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Meeting report: The 2022 FSHD International Research Congress.

Doris G Leung, June Kinoshita, Jamshid Arjomand, Julie Dumonceaux; 2022 FSHD IRC Program committee and co-chairs

Neuromuscul Disord. 2022. DOI: 10.1016/j.nmd.2022.12.005

Gene Editing to Tackle Facioscapulohumeral Muscular Dystrophy.

Virginie Mariot, Julie Dumonceaux

Front Genome Ed. 2022 Jul 15;4:937879. doi: 10.3389/fgeed.2022.937879

The Neurotoxicity of Vesicles Secreted by ALS Patient Myotubes Is Specific to Exosome-Like and Not Larger Subtypes

Ekene Anakor, Vanessa Milla, Owen Connolly, Cecile Martinat, Pierre Francois Pradat, Julie Dumonceaux, William Duddy, Stephanie Duguez

Cells. 2022 Mar 1;11(5):845. doi: 10.3390/cells11050845.

Transiently expressed CRISPR/Cas9 induces wild-type dystrophin in vitro in DMD patient myoblasts carrying duplications

Veronica Pini, Virginie Mariot, Julie Dumonceaux, John Counsell, Helen C O'Neill, Sarah Farmer, Francesco Conti, Francesco Muntoni

Sci Rep. 2022 Mar 8;12(1):3756. doi: 10.1038/s41598-022-07671-w.

Muscle cells of sporadic amyotrophic lateral sclerosis patients secrete neurotoxic vesicles

Le Gall L, Duddy WJ, Martinat C, Mariot V, Connolly O, Milla V, Anakor E, Ouandaogo ZG, Millecamps S, Lainé J, Vijayakumar UG, Knoblach S, Raoul C, Lucas O, Loeffler JP, Bede P, Behin A, Blasco H, Bruneteau G, Del Mar Amador M, Devos D, Henriques A, Hesters A, Lacomblez L, Laforet P, Langlet T, Leblanc P, Le Forestier N, Maisonobe T, Meininger V, Robelin L, Salachas F, Stojkovic T, Querin G, Dumonceaux J, Butler Browne G, González De Aguilar JL, Duguez S, Pradat PF

J Cachexia Sarcopenia Muscle. 2022 Feb 22. doi: 10.1002/jcsm.12945.

Exosomes in Ageing and Motor Neurone Disease: Biogenesis, Uptake Mechanisms, Modifications in Disease and Uses in the Development of Biomarkers and Therapeutics

Ekene Anakor, Laura Le Gall, Julie Dumonceaux, William John Duddy, Stephanie Duguez

Cells. 2021 Oct 28;10(11):2930. doi: 10.3390/cells10112930.

RIPK3-mediated cell death is involved in DUX4-mediated toxicity in facioscapulohumeral dystrophy

Virginie Mariot, Romain Joubert, Laura Le Gall, Eva Sidlauskaite, Christophe Hourde, William Duddy, Thomas Voit, Maximilien Bencze, Julie Dumonceaux

J Cachexia Sarcopenia Muscle. 2021 Dec;12(6):2079-2090. doi: 10.1002/jcsm.12813.

A Deoxyribonucleic Acid Decoy Trapping DUX4 for the Treatment of Facioscapulohumeral Muscular Dystrophy.

Virginie Mariot, Romain Joubert, Anne-Charlotte Marsollier, Christophe Hourdé, Thomas Voit, Julie Dumonceaux

Mol Ther Nucleic Acids. 2020 Oct 22;22:1191-1199. doi: 10.1016/j.omtn.2020.10.028.

Gene Editing Targeting the DUX4 Polyadenylation Signal: A Therapy for FSHD?

Romain Joubert, Virginie Mariot, Marine Charpentier, Jean Paul Concordet, Julie Dumonceaux

J Pers Med. 2020 Dec 23;11(1):7. doi: 10.3390/jpm11010007.

Meeting report: the 2020 FSHD International Research Congress.

Michael Kyba, Robert J Bloch, Julie Dumonceaux, Scott Q Harper, Silvère M van der Maarel, Francis M Sverdrup, Kathryn R Wagner, Baziel van Engelen, Yi-Wen Chen

Skelet Muscle. 2020 Dec 8;10(1):36. doi: 10.1186/s13395-020-00253-2.

A Deoxyribonucleic Acid Decoy Trapping DUX4 for the Treatment of Facioscapulohumeral Muscular Dystrophy

Mariot V, Joubert R, Marsollier A, Hourdé C, Voit T, Dumonceaux J

Mol Ther Nucleic Acids. 2020 Oct 22;22:1191-1199. doi: 10.1016/j.omtn.2020.10.028.

Therapeutic Strategies Targeting DUX4 in FSHD.

Le Gall L, Sidlauskaite E, Mariot V, Dumonceaux J.

J Clin Med. 2020 Sep 7;9(9):2886. doi: 10.3390/jcm9092886.

DUX4 Expression in FSHD Muscles: Focus on Its mRNA Regulation.

Sidlauskaite E, Le Gall L, Mariot V, Dumonceaux J.

J Pers Med. 2020 Jul 28;10(3):E73. doi: 10.3390/jpm10030073.

Chitosan-Shelled Nanobubbles Irreversibly Encapsulate Morpholino Conjugate Antisense Oligonucleotides and Are Ineffective for Phosphorodiamidate Morpholino-Mediated Gene Silencing of DUX4.

Falzarano MS, Argenziano M, Marsollier AC, Mariot V, Rossi D, Selvatici R, Dumonceaux J, Cavalli R, Ferlini A.

Nucleic Acid Ther. 2020 Jul 13. doi: 10.1089/nat.2020.0862.

Myostatin Is a Quantifiable Biomarker for Monitoring Pharmaco-gene Therapy in Duchenne Muscular Dystrophy

Mariot V, Le Guiner C, Barthélémy I, Montus M, Blot S, Torelli S, Morgan J, Muntoni F, Voit T, Dumonceaux J.

Mol Ther Methods Clin Dev. 2020 Jun 24;18:415-421. doi: 10.1016/j.omtm.2020.06.016.

One-hour universal protocol for mouse genotyping.

Joubert R, Mariot V, Dumonceaux J.

Muscle Nerve. 2020 Feb 21. doi: 10.1002/mus.26841.

Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy.

Zhou H, Meng J, Malerba A, Catapano F, Sintusek P, Jarmin S, Feng L, Lu-Nguyen N, Sun L, Mariot V, Dumonceaux J, Morgan JE, Gissen P, Dickson G, Muntoni F.

J Cachexia Sarcopenia Muscle. 2020 Feb 7. doi: 10.1002/jcsm.12542.

SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite.

Dion C, Roche S, Laberthonnière C, Broucqsault N, Mariot V, Xue S, Gurzau AD, Nowak A, Gordon CT, Gaillard MC, El-Yazidi C, Thomas M, Schlupp-Robaglia A, Missirian C, Malan V, Ratbi L, Sefiani A, Wollnik B, Binetruy B, Salort Campana E, Attarian S, Bernard R, Nguyen K, Amiel J, Dumonceaux J, Murphy JM, Déjardin J, Blewitt ME, Reversade B, Robin JD, Magdinier F.

Nucleic Acids Res. 2019 Apr 8;47(6):2822-2839. doi: 10.1093/nar/gkz005.

Publisher Correction: Necroptosis mediates myofibre death in dystrophin-deficient mice.

Morgan JE, Prola A, Mariot V, Pini V, Meng J, Hourde C, Dumonceaux J, Conti F, Relaix F, Authier FJ, Tiret L, Muntoni F, Bencze M.

Nat Commun. 2018 Oct 2;9(1):4107. doi: 10.1038/s41467-018-06636-w.

Necroptosis mediates myofibre death in dystrophin-deficient mice.

Morgan JE, Prola A, Mariot V, Pini V, Meng J, Hourde C, Dumonceaux J, Conti F, Relaix F, Authier FJ, Tiret L, Muntoni F, Bencze M.

Nat Commun. 2018 Sep 7;9(1):3655. doi: 10.1038/s41467-018-06057-9. Erratum in: Nat Commun. 2018 Oct 2;9(1):4107.

Targeting the Polyadenylation Signal of Pre-mRNA: A New Gene Silencing Approach for Facioscapulohumeral Dystrophy.

Marsollier AC, Joubert R, Mariot V, Dumonceaux J.

Int J Mol Sci. 2018 May 3;19(5). pii: E1347. doi: 10.3390/ijms19051347. Review.

Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches.

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

Nat Commun. 2017 Nov 30;8(1):1859. doi: 10.1038/s41467-017-01486-4.

Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report.

Gaillard MC, Puppo F, Roche S, Dion C, Campana ES, Mariot V, Chaix C, Vovan C, Mazaleyrat K, Tasmadjian A, Bernard R, Dumonceaux J, Attarian S, Lévy N, Nguyen K, Magdinier F, Bartoli M.

BMC Med Genet. 2016 Sep 15;17(1):66. doi: 10.1186/s12881-016-0328-9.

Genetic Evidence That Captured Retroviral Envelope syncytins Contribute to Myoblast Fusion and Muscle Sexual Dimorphism in Mice.

Redelsperger F, Raddi N, Bacquin A, Vernochet C, Mariot V, Gache V, Blanchard-Gutton N, Charrin S, Tiret L, Dumonceaux J, Dupressoir A, Heidmann T.

PLoS Genet. 2016 Sep 2;12(9):e1006289. doi: 10.1371/journal.pgen.1006289. eCollection 2016 Sep.

Antisense targeting of 3' end elements involved in DUX4 mRNA processing is an efficient therapeutic strategy for facioscapulohumeral dystrophy: a new gene-silencing approach.

Marsollier AC, Ciszewski L, Mariot V, Popplewell L, Voit T, Dickson G, Dumonceaux J.

Hum Mol Genet. 2016 Apr 15;25(8):1468-78. doi: 10.1093/hmg/ddw015. Epub 2016 Jan 19.

Age-Associated Methylation Suppresses SPRY1, Leading to a Failure of Re-quiescence and Loss of the Reserve Stem Cell Pool in Elderly Muscle.

Bigot A, Duddy WJ, Ouandaogo ZG, Negroni E, Mariot V, Ghimbovschi S, Harmon B, Wielgosik A, Loiseau C, Devaney J,Dumonceaux J, Butler-Browne G, Mouly V, Duguez V.

Cell Rep. 2015 Nov 10;13(6):1172-1182. doi: 10.1016/j.celrep.2015.09.067. Epub 2015 Oct 29.

Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy.

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

Ann Neurol. 2015 Sep;78(3):387-400. doi: 10.1002/ana.24446.

miRNA expression in control and FSHD fetal human muscle biopsies.

Portilho DM, Alves MR, Kratassiouk G, Roche S, Magdinier F, de Santana EC, Polesskaya A, Harel-Bellan A, Mouly V, Savino W, Butler-Browne G, Dumonceaux J.

PLoS One. 2015 Feb 18;10(2):e0116853. doi: 10.1371/journal.pone.0116853.

Nuclear protein spreading: implication for pathophysiology of neuromuscular diseases.

Ferreboeuf M, Mariot V, Furling D, Butler-Browne G, Mouly V, Dumonceaux J.

Hum Mol Genet. 2014 Aug 1;23(15):4125-33. doi: 10.1093/hmg/ddu129.

DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles.

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

Hum Mol Genet. 2014 Jan 1;23(1):171-81. doi: 10.1093/hmg/ddt409.

Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy.

Broucqsault N, Morere J, Gaillard MC, Dumonceaux J, Torrents J, Salort-Campana E, Maues De Paula A, Bartoli M, Fernandez C, Chesnais AL, Ferreboeuf M, Sarda L, Dufour H, Desnuelle C, Attarian S, Levy N, Nguyen K, Magdinier F, Roche S.

Hum Mol Genet. 2013 Oct 15;22(20):4206-14. doi: 10.1093/hmg/ddt272.

Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy.

Caruso N, Herberth B, Bartoli M, Puppo F, Dumonceaux J, Zimmermann A, Denadai S, Lebossé M, Roche S, Geng L, Magdinier F, Attarian S, Bernard R, Maina F, Levy N, Helmbacher F.

PLoS Genet. 2013 Jun;9(6):e1003550. doi: 10.1371/journal.pgen.1003550.

Viral-mediated expression of desmin mutants to create mouse models of myofibrillar myopathy.

Joanne P, Chourbagi O, Hourdé C, Ferry A, Butler-Browne G, Vicart P, Dumonceaux J, Agbulut O.

Skelet Muscle. 2013 Feb 20;3(1):4. doi: 10.1186/2044-5040-3-4.

Generation of isogenic D4Z4 contracted and noncontracted immortal muscle cell clones from a mosaic patient: a cellular model for FSHD.

Krom YD, Dumonceaux J, Mamchaoui K, den Hamer B, Mariot V, Negroni E, Geng LN, Martin N, Tawil R, Tapscott SJ, van Engelen BG, Mouly V, Butler-Browne GS, van der Maarel SM.

Am J Pathol. 2012 Oct;181(4):1387-401. doi: 10.1016/j.ajpath.2012.07.007.

Combination of myostatin pathway interference and dystrophin rescue enhances tetanic and specific force in dystrophic mdx mice.

Dumonceaux J, Marie S, Beley C, Trollet C, Vignaud A, Ferry A, Butler-Browne G, Garcia L.

Mol Ther. 2010 May;18(5):881-7. doi: 10.1038/mt.2009.322.

Current advances in the development of therapies for neuromuscular disorders based on myostatin signalling, 3rd International Institute of Myology Workshop, Paris, September 12th, 2008.

Dumonceaux J, Amthor H.

Neuromuscul Disord. 2009 Nov;19(11):797-9. doi: 10.1016/j.nmd.2009.08.001.

Muscle hypertrophy driven by myostatin blockade does not require stem/precursor-cell activity.

Amthor H, Otto A, Vulin A, Rochat A, Dumonceaux J, Garcia L, Mouisel E, Hourdé C, Macharia R, Friedrichs M, Relaix F, Zammit PS, Matsakas A, Patel K, Partridge T.

Proc Natl Acad Sci U S A. 2009 May 5;106(18):7479-84. doi: 10.1073/pnas.0811129106.

Expression of unmodified hepatitis C virus envelope glycoprotein-coding sequences leads to cryptic intron excision and cell surface expression of E1/E2 heterodimers comprising full-length and partially deleted E1.

Dumonceaux J, Cormier EG, Kajumo F, Donovan GP, Roy-Chowdhury J, Fox IJ, Gardner JP, Dragic T.

J Virol. 2003 Dec;77(24):13418-24.

Human adipose cells express CD4, CXCR4, and CCR5 [corrected] receptors: a new target cell type for the immunodeficiency virus-1?

Hazan U, Romero IA, Cancello R, Valente S, Perrin V, Mariot V, Dumonceaux J, Gerhardt CC, Strosberg AD, Couraud PO, Pietri-Rouxel F.

FASEB J. 2002 Aug;16(10):1254-6.

A human immunodeficiency virus Env inducible transcription system to examine consequences of gp120 expression.

Joliot V, Goujon C, Dumonceaux J, Renard A, Briand P, Hazan U.

J Virol Methods. 2001 Nov;98(2):145-51.

Determination of essential amino acids involved in the CD4-independent tropism of the X4 human immunodeficiency virus type 1 m7NDK isolate: role of potential N glycosylations in the C2 and V3 regions of gp120.

Dumonceaux J, Goujon C, Joliot V, Briand P, Hazan U.

J Virol. 2001 Jun;75(11):5425-8.

CXCR4 is down-regulated in cells infected with the CD4-independent X4 human immunodeficiency virus type 1 isolate m7NDK.

Valente ST, Chanel C, Dumonceaux J, Olivier R, Marullo S, Briand P, Hazan U.

J Virol. 2001 Jan;75(1):439-47.

Mutations in the env gene of human immunodeficiency virus type 1 NDK isolates and the use of African green monkey CXCR4 as a co-receptor in COS-7 cells.

Dumonceaux J, Chanel C, Valente S, Quivet L, Briand P, Hazan U.

J Gen Virol. 1999 Aug;80 ( Pt 8):1975-1982. doi: 10.1099/0022-1317-80-8-1975.

Spontaneous mutations in the env gene of the human immunodeficiency virus type 1 NDK isolate are associated with a CD4-independent entry phenotype.

Dumonceaux J, Nisole S, Chanel C, Quivet L, Amara A, Baleux F, Briand P, Hazan U.

1998 Jan;72(1):512-9.