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1. Meeting report: The 2022 FSHD International Research Congress

Author

Doris G. Leung, June Kinoshita, Jamshid Arjomand, Julie Dumonceaux, Russell J Butterfield, Amy E. Campbell, Yi-Wen Chen, Frederique Magdinier, Valeria Sansone, Giorgio Tasca, Yegor Vassetzky, Lindsay M. Wallace, Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), and AFM Telethon , AMRA , Armatus Bio , Arrowhead Pharmaceuticals ,Avidity Biosciences , Dyne Therapeutics , FSHD Canada Foundation ,Fulcrum Therapeutics , James Chin , Sr. Scholarship Fund , MDA(Muscular Dystrophy Association) , miRecule , National Instituteof Health (NIH) , Perkin Elmer Genomics , Ultragenyx , Universityof Massachusetts Wellstone Center for FSH Muscular DystrophyResearch

Subjects
[SDV.GEN]Life Sciences [q-bio]/Genetics, Neurology, [SDV]Life Sciences [q-bio], Pediatrics, Perinatology and Child Health, Neurology (clinical), [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Genetics (clinical)
Abstract

International audience

Published
2023
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3. Meeting report: The 2022 FSHD International Research Congress

Author

Leung, Doris G., primary, Kinoshita, June, additional, Arjomand, Jamshid, additional, Dumonceaux, Julie, additional, Butterfield, Russell J, additional, Campbell, Amy E., additional, Chen, Yi-Wen, additional, Leung, Doris G., additional, Magdinier, Frederique, additional, Sansone, Valeria, additional, Tasca, Giorgio, additional, Vassetzky, Yegor, additional, and Wallace, Lindsay M., additional

Published
2023
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4. 1st FSHD European Trial Network workshop:Working towards trial readiness across Europe

Author

N.C. Voermans, M. Vriens-Munoz Bravo, G.W. Padberg, P. Laforêt, N. van Alfen, S. Attarian, U.A. Badrising, E. Bugiardini, P. Camano González, R.Y. Carlier, I. Desguerre, J. Diaz-Manera, J. Dumonceaux, B.G. van Engelen, T. Evangelista, S. Khosla, A. López de Munain, S.M. van der Maarel, A. Mejat, M. Monforte, F. Montagnese, K. Mul, P. Oflazer, B. Porter, S. Quijano-Roy, E. Ricci, S. Sacconi, V.A. Sansone, B. Schoser, J. Statland, E. Stumpe, G. Tasca, R. Tawil, C. Turner, and J. Vissing

Subjects
Gerontology, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], business, Genetics (clinical)
Abstract

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Published
2021
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10. 1st FSHD European Trial Network workshop:Working towards trial readiness across Europe

Author

Voermans, N.C., primary, Vriens-Munoz Bravo, M., additional, Padberg, G.W., additional, Laforêt, P., additional, van Alfen, N., additional, Attarian, S., additional, Badrising, U.A., additional, Bugiardini, E., additional, González, P. Camano, additional, Carlier, R.Y., additional, Desguerre, I., additional, Diaz-Manera, J., additional, Dumonceaux, J., additional, van Engelen, B.G., additional, Evangelista, T., additional, Khosla, S., additional, de Munain, A. López, additional, van der Maarel, S.M., additional, Mejat, A., additional, Monforte, M., additional, Montagnese, F., additional, Mul, K., additional, Oflazer, P., additional, Porter, B., additional, Quijano-Roy, S., additional, Ricci, E., additional, Sacconi, S., additional, Sansone, V.A., additional, Schoser, B., additional, Statland, J., additional, Stumpe, E., additional, Tasca, G., additional, Tawil, R., additional, Turner, C., additional, and Vissing, J., additional

Published
2021
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11. 268th ENMC workshop - Genetic diagnosis, clinical classification, outcome measures, and biomarkers in Facioscapulohumeral Muscular Dystrophy (FSHD): Relevance for clinical trials

Author

Tasca, Giorgio, Gomez-Rodulfo, Maria, Voermans, Nicol, Sacconi, Sabrina, Montagnese, Federica, de Valle, Katy, Lemmers, Richard, Dumonceaux, Julie, Camano, Pilar, Giardina, Emiliano, van der Stoep, Nienke, Burton-Jones, Sarah, Magdinier, Frederique, Race, Valerie, Hawkins, Sheila, Mejat, Alexandre, Oflazer, Piraye, Guizzaro, Lorenzo, Arjomand, Jamshid, Pereon, Yann, Ricci, Giulia, Bugiardini, Enrico, Belayew, Alexandra, Lemmers, Richard J.L.F., and Mul, Karlien

Published
2023
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13. NEW INSIGHTS INTO CELLULAR FUNCTIONS

Author

Gall, I. Le, primary, Lucas, O., additional, Roquevière, S., additional, Mariot, V., additional, Dumonceaux, J., additional, Ouandaogo, G., additional, TRANE study, G., additional, Ratti, F., additional, Mejat, A., additional, Durieux, A., additional, Gonzales De Aguilar, J., additional, Martinat, C., additional, Knoblach, S., additional, Raoul, C., additional, Duddy, W., additional, Pradat, P., additional, and Duguez, S., additional

Published
2018
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16. Reversible endogenous downregulation of myostatin pathway in wasting neuromuscular diseases explains challenges of anti-myostatin therapeutic approaches

Author

Pedro Machado, Thierry Maisonobe, J. Dumonceaux, Olivier Benveniste, L. Servais, T. Stojkovic, T. Voit, R. Joubert, Christophe Hourdé, Anna Buj-Bello, R. Le Panse, Francesco Muntoni, Léonard Féasson, Michael G. Hanna, Virginie Mariot, Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (INTEGRARE), Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay-Généthon, and Généthon

Subjects
biology, business.industry, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Endogeny, Myostatin, 3. Good health, Neurology, Downregulation and upregulation, Pediatrics, Perinatology and Child Health, biology.protein, Cancer research, Medicine, Neurology (clinical), medicine.symptom, business, Wasting, ComputingMilieux_MISCELLANEOUS, Genetics (clinical)
Abstract

International audience

Published
2017
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17. NEW THERAPEUTIC APPROACHES AND THEIR READOUT

Author

Marie Montus, T. Voit, Virginie Mariot, Inès Barthélémy, J. Dumonceaux, Christophe Hourdé, S. Blot, and C. Le Guiner

Subjects
03 medical and health sciences, 0302 clinical medicine, Neurology, business.industry, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), business, 030217 neurology & neurosurgery, Genetics (clinical)
Published
2018
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18. NEW INSIGHTS INTO CELLULAR FUNCTIONS

Author

I. Le Gall, Cédric Raoul, Pierre-François Pradat, JL Gonzales De Aguilar, C. Martinat, F. Ratti, Julie Dumonceaux, S. Roquevière, S. Knoblach, O. Lucas, G. Trane study, Virginie Mariot, A. Durieux, Stephanie Duguez, William Duddy, A. Mejat, and G. Ouandaogo

Subjects
Neurology, Pediatrics, Perinatology and Child Health, Cellular functions, Neurology (clinical), Computational biology, Genetics (clinical)
Published
2018
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19. Myostatin expression in neuromuscular diseases

Author

J. Dumonceaux, Marie Montus, T. Voit, Stéphane Blot, C. Le Guiner, B. Inès, Christophe Hourdé, and Virginie Mariot

Subjects
medicine.medical_specialty, Endocrinology, Neurology, biology, Expression (architecture), Internal medicine, Pediatrics, Perinatology and Child Health, biology.protein, medicine, Neurology (clinical), Myostatin, Genetics (clinical)
Published
2018
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20. Myostatin is a reliable biomarker for monitoring drug response in DMD

Author

Virginie Mariot, J. Dumonceaux, T. Voit, C. Le Guiner, Marie Montus, B. Inès, S. Blot, and Christophe Hourdé

Subjects
Neurology, biology, business.industry, Pediatrics, Perinatology and Child Health, biology.protein, Cancer research, Drug response, Biomarker (medicine), Medicine, Neurology (clinical), Myostatin, business, Genetics (clinical)
Published
2018
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21. Myostatin expression levels in neuromuscular diseases participates in anti-myostatin clinical failure

Author

Mariot, V., primary, Joubert, R., additional, Hourdé, C., additional, Féasson, L., additional, Hanna, M., additional, Muntoni, F., additional, Maisonobe, T., additional, Servais, L., additional, Panse, R. Le, additional, Benveniste, O., additional, Stojkovic, T., additional, Machado, P., additional, Voit, T., additional, Buj-Bello, A., additional, and Dumonceaux, J., additional

Published
2017
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22. Reversible endogenous downregulation of myostatin pathway in wasting neuromuscular diseases explains challenges of anti-myostatin therapeutic approaches

Author

Mariot, V., primary, Joubert, R., additional, Hourdé, C., additional, Féasson, L., additional, Hanna, M., additional, Muntoni, F., additional, Maisonobe, T., additional, Servais, L., additional, Le Panse, R., additional, Benveniste, O., additional, Stojkovic, T., additional, Machado, P., additional, Voit, T., additional, Buj-Bello, A., additional, and Dumonceaux, J., additional

Published
2017
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23. Myostatin inhibition for neuromuscular disorders: defining the good candidate

Author

Mariot, V., primary, Joubert, R., additional, Hourdé, C., additional, Servais, L., additional, Hanna, M.G., additional, Maisonobe, T., additional, Muntoni, F., additional, Féasson, L., additional, Le Panse, R., additional, Benvensite, O., additional, Stojkovic, T., additional, Buj-Bello, A., additional, Machado, P., additional, Voit, T., additional, and Dumonceaux, J., additional

Published
2017
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24. Myostatin inhibition for neuromuscular disorders: defining the good candidate

Author

J. Dumonceaux, Christophe Hourdé, R. Le Panse, Virginie Mariot, Pedro Machado, L. Servais, Thierry Maisonobe, Anna Buj-Bello, O. Benvensite, R. Joubert, T. Stojkovic, Francesco Muntoni, Léonard Féasson, Michael G. Hanna, and T. Voit

Subjects
0301 basic medicine, medicine.medical_specialty, biology, business.industry, Myostatin, Bioinformatics, 03 medical and health sciences, 030104 developmental biology, Endocrinology, Neurology, Internal medicine, Pediatrics, Perinatology and Child Health, biology.protein, medicine, Neurology (clinical), business, Genetics (clinical)
Published
2017
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27. Correlation between low FAT1 expression and early affected muscle in FSHD

Author

Mariot, V., primary, Roche, S., additional, Hourdé, C., additional, Portilho, D., additional, Sacconi, S., additional, Puppo, F., additional, Duguez, S., additional, Rameau, P., additional, Caruso, N., additional, Delezoide, A., additional, Desnuelle, C., additional, Bessières, B., additional, Collardeau, S., additional, Feasson, L., additional, Maisonobe, T., additional, Magdinier, F., additional, Helmbacher, F., additional, Butler-Browne, G., additional, Mouly, V., additional, and Dumonceaux, J., additional

Published
2015
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29. Correlation between low FAT1 expression and early affected muscle in FSHD

Author

Frédérique Magdinier, Françoise Helmbacher, Philippe Rameau, Claude Desnuelle, Julie Dumonceaux, Virginie Mariot, Débora M. Portilho, Vincent Mouly, Anne-Lise Delezoide, Francesca Puppo, Gillian Butler-Browne, Stephanie Duguez, Bettina Bessières, Nathalie Caruso, Sophie Collardeau, Stéphane Roche, Thierry Maisonobe, Christophe Hourdé, Sabrina Sacconi, and Léonard Féasson

Subjects
Andrology, Correlation, Neurology, Expression (architecture), Pediatrics, Perinatology and Child Health, Neurology (clinical), Biology, Genetics (clinical), FAT1
Published
2015
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32. P.16.3 DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles

Author

Ferreboeuf, M., primary, Mariot, V., additional, Bessières, B., additional, Vasiljevic, A., additional, Attié-Bitach, T., additional, Collardeau, S., additional, Roche, S., additional, Magdinier, F., additional, Robin-Ducellier, J., additional, Rameau, P., additional, Whalen, S., additional, Sacconi, S., additional, Mouly, V., additional, Butler-Browne, G., additional, and Dumonceaux, J., additional

Published
2013
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33. P.16.3 DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles

Author

Vincent Mouly, Sabrina Sacconi, Stéphane Roche, Sandra Whalen, Maxime Ferreboeuf, Philippe Rameau, Jérôme Robin-Ducellier, Gillian Butler-Browne, Frédérique Magdinier, Alexandre Vasiljevic, Tania Attié-Bitach, Virginie Mariot, Sophie Collardeau, Julie Dumonceaux, and Bettina Bessières

Subjects
musculoskeletal diseases, Gene isoform, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Biology, Small hairpin RNA, 03 medical and health sciences, 0302 clinical medicine, DUX4, medicine, Muscular dystrophy, Gene, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Fetus, Messenger RNA, Myogenesis, Anatomy, medicine.disease, 3. Good health, Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), 030217 neurology & neurosurgery
Abstract

The facio scapulo humeral dystrophy (FSHD) is the third most prevalent muscular dystrophy. The common clinical signs usually appear during the second decade of life but when the first molecular dysregulations occur is still unknown. Our aim was to determine whether molecular dysregulations can be identified during FSHD fetal muscle development. We compared 2 muscle biopsies coming from one FSHD fetus and the cells derived from these biopsies with biopsies and cells coming from control fetuses. We mainly focus on DUX4 isoform expression since the expression of DUX4 has been confirmed in both FSHD cells and biopsies by several laboratories. We measured by qRT-PCR DUX4 isoforms expression in fetal FSDH myotubes treated or not with a shRNA directed against DUX4 mRNA. We also analyzed DUX4 downstream genes expression in myotubes and fetal or adult FSDH and control quadriceps biopsies. We show that DUX4-FL is not expressed in control myotubes whereas it is expressed FSHD myotubes. Interestingly, DUX4-FL expression level is much lower in trapezius than in quadriceps myotubes which is confirmed by the level of expression of DUX4 downstream genes: We observed that TRIM43 and MBD3L2 are already overexpressed in FSHD fetal quadriceps biopsies, at similar levels at those observed in adult FSHD quadriceps biopsies. These results indicate that molecular markers of the disease are already expressed during fetal life, raising the question as to the role of DUX4 in the onset and progression of FSHD.

Published
2013
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