Nerve-muscle interactions – PGNM

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Theme

Fundamental and pathophysiological mechanisms implicated in ataxia

About

The team develops a series of research topics dedicated to the maintenance of skeletal muscle homeostasis. Some discoveries and techniques developed by the team have direct implications for the diagnostic or the treatment of neuromuscular disorders. The team hosts clinicians that are involved in research projects aimed at developing innovative biomarkers and understanding the pathophysiology of neuromuscular disorders.

Members

Laurent Schaeffer

Liudmila Afanaseva

Upasana Chatterjee

Zélia Chauvaud

Delia Cicciarello

Agnes Conjard-duplany

Laurent Coudert

Yann-gaël Gangloff

Emmanuelle Girard

Research Assistant

Research Assistant

Arnaud Jacquier

Nicolas Lacoste

Research Assistant

Laetitia Mazelin

Sandrine Mouradian

Research Assistant

Alexandre Pintart

Valérie Risson

Research Assistant

Isabella Scionti

Julian Theuriet

Emilien Bernard

Françoise Bouhours

Philippe Latour

Laurence Michel

Nathalie Streichenberger

Carole Vuillerot

Projects

Epigenetic regulation of muscle stem cell fate

Skeletal muscle has the unique ability to regenerate upon injury. This capacity relies on the presence of muscle stem cells […]

Isabella Scionti

Histone variants

Muscle fibers are multinucleated, post-mitotic and long-lived cells, whose homeostasis is crucial for muscle function. While epigenetic changes and genomic […]

TGFβ signaling

Muscle atrophy is a debilitating and life-threatening syndrome associated with chronic diseases such as cancer, myopathy, chronic obstructive pulmonary and […]

Laetitia Mazelin

The dysregulation of mTOR signaling (mechanistic Target of Rapamycin) in skeletal muscle is a shared feature among several myopathies, therapeutic […]

Yann-gaël Gangloff

Our work has shown that by catalyzing tubulin and Smad3 deacetylation, HDAC6 respectively regulates acetylcholine receptor distribution and TGF signaling […]

Protein misfolding disorders

Misfolding disorders are characterized by the aggregation of specific cellular proteins with prion-like properties in the central nervous system or […]

Motoneuron and NMJ genetic diseases

From genes to pathophysiology to treatment: motoneuron and NMJ pathologies involve more than 100 genes and many remain to be […]

Arnaud Jacquier

Publications

Coudert L, Risson V, Schaeffer L, Jacquier A, [Human organoids and their clinical promise in the neuromuscular field]., Med Sci (Paris) 2025 Nov; 41 Hors série n° 2(): 14-18.

Agnès Conjard-Duplany, Alexis Osseni, Aline Lamboux, Sandrine Mouradian, Flavien Picard, Vincent Mo..., Muscle mTOR controls iron homeostasis and ferritinophagy via NRF2, HIFs and AKT/PKB signaling pathways, Cell Mol Life Sci 2025 Apr; 82(1): 178.

Soendenbroe C, Schjerling P, Bechshøft CJL, Svensson RB, Schaeffer L, Kjaer M, Chazaud B, Jacquier ..., Muscle fibroblasts and stem cells stimulate motor neurons in an age and exercise-dependent manner., Aging Cell 2025 Mar; 24(3): e14413.

Picard F, Nonaka T, Belotti E, Osseni A, Errazuriz-Cerda E, Jost-Mousseau C, Bernard E, Conjard-Dupl..., Enhanced secretion of the amyotrophic lateral sclerosis ALS-associated misfolded TDP-43 mediated by the ER-ubiquitin specific peptidase USP19., Cell Mol Life Sci 2025 Feb; 82(1): 76.

Halegua T, Risson V, Carras J, Rouyer M, Coudert L, Jacquier A, Schaeffer L, Ohlmann T, Mangeot PE, Delivery of Prime editing in human stem cells using pseudoviral NanoScribes particles., Nat Commun 2025 Jan; 16(1): 397.

Osseni A, Schaeffer L, Targeting histone deacetylase 6 (HDAC6) in Duchenne muscular dystrophy: New insights into therapeutic potential., Acta Physiol (Oxf) 2025 Jan; 241(1): e14256.

Lessard LER, Girard E, Streichenberger N, Petiot P, Acquaviva C, Pagan C, Mulligan P, Bouhour F, Sch..., Mitochondrial disorders are associated with morphological neuromuscular junction defects., Neuromuscul Disord 2024 Dec; 45(): 105235.

Fer M, Amalric C, Arban R, Baron L, Ben Hamida S, Breh-Schlanser P, Cui Y, Darcq E, Eickmeier C, Fay..., Discovery of BI-9508, a Brain-Penetrant GPR88-Receptor-Agonist Tool Compound for In Vivo Mouse Studies., J Med Chem 2024 Jul; 67(13): 11296-11325.

Zibold J, Lessard LER, Picard F, da Silva LG, Zadorozhna Y, Streichenberger N, Belotti E, Osseni A, ..., The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis., Brain 2024 May; 147(5): 1768-1783.

Mouradian S, Cicciarello D, Lacoste N, Risson V, Berretta F, Le Grand F, Rose N, Simonet T, Schaeffe..., LSD1 controls a nuclear checkpoint in Wnt/β-Catenin signaling to regulate muscle stem cell self-renewal., Nucleic Acids Res 2024 Apr; 52(7): 3667-3681.

Belotti E, Lacoste N, Iftikhar A, Simonet T, Papin C, Osseni A, Streichenberger N, Mari PO, Girard E..., H2A.Z is involved in premature aging and DSB repair initiation in muscle fibers., Nucleic Acids Res 2024 Apr; 52(6): 3031-3049.

Theuriet J, Fernandez-Eulate G, Latour P, Stojkovic T, Masingue M, Vidoni L, Bernard E, Jacquier A, ..., Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing., Eur J Hum Genet 2024 Jan; 32(1): 37-43.

Lequain H, Dégletagne C, Streichenberger N, Valantin J, Simonet T, Schaeffer L, Sève P, Leblanc P, Spatial Transcriptomics Reveals Signatures of Histopathological Changes in Muscular Sarcoidosis., Cells 2023 Nov; 12(23): .

Musawi S, Donnio LM, Zhao Z, Magnani C, Rassinoux P, Binda O, Huang J, Jacquier A, Coudert L, Lomont..., Nucleolar reorganization after cellular stress is orchestrated by SMN shuttling between nuclear compartments., Nat Commun 2023 Nov; 14(1): 7384.

Lequain H, Gerfaud-Valentin M, Emile JF, Gangloff YG, Boursier G, Deligny C, Le Guenno G, Tantot J, ..., H syndrome mimicking Erdheim Chester disease: new entity and therapeutic perspectives., Haematologica 2023 Aug; 108(8): 2255-2260.

Constance Kleijwegt, Florent Bressac, Coline Seurre, Wilhelm Bouchereau, Camille Cohen, Pascale Texi..., Interplay between PML NBs and HIRA for H3.3 dynamics following type I interferon stimulus, Elife 2023 May; 12(): .

Jacquier A, Theuriet J, Ribault S, Lacoste N, Pegat A, Latour P, Schaeffer L, Reply: Biallelic variants in the COQ7 gene cause distal hereditary motor neuropathy in two Chinese families., Brain 2023 May; 146(5): e31-e32.

Alboni S, Secco V, Papotti B, Vilella A, Adorni MP, Zimetti F, Schaeffer L, Tascedda F, Zoli M, Lebl..., Hydroxypropyl-β-Cyclodextrin Depletes Membrane Cholesterol and Inhibits SARS-CoV-2 Entry into HEK293T-ACEhi Cells., Pathogens 2023 Apr; 12(5): .

Tahraoui-Bories J, Mérien A, González-Barriga A, Lainé J, Leteur C, Polvèche H, Carteron A, De L..., MBNL-dependent impaired development within the neuromuscular system in myotonic dystrophy type 1., Neuropathol Appl Neurobiol 2023 Feb; 49(1): e12876.

Siouda M, Dujardin AD, Dekeyzer B, Schaeffer L, Mulligan P, Chromodomain on Y-like 2 (CDYL2) implicated in mitosis and genome stability regulation via interaction with CHAMP1 and POGZ., Cell Mol Life Sci 2023 Jan; 80(2): 47.

Svahn J, Coudert L, Streichenberger N, Kraut A, Gravier-Dumonceau-Mazelier A, Rotard L, Calemard-Mic..., Immune-Mediated Rippling Muscle Disease Associated With Thymoma and Anti-MURC/Cavin-4 Autoantibodies., Neurol Neuroimmunol Neuroinflamm 2023 Jan; 10(1): .

Repellin M, Carton F, Boschi F, Galiè M, Perduca M, Calderan L, Jacquier A, Carras J, Schaeffer L, ..., Repurposing pentamidine using hyaluronic acid-based nanocarriers for skeletal muscle treatment in myotonic dystrophy., Nanomedicine 2023 Jan; 47(): 102623.

Osseni A, Schaeffer L, [HDAC6, a very specific deacetylase with a potential therapeutic role]., Med Sci (Paris) 2022 Dec; 38 Hors série n° 1(): 6-12.

Jacquier A, Ribault S, Mendes M, Lacoste N, Risson V, Carras J, Latour P, Nadaj-Pakleza A, Stojkovic..., Expanding the phenotypic variability of MORC2 gene mutations: From Charcot-Marie-Tooth disease to late-onset pure motor neuropathy., Hum Mutat 2022 Dec; 43(12): 1898-1908.

Pegat A, Streichenberger N, Lacoste N, Hermier M, Menassa R, Coudert L, Theuriet J, Froissart R, Ter..., Novel Intronic Mutation in VMA21 Causing Severe Phenotype of X-Linked Myopathy with Excessive Autophagy-Case Report., Genes (Basel) 2022 Nov; 13(12): .

Osseni A, Ravel-Chapuis A, Belotti E, Scionti I, Gangloff YG, Moncollin V, Mazelin L, Mounier R, Leb..., Pharmacological inhibition of HDAC6 improves muscle phenotypes in dystrophin-deficient mice by downregulating TGF-β via Smad3 acetylation., Nat Commun 2022 Nov; 13(1): 7108.

Jacquier A, Risson V, Simonet T, Roussange F, Lacoste N, Ribault S, Carras J, Theuriet J, Girard E, ..., Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons., Acta Neuropathol 2022 Oct; 144(4): 707-731.

Arnaud Jacquier, Simon Roubille, Patrick Lomonte, Laurent Schaeffer, Microrchidia CW-Type Zinc Finger 2, a Chromatin Modifier in a Spectrum of Peripheral Neuropathies, Front Cell Neurosci 2022 ; 16(): 896854.

Martin A, Castells J, Allibert V, Emerit A, Zolotoff C, Cardot-Ruffino V, Gallot YS, Vernus B, Chauv..., Hypothalamic-pituitary-adrenal axis activation and glucocorticoid-responsive gene expression in skeletal muscle and liver of Apc mice., J Cachexia Sarcopenia Muscle 2022 Jun; 13(3): 1686-1703.

Arnaud Jacquier, Julian Theuriet, Fanny Fontaine, Valentine Mosbach, Nicolas Lacoste, Shams Ribault,..., Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy, Brain 2023 Aug; 146(8): 3470-3483.

Cicciarello D, Schaeffer L, Scionti I, Epigenetic Control of Muscle Stem Cells: Focus on Histone Lysine Demethylases., Front Cell Dev Biol 2022 ; 10(): 917771.

Alexis Osseni, Jean-Luc Thomas, Alireza Ghasemizadeh, Laurent Schaeffer, Jean- Thomas, Vincent Gache, Simple Methods for Permanent or Transient Denervation in Mouse Sciatic Nerve Injury Models, Bio Protoc 2022 Jun; 12(11): .

Rey A, Schaeffer L, Durand B, Morel V, Drosophila Nesprin-1 Isoforms Differentially Contribute to Muscle Function., Cells 2021 Nov; 10(11): .

Ghasemizadeh A, Christin E, Guiraud A, Couturier N, Abitbol M, Risson V, Girard E, Jagla C, Soler C,..., MACF1 controls skeletal muscle function through the microtubule-dependent localization of extra-synaptic myonuclei and mitochondria biogenesis., Elife 2021 Aug; 10(): .

Belotti E, Schaeffer L, Regulation of Gene expression at the neuromuscular Junction., Neurosci Lett 2020 Sep; 735(): 135163.

Alexis Osseni, Aymeric Ravel-Chapuis, Jean-Luc Thomas, Vincent Gache, Laurent Schaeffer, Bernard Jas..., HDAC6 regulates microtubule stability and clustering of AChRs at neuromuscular junctions, J Cell Biol 2020 Aug; 219(8): .

Belotti E, Lacoste N, Simonet T, Papin C, Padmanabhan K, Scionti I, Gangloff YG, Ramos L, Dalkara D,..., H2A.Z is dispensable for both basal and activated transcription in post-mitotic mouse muscles., Nucleic Acids Res 2020 May; 48(9): 4601-4613.

Robin JD, Jacome Burbano MS, Peng H, Croce O, Thomas JL, Laberthonniere C, Renault V, Lototska L, Po..., Mitochondrial function in skeletal myofibers is controlled by a TRF2-SIRT3 axis over lifetime., Aging Cell 2020 Mar; 19(3): e13097.

Coudert L, Nonaka T, Bernard E, Hasegawa M, Schaeffer L, Leblanc P, Phosphorylated and aggregated TDP-43 with seeding properties are induced upon mutant Huntingtin (mHtt) polyglutamine expression in human cellular models., Cell Mol Life Sci 2019 Jul; 76(13): 2615-2632.

Harvey AJ, Avery TD, Schaeffer L, Joseph C, Huff BC, Singh R, Morice C, Giethlen B, Grishin AA, Cole..., Discovery of BNC375, a Potent, Selective, and Orally Available Type I Positive Allosteric Modulator of α7 nAChRs., ACS Med Chem Lett 2019 May; 10(5): 754-760.

Zhang Q, Duplany A, Moncollin V, Mouradian S, Goillot E, Mazelin L, Gauthier K, Streichenberger N, A..., Lack of muscle mTOR kinase activity causes early onset myopathy and compromises whole-body homeostasis., J Cachexia Sarcopenia Muscle 2019 Feb; 10(1): 35-53.

Jacquier A, Risson V, Schaeffer L, Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons., J Vis Exp 2019 Jan; (143): .

Mangeot PE, Risson V, Fusil F, Marnef A, Laurent E, Blin J, Mournetas V, Massouridès E, Sohier TJM,..., Genome editing in primary cells and in vivo using viral-derived Nanoblades loaded with Cas9-sgRNA ribonucleoproteins., Nat Commun 2019 Jan; 10(1): 45.

Rigillo G, Vilella A, Benatti C, Schaeffer L, Brunello N, Blom JMC, Zoli M, Tascedda F, LPS-induced histone H3 phospho(Ser10)-acetylation(Lys14) regulates neuronal and microglial neuroinflammatory response., Brain Behav Immun 2018 Nov; 74(): 277-290.

Gueugneau M, d'Hose D, Barbé C, de Barsy M, Lause P, Maiter D, Bindels LB, Delzenne NM, Schaeffer L..., Increased Serpina3n release into circulation during glucocorticoid-mediated muscle atrophy., J Cachexia Sarcopenia Muscle 2018 Oct; 9(5): 929-946.

Vilette D, Courte J, Peyrin JM, Coudert L, Schaeffer L, Andréoletti O, Leblanc P, Correction to: Cellular mechanisms responsible for cell-to-cell spreading of prions., Cell Mol Life Sci 2018 Jul; 75(14): 2575.

Vilette D, Courte J, Peyrin JM, Coudert L, Schaeffer L, Andréoletti O, Leblanc P, Cellular mechanisms responsible for cell-to-cell spreading of prions., Cell Mol Life Sci 2018 Jul; 75(14): 2557-2574.

Streppa L, Ratti F, Goillot E, Devin A, Schaeffer L, Arneodo A, Argoul F, Prestressed cells are prone to cytoskeleton failures under localized shear strain: an experimental demonstration on muscle precursor cells., Sci Rep 2018 Jun; 8(1): 8602.

Jacquier A, Delorme C, Belotti E, Juntas-Morales R, Solé G, Dubourg O, Giroux M, Maurage CA, Castel..., Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death., Acta Neuropathol Commun 2017 Jul; 5(1): 55.

Scionti I, Hayashi S, Mouradian S, Girard E, Esteves de Lima J, Morel V, Simonet T, Wurmser M, Maire..., LSD1 Controls Timely MyoD Expression via MyoD Core Enhancer Transcription., Cell Rep 2017 Feb; 18(8): 1996-2006.

Leblanc P, Arellano-Anaya ZE, Bernard E, Gallay L, Provansal M, Lehmann S, Schaeffer L, Raposo G, Vi..., Isolation of Exosomes and Microvesicles from Cell Culture Systems to Study Prion Transmission., Methods Mol Biol 2017 ; 1545(): 153-176.

Schaeffer L, [NeuroMyoGene Institute: a Franco-Canadian partnership promoting research in neuromuscular disorders]., Med Sci (Paris) 2016 Nov; 32 Hors série n°2(): 55-56.

Maroui MA, Callé A, Cohen C, Streichenberger N, Texier P, Takissian J, Rousseau A, Poccardi N, Wels..., Latency Entry of Herpes Simplex Virus 1 Is Determined by the Interaction of Its Genome with the Nuclear Environment., PLoS Pathog 2016 Sep; 12(9): e1005834.

Mazelin L, Panthu B, Nicot AS, Belotti E, Tintignac L, Teixeira G, Zhang Q, Risson V, Baas D, Delaun..., mTOR inactivation in myocardium from infant mice rapidly leads to dilated cardiomyopathy due to translation defects and p53/JNK-mediated apoptosis., J Mol Cell Cardiol 2016 Aug; 97(): 213-25.

Vernay A, Therreau L, Blot B, Risson V, Dirrig-Grosch S, Waegaert R, Lequeu T, Sellal F, Schaeffer L..., A transgenic mouse expressing CHMP2Bintron5 mutant in neurons develops histological and behavioural features of amyotrophic lateral sclerosis and frontotemporal dementia., Hum Mol Genet 2016 Aug; 25(15): 3341-3360.

Berguiga L, Streppa L, Boyer-Provera E, Martinez-Torres C, Schaeffer L, Elezgaray J, Arneodo A, Argo..., Time-lapse scanning surface plasmon microscopy of living adherent cells with a radially polarized beam., Appl Opt 2016 Feb; 55(6): 1216-27.

Thomas JL, Moncollin V, Ravel-Chapuis A, Valente C, Corda D, Méjat A, Schaeffer L, PAK1 and CtBP1 Regulate the Coupling of Neuronal Activity to Muscle Chromatin and Gene Expression., Mol Cell Biol 2015 Dec; 35(24): 4110-20.

Dimassi S, Simonet T, Labalme A, Boutry-Kryza N, Campan-Fournier A, Lamy R, Bardel C, Elsensohn MH, ..., Comparison of two next-generation sequencing kits for diagnosis of epileptic disorders with a user-friendly tool for displaying gene coverage, DeCovA., Appl Transl Genom 2015 Dec; 7(): 19-25.

Vilette D, Laulagnier K, Huor A, Alais S, Simoes S, Maryse R, Provansal M, Lehmann S, Andreoletti O,..., Efficient inhibition of infectious prions multiplication and release by targeting the exosomal pathway., Cell Mol Life Sci 2015 Nov; 72(22): 4409-27.

Messéant J, Dobbertin A, Girard E, Delers P, Manuel M, Mangione F, Schmitt A, Le Denmat D, Molgó J..., MuSK frizzled-like domain is critical for mammalian neuromuscular junction formation and maintenance., J Neurosci 2015 Mar; 35(12): 4926-41.

Ratti F, Ramond F, Moncollin V, Simonet T, Milan G, Méjat A, Thomas JL, Streichenberger N, Gilquin ..., Histone deacetylase 6 is a FoxO transcription factor-dependent effector in skeletal muscle atrophy., J Biol Chem 2015 Feb; 290(7): 4215-24.

Gallot YS, Durieux AC, Castells J, Desgeorges MM, Vernus B, Plantureux L, Rémond D, Jahnke VE, Lefa..., Myostatin gene inactivation prevents skeletal muscle wasting in cancer., Cancer Res 2014 Dec; 74(24): 7344-56.

Morel V, Lepicard S, Rey AN, Parmentier ML, Schaeffer L, Drosophila Nesprin-1 controls glutamate receptor density at neuromuscular junctions., Cell Mol Life Sci 2014 Sep; 71(17): 3363-79.

Gasperi C, Melms A, Schoser B, Zhang Y, Meltoranta J, Risson V, Schaeffer L, Schalke B, Kröger S, Anti-agrin autoantibodies in myasthenia gravis., Neurology 2014 Jun; 82(22): 1976-83.

Nicot AS, Lo Verso F, Ratti F, Pilot-Storck F, Streichenberger N, Sandri M, Schaeffer L, Goillot E, Phosphorylation of NBR1 by GSK3 modulates protein aggregation., Autophagy 2014 Jun; 10(6): 1036-53.

Martinez-Torres C, Berguiga L, Streppa L, Boyer-Provera E, Schaeffer L, Elezgaray J, Arneodo A, Argo..., Diffraction phase microscopy: retrieving phase contours on living cells with a wavelet-based space-scale analysis., J Biomed Opt 2014 Mar; 19(3): 36007.

Bruneteau G, Simonet T, Bauché S, Mandjee N, Malfatti E, Girard E, Tanguy ML, Behin A, Khiami F, Sa..., Muscle histone deacetylase 4 upregulation in amyotrophic lateral sclerosis: potential role in reinnervation ability and disease progression., Brain 2013 Aug; 136(Pt 8): 2359-68.

Ben Ammar A, Soltanzadeh P, Bauché S, Richard P, Goillot E, Herbst R, Gaudon K, Huzé C, Schaeffer ..., A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia., PLoS One 2013 ; 8(1): e53826.

Baas D, Caussanel-Boude S, Guiraud A, Calhabeu F, Delaune E, Pilot F, Chopin E, Machuca-Gayet I, Ver..., CKIP-1 regulates mammalian and zebrafish myoblast fusion., J Cell Sci 2012 Aug; 125(Pt 16): 3790-800.

Alais S, Soto-Rifo R, Balter V, Gruffat H, Manet E, Schaeffer L, Darlix JL, Cimarelli A, Raposo G, O..., Functional mechanisms of the cellular prion protein (PrP(C)) associated anti-HIV-1 properties., Cell Mol Life Sci 2012 Apr; 69(8): 1331-52.

Strochlic L, Falk J, Goillot E, Sigoillot S, Bourgeois F, Delers P, Rouvière J, Swain A, Castellani..., Wnt4 participates in the formation of vertebrate neuromuscular junction., PLoS One 2012 ; 7(1): e29976.

Romanino K, Mazelin L, Albert V, Conjard-Duplany A, Lin S, Bentzinger CF, Handschin C, Puigserver P,..., Myopathy caused by mammalian target of rapamycin complex 1 (mTORC1) inactivation is not reversed by restoring mitochondrial function., Proc Natl Acad Sci U S A 2011 Dec; 108(51): 20808-13.

Pilot-Storck F, Chopin E, Rual JF, Baudot A, Dobrokhotov P, Robinson-Rechavi M, Brun C, Cusick ME, H..., Interactome mapping of the phosphatidylinositol 3-kinase-mammalian target of rapamycin pathway identifies deformed epidermal autoregulatory factor-1 as a new glycogen synthase kinase-3 interactor., Mol Cell Proteomics 2010 Jul; 9(7): 1578-93.

Piétri-Rouxel F, Gentil C, Vassilopoulos S, Baas D, Mouisel E, Ferry A, Vignaud A, Hourdé C, Marty..., DHPR alpha1S subunit controls skeletal muscle mass and morphogenesis., EMBO J 2010 Feb; 29(3): 643-54.

Risson V, Mazelin L, Roceri M, Sanchez H, Moncollin V, Corneloup C, Richard-Bulteau H, Vignaud A, Ba..., Muscle inactivation of mTOR causes metabolic and dystrophin defects leading to severe myopathy., J Cell Biol 2009 Dec; 187(6): 859-74.

Huzé C, Bauché S, Richard P, Chevessier F, Goillot E, Gaudon K, Ben Ammar A, Chaboud A, Grosjean I..., Identification of an agrin mutation that causes congenital myasthenia and affects synapse function., Am J Hum Genet 2009 Aug; 85(2): 155-67.

Martínez-Martínez P, Phernambucq M, Steinbusch L, Schaeffer L, Berrih-Aknin S, Duimel H, Frederik ..., Silencing rapsyn in vivo decreases acetylcholine receptors and augments sodium channels and secondary postsynaptic membrane folding., Neurobiol Dis 2009 Jul; 35(1): 14-23.

Dupuis L, Gonzalez de Aguilar JL, Echaniz-Laguna A, Eschbach J, Rene F, Oudart H, Halter B, Huze C, ..., Muscle mitochondrial uncoupling dismantles neuromuscular junction and triggers distal degeneration of motor neurons., PLoS One 2009 ; 4(4): e5390.

Ravel-Chapuis A, Vandromme M, Thomas JL, Schaeffer L, Postsynaptic chromatin is under neural control at the neuromuscular junction., EMBO J 2007 Feb; 26(4): 1117-28.

Calhabeu F, Lafont J, Le Dreau G, Laurent M, Kazazian C, Schaeffer L, Martinerie C, Dubois C, NOV/CCN3 impairs muscle cell commitment and differentiation., Exp Cell Res 2006 Jun; 312(10): 1876-89.

Angus LM, Chakkalakal JV, Méjat A, Eibl JK, Bélanger G, Megeney LA, Chin ER, Schaeffer L, Michel R..., Calcineurin-NFAT signaling, together with GABP and peroxisome PGC-1{alpha}, drives utrophin gene expression at the neuromuscular junction., Am J Physiol Cell Physiol 2005 Oct; 289(4): C908-17.

Méjat A, Ramond F, Bassel-Duby R, Khochbin S, Olson EN, Schaeffer L, Histone deacetylase 9 couples neuronal activity to muscle chromatin acetylation and gene expression., Nat Neurosci 2005 Mar; 8(3): 313-21.

Chevessier F, Faraut B, Ravel-Chapuis A, Richard P, Gaudon K, Bauché S, Prioleau C, Herbst R, Goill..., [Pathophysiological characterization of congenital myasthenic syndromes: the example of mutations in the MUSK gene]., J Soc Biol 2005 ; 199(1): 61-77.

Strochlic L, Cartaud A, Mejat A, Grailhe R, Schaeffer L, Changeux JP, Cartaud J, 14-3-3 gamma associates with muscle specific kinase and regulates synaptic gene transcription at vertebrate neuromuscular synapse., Proc Natl Acad Sci U S A 2004 Dec; 101(52): 18189-94.

Chevessier F, Faraut B, Ravel-Chapuis A, Richard P, Gaudon K, Bauché S, Prioleau C, Herbst R, Goill..., MUSK, a new target for mutations causing congenital myasthenic syndrome., Hum Mol Genet 2004 Dec; 13(24): 3229-40.

Faraut B, Ravel-Chapuis A, Bonavaud S, Jandrot-Perrus M, Verdière-Sahuqué M, Schaeffer L, Koenig J..., Thrombin reduces MuSK and acetylcholine receptor expression along with neuromuscular contact size in vitro., Eur J Neurosci 2004 Apr; 19(8): 2099-108.

Safi A, Vandromme M, Caussanel S, Valdacci L, Baas D, Vidal M, Brun G, Schaeffer L, Goillot E, Role for the pleckstrin homology domain-containing protein CKIP-1 in phosphatidylinositol 3-kinase-regulated muscle differentiation., Mol Cell Biol 2004 Feb; 24(3): 1245-55.

Fritsch L, Martinez LA, Sekhri R, Naguibneva I, Gérard M, Vandromme M, Schaeffer L, Harel-Bellan A, Conditional gene knock-down by CRE-dependent short interfering RNAs., EMBO Rep 2004 Feb; 5(2): 178-82.

Méjat A, Ravel-Chapuis A, Vandromme M, Schaeffer L, Synapse-specific gene expression at the neuromuscular junction., Ann N Y Acad Sci 2003 Sep; 998(): 53-65.

Bélanger G, Stocksley MA, Vandromme M, Schaeffer L, Furic L, DesGroseillers L, Jasmin BJ, Localization of the RNA-binding proteins Staufen1 and Staufen2 at the mammalian neuromuscular junction., J Neurochem 2003 Aug; 86(3): 669-77.

Faraut B, Barbier J, Ravel-Chapuis A, Doyennette MA, Jandrot-Perrus M, Verdière-Sahuqué M, Schaeff..., Thrombin downregulates muscle acetylcholine receptors via an IP3 signaling pathway by activating its G-protein-coupled protease-activated receptor-1., J Cell Physiol 2003 Jul; 196(1): 105-12.

Seebach D, Schaeffer L, Brenner M, Hoyer D, Design and synthesis of gamma-dipeptide derivatives with submicromolar affinities for human somatostatin receptors., Angew Chem Int Ed Engl 2003 Feb; 42(7): 776-8.

de Kerchove D'Exaerde A, Cartaud J, Ravel-Chapuis A, Seroz T, Pasteau F, Angus LM, Jasmin BJ, Change..., Expression of mutant Ets protein at the neuromuscular synapse causes alterations in morphology and gene expression., EMBO Rep 2002 Nov; 3(11): 1075-81.