Publications

Peer-reviewed journal articles authored by members of the Duguez lab


54: McCluskey G, Duddy W, Haffey S, Morrison K, Donaghy C, Duguez S. Epidemiology and Survival Trends of Motor Neurone Disease in Northern Ireland from 2015-2019. Eur J Neurol. 2021 Nov 8. doi: 10.1111/ene.15172. Epub ahead of print. PMID: 34748676.


53: Mariot V, Joubert R, Le Gall L, Sidlauskaite E, Hourde C, Duddy W, Voit T, Bencze M, Dumonceaux J. RIPK3-mediated cell death is involved in DUX4-mediated toxicity in facioscapulohumeral dystrophy. J Cachexia Sarcopenia Muscle. 2021 Oct 22. doi: 10.1002/jcsm.12813. Epub ahead of print. PMID: 34687171.


52: Lim WF, Forouhan M, Roberts TC, Dabney J, Ellerington R, Speciale AA, Manzano R, Lieto M, Sangha G, Banerjee S, Conceição M, Cravo L, Biscans A, Roux L, Pourshafie N, Grunseich C, Duguez S, Khvorova A, Pennuto M, Cortes CJ, La Spada AR, Fischbeck KH, Wood MJA, Rinaldi C. Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity. Sci Adv. 2021 Aug 20;7(34):eabi6896. doi: 10.1126/sciadv.abi6896. PMID: 34417184; PMCID: PMC8378820.


51: Zogopoulos VL, Saxami G, Malatras A, Angelopoulou A, Jen CH, Duddy WJ, Daras G, Hatzopoulos P, Westhead DR, Michalopoulos I. Arabidopsis Coexpression Tool: a tool for gene coexpression analysis in Arabidopsis thaliana. iScience. 2021 Jul 10;24(8):102848. doi: 10.1016/j.isci.2021.102848. PMID: 34381973; PMCID: PMC8334378.


50: Morgan S, Malatras A, Duguez S, Duddy W. Optimized Molecular Interaction Networks for the Study of Skeletal Muscle. J Neuromuscul Dis. 2021 Jul 19. doi: 10.3233/JND-210680. Epub ahead of print. PMID: 34308911.


49: Chiba S, Lim KRQ, Sheri N, Anwar S, Erkut E, Shah MNA, Aslesh T, Woo S, Sheikh O, Maruyama R, Takano H, Kunitake K, Duddy W, Okuno Y, Aoki Y, Yokota T. eSkip-Finder: a machine learning-based web application and database to identify the optimal sequences of antisense oligonucleotides for exon skipping. Nucleic Acids Res. 2021 Jul 2;49(W1):W193-W198. doi: 10.1093/nar/gkab442. PMID: 34104972; PMCID: PMC8265194.


48: Duddy WJ, Duguez S. Understanding Neuromuscular Health and Disease: Advances in Genetics, Omics, and Molecular Function. J Pers Med. 2021 May 20;11(5):438. doi: 10.3390/jpm11050438. PMID: 34065209; PMCID: PMC8161133.


47: Vasilopoulou C, Morris AP, Giannakopoulos G, Duguez S, Duddy W. What Can Machine Learning Approaches in Genomics Tell Us about the Molecular Basis of Amyotrophic Lateral Sclerosis? J Pers Med. 2020 Nov 26;10(4):247. doi: 10.3390/jpm10040247. PMID: 33256133.


46: Le Gall L, Anakor E, Connolly O, Vijayakumar UG, Duddy WJ, Duguez S. Molecular and Cellular Mechanisms Affected in ALS. J Pers Med. 2020 Aug 25;10(3):E101. doi: 10.3390/jpm10030101. PMID: 32854276.


45: Le Gall L, Ouandaogo ZG, Anakor E, Connolly O, Butler Browne G, Laine J, Duddy W, Duguez S. Optimized method for extraction of exosomes from human primary muscle cells. Skelet Muscle. 2020 Jul 8;10(1):20. doi: 10.1186/s13395-020-00238-1. PMID: 32641118; PMCID: PMC7341622.


44: Connolly O, Le Gall L, McCluskey G, Donaghy CG, Duddy WJ, Duguez S. A Systematic Review of Genotype-Phenotype Correlation across Cohorts Having Causal Mutations of Different Genes in ALS. J Pers Med. 2020 Jun 29;10(3):E58. doi: 10.3390/jpm10030058. PMID: 32610599.


43: Foley AR, Zou Y, Dunford JE, Rooney J, Chandra G, Xiong H, Straub V, Voit T, Romero N, Donkervoort S, Hu Y, Markello T, Horn A, Qebibo L, Dastgir J, Meilleur KG, Finkel RS, Fan Y, Mamchaoui K, Duguez S, Nelson I, Laporte J, Santi M, Malfatti E, Maisonobe T, Touraine P, Hirano M, Hughes I, Bushby K, Oppermann U, Böhm J, Jaiswal JK, Stojkovic T, Bönnemann CG. GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome. Ann Neurol. 2020 May 13. doi: 10.1002/ana.25772. Epub ahead of print. PMID: 32403198.


42: Malatras A, Michalopoulos I, Duguez S, Butler-Browne G, Spuler S, Duddy WJ. MyoMiner: explore gene co-expression in normal and pathological muscle. BMC Med Genomics. 2020 May 11;13(1):67. doi: 10.1186/s12920-020-0712-3. PMID: 2393257; PMCID: PMC7216615.


41: Echigoya Y, Lim KRQ, Melo D, Bao B, Trieu N, Mizobe Y, Maruyama R, Mamchaoui K, Tanihata J, Aoki Y, Takeda S, Mouly V, Duddy W, Yokota T. Exons 45-55 Skipping Using Mutation-Tailored Cocktails of Antisense Morpholinos in the DMD Gene. Mol Ther. 2019 Nov 6;27(11):2005-2017. doi: 10.1016/j.ymthe.2019.07.012. Epub 2019 Jul 26. PMID: 31416775; PMCID: PMC6838919.


40: Vijayakumar UG, Milla V, Cynthia Stafford MY, Bjourson AJ, Duddy W, Duguez SM. A Systematic Review of Suggested Molecular Strata, Biomarkers and Their Tissue Sources in ALS. Front Neurol. 2019 May 14;10:400. doi: 10.3389/fneur.2019.00400. PMID: 31139131; PMCID: PMC6527847.


39: Malatras A, Duguez S, Duddy W. Muscle Gene Sets: a versatile methodological aid to functional genomics in the neuromuscular field. Skelet Muscle. 2019 May 3;9(1):10. doi: 10.1186/s13395-019-0196-z. PMID: 31053169; PMCID: PMC6498474.


38: Baude J, Bastien S, Gillet Y, Leblanc P, Itzek A, Tristan A, Bes M, Duguez S, Moreau K, Diep BA, Norrby-Teglund A, Henry T, Vandenesch F; INFECT Study Group. Necrotizing Soft Tissue Infection Staphylococcus aureus but not S. pyogenes Isolates Display High Rates of Internalization and Cytotoxicity Toward Human Myoblasts. J Infect Dis. 2019 Jul 19;220(4):710-719. doi: 10.1093/infdis/jiz167. PMID: 31001627.


37: Morgan S, Duguez S, Duddy W. Personalized Medicine and Molecular Interaction Networks in Amyotrophic Lateral Sclerosis (ALS): Current Knowledge. J Pers Med. 2018 Dec 13;8(4):44. doi: 10.3390/jpm8040044. PMID: 30551677; PMCID: PMC6313785.


36: Lee JJA, Maruyama R, Duddy W, Sakurai H, Yokota T. Identification of Novel Antisense-Mediated Exon Skipping Targets in DYSF for Therapeutic Treatment of Dysferlinopathy. Mol Ther Nucleic Acids. 2018 Dec 7;13:596-604. doi: 10.1016/j.omtn.2018.10.004. Epub 2018 Oct 11. PMID: 30439648; PMCID: PMC6234522.


35: Lee JJA, Saito T, Duddy W, Takeda S, Yokota T. Direct Reprogramming of Human DMD Fibroblasts into Myotubes for In Vitro Evaluation of Antisense-Mediated Exon Skipping and Exons 45-55 Skipping Accompanied by Rescue of Dystrophin Expression. Methods Mol Biol. 2018;1828:141-150. doi: 10.1007/978-1-4939-8651-4_8. PMID: 30171539; PMCID: PMC6578579.


34: Lee J, Echigoya Y, Duddy W, Saito T, Aoki Y, Takeda S, Yokota T. Antisense PMO cocktails effectively skip dystrophin exons 45-55 in myotubes transdifferentiated from DMD patient fibroblasts. PLoS One. 2018 May 17;13(5):e0197084. doi: 10.1371/journal.pone.0197084. PMID: 29771942; PMCID: PMC5957359.


33: Echigoya Y, Lim KRQ, Trieu N, Bao B, Miskew Nichols B, Vila MC, Novak JS, Hara Y, Lee J, Touznik A, Mamchaoui K, Aoki Y, Takeda S, Nagaraju K, Mouly V, Maruyama R, Duddy W, Yokota T. Quantitative Antisense Screening and Optimization for Exon 51 Skipping in Duchenne Muscular Dystrophy. Mol Ther. 2017 Nov 1;25(11):2561-2572. doi: 10.1016/j.ymthe.2017.07.014. Epub 2017 Jul 28. PMID: 28865998; PMCID: PMC5675502.


32: Lattanzi A, Duguez S, Moiani A, Izmiryan A, Barbon E, Martin S, Mamchaoui K, Mouly V, Bernardi F, Mavilio F, Bovolenta M. Correction of the Exon 2 Duplication in DMD Myoblasts by a Single CRISPR/Cas9 System. Mol Ther Nucleic Acids. 2017 Jun 16;7:11-19. doi: 10.1016/j.omtn.2017.02.004. Epub 2017 Feb 10. PMID: 28624187; PMCID: PMC5363679.


31: Defour A, Medikayala S, Van der Meulen JH, Hogarth MW, Holdreith N, Malatras A, Duddy W, Boehler J, Nagaraju K, Jaiswal JK. Annexin A2 links poor myofiber repair with inflammation and adipogenic replacement of the injured muscle. Hum Mol Genet. 2017 Jun 1;26(11):1979-1991. doi: 10.1093/hmg/ddx065. PMID: 8334824; PMCID: PMC6075559.


30: Thorley M, Duguez S, Mazza EMC, Valsoni S, Bigot A, Mamchaoui K, Harmon B, Voit T, Mouly V, Duddy W. Skeletal muscle characteristics are preserved in hTERT/cdk4 human myogenic cell lines. Skelet Muscle. 2016 Dec 8;6(1):43. doi: 10.1186/s13395-016-0115-5. PMID: 27931240; PMCID: PMC5146814.


29: 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 S. Age-Associated Methylation Suppresses SPRY1, Leading to a Failure of Re-quiescence and Loss of the Reserve Stem Cell Pool in Elderly Muscle. Cell Rep. 2015 Nov 10;13(6):1172-1182. doi: 10.1016/j.celrep.2015.09.067. Epub 2015 Oct 29. PMID: 26526994.


28: Thorley M, Malatras A, Duddy W, Le Gall L, Mouly V, Butler Browne G, Duguez S. Changes in Communication between Muscle Stem Cells and their Environment with Aging. J Neuromuscul Dis. 2015 Sep 2;2(3):205-217. doi: 10.3233/JND-150097. PMID: 27858742; PMCID: PMC5240546.


27: 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. Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy. Ann Neurol. 2015 Sep;78(3):387-400. doi: 10.1002/ana.24446. Epub 2015 Jul 3. PMID: 26018399.


26: Duddy W, Duguez S, Johnston H, Cohen TV, Phadke A, Gordish-Dressman H, Nagaraju K, Gnocchi V, Low S, Partridge T. Muscular dystrophy in the mdx mouse is a severe myopathy compounded by hypotrophy, hypertrophy and hyperplasia. Skelet Muscle. 2015 May 1;5:16. doi: 10.1186/s13395-015-0041-y. PMID: 25987977; PMCID: PMC4434871.


25: Zhu L, Malatras A, Thorley M, Aghoghogbe I, Mer A, Duguez S, Butler-Browne G, Voit T, Duddy W. CellWhere: graphical display of interaction networks organized on subcellular localizations. Nucleic Acids Res. 2015 Jul 1;43(W1):W571-5. doi: 10.1093/nar/gkv354. Epub 2015 Apr 16. PMID: 25883154; PMCID: PMC4489307.


24: Echigoya Y, Mouly V, Garcia L, Yokota T, Duddy W. In silico screening based on predictive algorithms as a design tool for exon skipping oligonucleotides in Duchenne muscular dystrophy. PLoS One. 2015 Mar 27;10(3):e0120058. doi: 10.1371/journal.pone.0120058. PMID: 25816009; PMCID: PMC4376395.


23: Bricceno KV, Martinez T, Leikina E, Duguez S, Partridge TA, Chernomordik LV, Fischbeck KH, Sumner CJ, Burnett BG. Survival motor neuron protein deficiency impairs myotube formation by altering myogenic gene expression and focal adhesion dynamics. Hum Mol Genet. 2014 Sep 15;23(18):4745-57. doi: 10.1093/hmg/ddu189. Epub 2014 Apr 23. PMID: 24760765; PMCID: PMC4140458.


22: Vallese D, Negroni E, Duguez S, Ferry A, Trollet C, Aamiri A, Vosshenrich CA, Füchtbauer EM, Di Santo JP, Vitiello L, Butler-Browne G, Mouly V. The Rag2⁻Il2rb⁻Dmd⁻ mouse: a novel dystrophic and immunodeficient model to assess innovating therapeutic strategies for muscular dystrophies. Mol Ther. 2013 Oct;21(10):1950-7. doi: 10.1038/mt.2013.186. Epub 2013 Aug 23. PMID: 23975040; PMCID: PMC3808143.


21: Barberi L, Scicchitano BM, De Rossi M, Bigot A, Duguez S, Wielgosik A, Stewart C, McPhee J, Conte M, Narici M, Franceschi C, Mouly V, Butler-Browne G, Musarò A. Age-dependent alteration in muscle regeneration: the critical role of tissue niche. Biogerontology. 2013 Jun;14(3):273-92. doi: 10.1007/s10522-013-9429-4. Epub 2013 May 12. PMID: 23666344; PMCID: MC3719007.


20: Baraibar MA, Gueugneau M, Duguez S, Butler-Browne G, Bechet D, Friguet B. Expression and modification proteomics during skeletal muscle ageing. Biogerontology. 2013 Jun;14(3):339-52. doi: 10.1007/s10522-013-9426-7. Epub 2013 Apr 28. PMID: 23624703.


19: Duguez S, Duddy W, Johnston H, Lainé J, Le Bihan MC, Brown KJ, Bigot A, Hathout Y, Butler-Browne G, Partridge T. Dystrophin deficiency leads to disturbance of LAMP1-vesicle-associated protein secretion. Cell Mol Life Sci. 2013 Jun;70(12):2159-74. doi: 10.1007/s00018-012-1248-2. Epub 2013 Jan 24. PMID: 23344255.


18: Duguez S, Duddy WJ, Gnocchi V, Bowe J, Dadgar S, Partridge TA. Atmospheric oxygen tension slows myoblast proliferation via mitochondrial activation. PLoS One. 2012;7(8):e43853. doi: 10.1371/journal.pone.0043853. Epub 2012 Aug 24. PMID: 22937109; PMCID: PMC3427224.


17: Aoki Y, Yokota T, Nagata T, Nakamura A, Tanihata J, Saito T, Duguez SM, Nagaraju K, Hoffman EP, Partridge T, Takeda S. Bodywide skipping of exons 45-55 in dystrophic mdx52 mice by systemic antisense delivery. Proc Natl Acad Sci U S A. 2012 Aug 21;109(34):13763-8. doi: 10.1073/pnas.1204638109. Epub 2012 Aug 6. PMID: 22869723; PMCID: PMC3427064.


16: Parker MH, Loretz C, Tyler AE, Duddy WJ, Hall JK, Olwin BB, Bernstein ID, Storb R, Tapscott SJ. Activation of Notch signaling during ex vivo expansion maintains donor muscle cell engraftment. Stem Cells. 2012 Oct;30(10):2212-20. doi: 10.1002/stem.1181. PMID: 22865615; PMCID: PMC3448880.


15: Brown KJ, Formolo CA, Seol H, Marathi RL, Duguez S, An E, Pillai D, Nazarian J, Rood BR, Hathout Y. Advances in the proteomic investigation of the cell secretome. Expert Rev Proteomics. 2012 Jun;9(3):337-45. doi: 10.1586/epr.12.21. PMID: 22809211; PMCID: PMC3500636.


14: Baudy AR, Reeves EK, Damsker JM, Heier C, Garvin LM, Dillingham BC, McCall J, Rayavarapu S, Wang Z, Vandermeulen JH, Sali A, Jahnke V, Duguez S, DuBois D, Rose MC, Nagaraju K, Hoffman EP. Δ-9,11 modification of glucocorticoids dissociates nuclear factor-κB inhibitory efficacy from glucocorticoid response element-associated side effects. J Pharmacol Exp Ther. 2012 Oct;343(1):225-32. doi: 10.1124/jpet.112.194340. Epub 2012 Jun 28. PMID: 22743576; PMCID: PMC3464029.


13: Yokota T, Duddy W, Echigoya Y, Kolski H. Exon skipping for nonsense mutations in Duchenne muscular dystrophy: too many mutations, too few patients? Expert Opin Biol Ther. 2012 Sep;12(9):1141-52. doi: 10.1517/14712598.2012.693469. Epub 2012 Jun 1. PMID: 22650324.


12: Duddy WJ, Cohen T, Duguez S, Partridge TA. The isolated muscle fibre as a model of disuse atrophy: characterization using PhAct, a method to quantify f-actin. Exp Cell Res. 2011 Aug 15;317(14):1979-93. doi: 10.1016/j.yexcr.2011.05.013. Epub 2011 May 20. PMID: 21635888; PMCID: PMC3148270.


11: Laure L, Danièle N, Suel L, Marchand S, Aubert S, Bourg N, Roudaut C, Duguez S, Bartoli M, Richard I. A new pathway encompassing calpain 3 and its newly identified substrate cardiac ankyrin repeat protein is involved in the regulation of the nuclear factor-κB pathway in skeletal muscle. FEBS J. 2010 Oct;277(20):4322-37. doi: 10.1111/j.1742-4658.2010.07820.x. Epub 2010 Sep 22. PMID: 20860623.


10: Duguez S, Partridge T. Skeletal muscle sings a choral stem cell lullaby. Cell Stem Cell. 2009 Sep 4;5(3):231-2. doi: 10.1016/j.stem.2009.08.012. PMID: 19733529.


9: Yokota T, Pistilli E, Duddy W, Nagaraju K. Potential of oligonucleotide-mediated exon-skipping therapy for Duchenne muscular dystrophy. Expert Opin Biol Ther. 2007 Jun;7(6):831-42. doi: 10.1517/14712598.7.6.831. PMID: 17555369.


8: Berthon P, Duguez S, Favier FB, Amirouche A, Feasson L, Vico L, Denis C, Freyssenet D. Regulation of ubiquitin-proteasome system, caspase enzyme activities, and extracellular proteinases in rat soleus muscle in response to unloading. Pflugers Arch. 2007 Jul;454(4):625-33. doi: 10.1007/s00424-007-0230-6. Epub 2007 Mar 3. PMID: 17334780.


7: Duguez S, Bartoli M, Richard I. Calpain 3: a key regulator of the sarcomere? FEBS J. 2006 Aug;273(15):3427-36. doi: 10.1111/j.1742-4658.2006.05351.x. PMID: 16884488.


6: Milner-White EJ, Nissink JW, Allen FH, Duddy WJ. Recurring main-chain anion-binding motifs in short polypeptides: nests. Acta Crystallogr D Biol Crystallogr. 2004 Nov;60(Pt 11):1935-42. doi: 10.1107/S0907444904021390. Epub 2004 Oct 20. PMID: 15502299.


5: Duddy WJ, Nissink JW, Allen FH, Milner-White EJ. Mimicry by asx- and ST-turns of the four main types of beta-turn in proteins. Protein Sci. 2004 Nov;13(11):3051-5. doi: 10.1110/ps.04920904. Epub 2004 Sep 30. PMID: 15459339; PMCID: PMC2286581.


4: Duguez S, Sabido O, Freyssenet D. Mitochondrial-dependent regulation of myoblast proliferation. Exp Cell Res. 2004 Sep 10;299(1):27-35. doi: 10.1016/j.yexcr.2004.05.017. PMID: 15302570.


3: Duguez S, Bihan MC, Gouttefangeas D, Féasson L, Freyssenet D. Myogenic and nonmyogenic cells differentially express proteinases, Hsc/Hsp70, and BAG-1 during skeletal muscle regeneration. Am J Physiol Endocrinol Metab. 2003 Jul;285(1):E206-15. doi: 10.1152/ajpendo.00331.2002. PMID: 12791605.


2: Féasson L, Stockholm D, Freyssenet D, Richard I, Duguez S, Beckmann JS, Denis C. Molecular adaptations of neuromuscular disease-associated proteins in response to eccentric exercise in human skeletal muscle. J Physiol. 2002 Aug 15;543(Pt 1):297-306. doi: 10.1113/jphysiol.2002.018689. PMID: 12181300; PMCID: PMC2290467.


1: Duguez S, Féasson L, Denis C, Freyssenet D. Mitochondrial biogenesis during skeletal muscle regeneration. Am J Physiol Endocrinol Metab. 2002 Apr;282(4):E802-9. doi: 10.1152/ajpendo.00343.2001. PMID: 11882500.