire de Recherche Clinique (IURC), Montpellier Hospital, Montpellier, France., Taulan M; Genetics and Pathophysiology of NeuroMuscular Disorders, PhyMedExp Research Unit, CNRS, INSERM, University of Montpellier, Montpellier, France., Daumas Duport B; Department of Radiology, Nantes Hospital, Nantes, France., Bergougnoux A; Department of Molecular Genetics, Institut Universitaire de Recherche Clinique (IURC), Montpellier Hospital, Montpellier, France.; Genetics and Pathophysiology of NeuroMuscular Disorders, PhyMedExp Research Unit, CNRS, INSERM, University of Montpellier, Montpellier, France., Corbillé AG; Department of Neurology, Nantes Hospital, Nantes, France., Cossée M; Department of Molecular Genetics, Institut Universitaire de Recherche Clinique (IURC), Montpellier Hospital, Montpellier, France.; Genetics and Pathophysiology of NeuroMuscular Disorders, PhyMedExp Research Unit, CNRS, INSERM, University of Montpellier, Montpellier, France., Juntas Morales R; Department of Neurology, Montpellier Hospital, Montpellier, France., Tuffery-Giraud S; Genetics and Pathophysiology of NeuroMuscular Disorders, PhyMedExp Research Unit, CNRS, INSERM, University of Montpellier, Montpellier, France., Koenig M; Department of Molecular Genetics, Institut Universitaire de Recherche Clinique (IURC), Montpellier Hospital, Montpellier, France.; Genetics and Pathophysiology of NeuroMuscular Disorders, PhyMedExp Research Unit, CNRS, INSERM, University of Montpellier, Montpellier, France., Isidor B; Department of Medical Genetics, Nantes Hospital, Nantes, France., Vincent MC; Department of Molecular Genetics, Institut Universitaire de Recherche Clinique (IURC), Montpellier Hospital, Montpellier, France.; Genetics and Pathophysiology of NeuroMuscular Disorders, PhyMedExp Research Unit, CNRS, INSERM, University of Montpellier, Montpellier, France.

Publikováno v: Brain : a journal of neurology [Brain] 2022 Nov 21; Vol. 145 (11), pp. 3770-3775.

CCSP A38G polymorphism in airway epithelium affects CCSP expression

Autor: Knabe, L., Bonini, J., Varilh, J., Fort-Petit, A., Vachier, I., Molinari, N., Chanez, P., Taulan, M., Bourdin, A.

Publikováno v: In Revue des Maladies Respiratoires March 2015 32(3):320-320

Targeted RNA-Seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscle.

Autor: Bougé AL; Université Montpellier, Laboratoire de Génétique de Maladies Rares, EA7402, Montpellier, F-34000, France.; Inserm U827, Montpellier, F-34000, France., Murauer E; Université Montpellier, Laboratoire de Génétique de Maladies Rares, EA7402, Montpellier, F-34000, France.; Inserm U827, Montpellier, F-34000, France., Beyne E; CHU Montpellier, Hôpital Arnaud de Villeneuve, Laboratoire de Génétique Moléculaire, Montpellier, F-34000, France., Miro J; Université Montpellier, Laboratoire de Génétique de Maladies Rares, EA7402, Montpellier, F-34000, France.; Inserm U827, Montpellier, F-34000, France., Varilh J; CHU Montpellier, Hôpital Arnaud de Villeneuve, Laboratoire de Génétique Moléculaire, Montpellier, F-34000, France., Taulan M; Université Montpellier, Laboratoire de Génétique de Maladies Rares, EA7402, Montpellier, F-34000, France.; Inserm U827, Montpellier, F-34000, France., Koenig M; Université Montpellier, Laboratoire de Génétique de Maladies Rares, EA7402, Montpellier, F-34000, France.; CHU Montpellier, Hôpital Arnaud de Villeneuve, Laboratoire de Génétique Moléculaire, Montpellier, F-34000, France., Claustres M; Université Montpellier, Laboratoire de Génétique de Maladies Rares, EA7402, Montpellier, F-34000, France.; Inserm U827, Montpellier, F-34000, France.; CHU Montpellier, Hôpital Arnaud de Villeneuve, Laboratoire de Génétique Moléculaire, Montpellier, F-34000, France., Tuffery-Giraud S; Université Montpellier, Laboratoire de Génétique de Maladies Rares, EA7402, Montpellier, F-34000, France.; Inserm U827, Montpellier, F-34000, France.

Publikováno v: Scientific reports [Sci Rep] 2017 Jan 03; Vol. 7, pp. 39094. Date of Electronic Publication: 2017 Jan 03.

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