
Members

Laurent Schaeffer
Professor

Liudmila Afanaseva
PHD STUDENT

Edwige Belotti
Post-doc

Julien Carras
Student

Upasana Chatterjee
AI CNRS

Zélia Chauvaud
Doctorant

Delia Cicciarello
Post-doc

Thomas Chetot
MCU

Agnes Conjard-duplany
researcher

Laurent Coudert
Post-doc

Yann-gaël Gangloff
researcher

Emmanuelle Girard
Research Assistant

Shiyang He
PHD STUDENT

Nicolas Hugo
Research Assistant

Arnaud Jacquier
Post-doc

Nicolas Lacoste
Research Assistant

Pascal Leblanc
researcher

Laetitia Mazelin
researcher

Sandrine Mouradian
Research Assistant

Peter Mulligan
researcher

Alexis Osseni
Post-doc

Alexandre Pintart
PHD STUDENT

Shams Ribault
PHD STUDENT

Valérie Risson
Research Assistant

Isabella Scionti
researcher

Thomas Simonet
MCU-PH

Julian Theuriet
PHD STUDENT

Emilien Bernard
PH HCL

Françoise Bouhours
PH HCL

Philippe Latour
PH HCL

Rita Menassa
PH HCL

Laurence Michel
PH HCL

Antoine Pegat
PH HCL

Nathalie Streichenberger
MCU-PH

Juliette Svahn
PH HCL

Carole Vuillerot
MCU PH HCL
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.

Publications
2025
[Human organoids and their clinical promise in the neuromuscular field].,
Med Sci (Paris) 2025 Nov; 41 Hors série n° 2(): 14-18.
2025
Muscle mTOR controls iron homeostasis and ferritinophagy via NRF2, HIFs and AKT/PKB signaling pathways.,
Cell Mol Life Sci 2025 Apr; 82(1): 178.
2025
Muscle fibroblasts and stem cells stimulate motor neurons in an age and exercise-dependent manner.,
Aging Cell 2025 Mar; 24(3): e14413.
2025
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.
2025
Delivery of Prime editing in human stem cells using pseudoviral NanoScribes particles.,
Nat Commun 2025 Jan; 16(1): 397.
2025
Targeting histone deacetylase 6 (HDAC6) in Duchenne muscular dystrophy: New insights into therapeutic potential.,
Acta Physiol (Oxf) 2025 Jan; 241(1): e14256.
2024
Mitochondrial disorders are associated with morphological neuromuscular junction defects.,
Neuromuscul Disord 2024 Dec; 45(): 105235.
2024
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.
2024
The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis.,
Brain 2024 May; 147(5): 1768-1783.
2024
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.
2024
H2A.Z is involved in premature aging and DSB repair initiation in muscle fibers.,
Nucleic Acids Res 2024 Apr; 52(6): 3031-3049.
2024
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.
2023
Spatial Transcriptomics Reveals Signatures of Histopathological Changes in Muscular Sarcoidosis.,
Cells 2023 Nov; 12(23): .
2023
Nucleolar reorganization after cellular stress is orchestrated by SMN shuttling between nuclear compartments.,
Nat Commun 2023 Nov; 14(1): 7384.
2023
H syndrome mimicking Erdheim Chester disease: new entity and therapeutic perspectives.,
Haematologica 2023 Aug; 108(8): 2255-2260.
2023
Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy.,
Brain 2023 Aug; 146(8): 3470-3483.
2023
Interplay between PML NBs and HIRA for H3.3 dynamics following type I interferon stimulus.,
Elife 2023 May; 12(): .
2023
Reply: Biallelic variants in the COQ7 gene cause distal hereditary motor neuropathy in two Chinese families.,
Brain 2023 May; 146(5): e31-e32.
2023
Hydroxypropyl-β-Cyclodextrin Depletes Membrane Cholesterol and Inhibits SARS-CoV-2 Entry into HEK293T-ACEhi Cells.,
Pathogens 2023 Apr; 12(5): .
2023
MBNL-dependent impaired development within the neuromuscular system in myotonic dystrophy type 1.,
Neuropathol Appl Neurobiol 2023 Feb; 49(1): e12876.
2023
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.
2023
Immune-Mediated Rippling Muscle Disease Associated With Thymoma and Anti-MURC/Cavin-4 Autoantibodies.,
Neurol Neuroimmunol Neuroinflamm 2023 Jan; 10(1): .
2023
Repurposing pentamidine using hyaluronic acid-based nanocarriers for skeletal muscle treatment in myotonic dystrophy.,
Nanomedicine 2023 Jan; 47(): 102623.
2022
[HDAC6, a very specific deacetylase with a potential therapeutic role].,
Med Sci (Paris) 2022 Dec; 38 Hors série n° 1(): 6-12.
2022
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.
2022
Novel Intronic Mutation in VMA21 Causing Severe Phenotype of X-Linked Myopathy with Excessive Autophagy-Case Report.,
Genes (Basel) 2022 Nov; 13(12): .
2022
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.
2022
Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons.,
Acta Neuropathol 2022 Oct; 144(4): 707-731.
2022
Simple Methods for Permanent or Transient Denervation in Mouse Sciatic Nerve Injury Models.,
Bio Protoc 2022 Jun; 12(11): .
2022
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.
2022
Microrchidia CW-Type Zinc Finger 2, a Chromatin Modifier in a Spectrum of Peripheral Neuropathies.,
Front Cell Neurosci 2022 ; 16(): 896854.
2022
Epigenetic Control of Muscle Stem Cells: Focus on Histone Lysine Demethylases.,
Front Cell Dev Biol 2022 ; 10(): 917771.
2021
Drosophila Nesprin-1 Isoforms Differentially Contribute to Muscle Function.,
Cells 2021 Nov; 10(11): .
2021
MACF1 controls skeletal muscle function through the microtubule-dependent localization of extra-synaptic myonuclei and mitochondria biogenesis.,
Elife 2021 Aug; 10(): .
2020
Regulation of Gene expression at the neuromuscular Junction.,
Neurosci Lett 2020 Sep; 735(): 135163.
2020
HDAC6 regulates microtubule stability and clustering of AChRs at neuromuscular junctions.,
J Cell Biol 2020 Aug; 219(8): .
2020
H2A.Z is dispensable for both basal and activated transcription in post-mitotic mouse muscles.,
Nucleic Acids Res 2020 May; 48(9): 4601-4613.
2020
Mitochondrial function in skeletal myofibers is controlled by a TRF2-SIRT3 axis over lifetime.,
Aging Cell 2020 Mar; 19(3): e13097.
2019
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.
2019
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.
2019
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.
2019
Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons.,
J Vis Exp 2019 Jan; (143): .
2019
Genome editing in primary cells and in vivo using viral-derived Nanoblades loaded with Cas9-sgRNA ribonucleoproteins.,
Nat Commun 2019 Jan; 10(1): 45.
2018
LPS-induced histone H3 phospho(Ser10)-acetylation(Lys14) regulates neuronal and microglial neuroinflammatory response.,
Brain Behav Immun 2018 Nov; 74(): 277-290.
2018
Increased Serpina3n release into circulation during glucocorticoid-mediated muscle atrophy.,
J Cachexia Sarcopenia Muscle 2018 Oct; 9(5): 929-946.
2018
Correction to: Cellular mechanisms responsible for cell-to-cell spreading of prions.,
Cell Mol Life Sci 2018 Jul; 75(14): 2575.
2018
Cellular mechanisms responsible for cell-to-cell spreading of prions.,
Cell Mol Life Sci 2018 Jul; 75(14): 2557-2574.
2018
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.
2017
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.
2017
LSD1 Controls Timely MyoD Expression via MyoD Core Enhancer Transcription.,
Cell Rep 2017 Feb; 18(8): 1996-2006.
2017
Isolation of Exosomes and Microvesicles from Cell Culture Systems to Study Prion Transmission.,
Methods Mol Biol 2017 ; 1545(): 153-176.
2016
[NeuroMyoGene Institute: a Franco-Canadian partnership promoting research in neuromuscular disorders].,
Med Sci (Paris) 2016 Nov; 32 Hors série n°2(): 55-56.
2016
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.
2016
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.
2016
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.
2016
Time-lapse scanning surface plasmon microscopy of living adherent cells with a radially polarized beam.,
Appl Opt 2016 Feb; 55(6): 1216-27.
2015
PAK1 and CtBP1 Regulate the Coupling of Neuronal Activity to Muscle Chromatin and Gene Expression.,
Mol Cell Biol 2015 Dec; 35(24): 4110-20.
2015
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.
2015
Efficient inhibition of infectious prions multiplication and release by targeting the exosomal pathway.,
Cell Mol Life Sci 2015 Nov; 72(22): 4409-27.
2015
MuSK frizzled-like domain is critical for mammalian neuromuscular junction formation and maintenance.,
J Neurosci 2015 Mar; 35(12): 4926-41.
2015
Histone deacetylase 6 is a FoxO transcription factor-dependent effector in skeletal muscle atrophy.,
J Biol Chem 2015 Feb; 290(7): 4215-24.
2014
Myostatin gene inactivation prevents skeletal muscle wasting in cancer.,
Cancer Res 2014 Dec; 74(24): 7344-56.
2014
Drosophila Nesprin-1 controls glutamate receptor density at neuromuscular junctions.,
Cell Mol Life Sci 2014 Sep; 71(17): 3363-79.
2014
Anti-agrin autoantibodies in myasthenia gravis.,
Neurology 2014 Jun; 82(22): 1976-83.
2014
Phosphorylation of NBR1 by GSK3 modulates protein aggregation.,
Autophagy 2014 Jun; 10(6): 1036-53.
2014
Diffraction phase microscopy: retrieving phase contours on living cells with a wavelet-based space-scale analysis.,
J Biomed Opt 2014 Mar; 19(3): 36007.
2013
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.
2013
A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia.,
PLoS One 2013 ; 8(1): e53826.
2012
CKIP-1 regulates mammalian and zebrafish myoblast fusion.,
J Cell Sci 2012 Aug; 125(Pt 16): 3790-800.
2012
Functional mechanisms of the cellular prion protein (PrP(C)) associated anti-HIV-1 properties.,
Cell Mol Life Sci 2012 Apr; 69(8): 1331-52.
2012
Wnt4 participates in the formation of vertebrate neuromuscular junction.,
PLoS One 2012 ; 7(1): e29976.
2011
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.
2010
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.
2010
DHPR alpha1S subunit controls skeletal muscle mass and morphogenesis.,
EMBO J 2010 Feb; 29(3): 643-54.
2009
Muscle inactivation of mTOR causes metabolic and dystrophin defects leading to severe myopathy.,
J Cell Biol 2009 Dec; 187(6): 859-74.
2009
Identification of an agrin mutation that causes congenital myasthenia and affects synapse function.,
Am J Hum Genet 2009 Aug; 85(2): 155-67.
2009
Silencing rapsyn in vivo decreases acetylcholine receptors and augments sodium channels and secondary postsynaptic membrane folding.,
Neurobiol Dis 2009 Jul; 35(1): 14-23.
2009
Muscle mitochondrial uncoupling dismantles neuromuscular junction and triggers distal degeneration of motor neurons.,
PLoS One 2009 ; 4(4): e5390.
2007
Postsynaptic chromatin is under neural control at the neuromuscular junction.,
EMBO J 2007 Feb; 26(4): 1117-28.
2006
NOV/CCN3 impairs muscle cell commitment and differentiation.,
Exp Cell Res 2006 Jun; 312(10): 1876-89.
2005
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.
2005
Histone deacetylase 9 couples neuronal activity to muscle chromatin acetylation and gene expression.,
Nat Neurosci 2005 Mar; 8(3): 313-21.
2005
[Pathophysiological characterization of congenital myasthenic syndromes: the example of mutations in the MUSK gene].,
J Soc Biol 2005 ; 199(1): 61-77.
2004
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.
2004
MUSK, a new target for mutations causing congenital myasthenic syndrome.,
Hum Mol Genet 2004 Dec; 13(24): 3229-40.
2004
Thrombin reduces MuSK and acetylcholine receptor expression along with neuromuscular contact size in vitro.,
Eur J Neurosci 2004 Apr; 19(8): 2099-108.
2004
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.
2004
Conditional gene knock-down by CRE-dependent short interfering RNAs.,
EMBO Rep 2004 Feb; 5(2): 178-82.
2003
Synapse-specific gene expression at the neuromuscular junction.,
Ann N Y Acad Sci 2003 Sep; 998(): 53-65.
2003
Localization of the RNA-binding proteins Staufen1 and Staufen2 at the mammalian neuromuscular junction.,
J Neurochem 2003 Aug; 86(3): 669-77.
2003
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.
2003
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.
2002
Expression of mutant Ets protein at the neuromuscular synapse causes alterations in morphology and gene expression.,
EMBO Rep 2002 Nov; 3(11): 1075-81.
