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PGNM publications reflect the scientific output of the laboratory’s teams and collaborators, spanning fundamental mechanisms, disease models, technologies and translational research.

2024
Flück M, Sanchez C, Jacquemond V, Berthier C, Giraud MN, Jacko D, Bersiner K, Gehlert S, Baan G, Ja..., Enhanced capacity for CaMKII signaling mitigates calcium release related contractile fatigue with high intensity exercise., Biochim Biophys Acta Mol Cell Res 2024 Feb; 1871(2): 119610.
2024
Liénard C, Pintart A, Bomont P, Neuronal Autophagy: Regulations and Implications in Health and Disease., Cells 2024 Jan; 13(1): .
2024
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.
2023
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): .
2023
Idoux R, Exbrayat-Héritier C, Sohm F, Jaque-Fernandez F, Vaganay E, Berthier C, Bretaud S, Jacquemo..., A mechano- and heat-gated two-pore domain K+ channel controls excitability in adult zebrafish skeletal muscle., Proc Natl Acad Sci U S A 2023 Nov; 120(45): e2305959120.
2023
Lescouzères L, Hassen-Khodja C, Baudot A, Bordignon B, Bomont P, A multilevel screening pipeline in zebrafish identifies therapeutic drugs for GAN., EMBO Mol Med 2023 Jul; 15(7): e16267.
2023
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): .
2023
Jaque-Fernandez F, Allard B, Monteiro L, Lafoux A, Huchet C, Jaimovich E, Berthier C, Jacquemond V, Probenecid affects muscle Ca2+ homeostasis and contraction independently from pannexin channel block., J Gen Physiol 2023 Apr; 155(4): .
2023
Cikes D, Elsayad K, Sezgin E, Koitai E, Torma F, Orthofer M, Yarwood R, Heinz LX, Sedlyarov V, Miran..., PCYT2-regulated lipid biosynthesis is critical to muscle health and ageing., Nat Metab 2023 Mar; 5(3): 495-515.
2023
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.
2023
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.
2023
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.
2023
Szentesi P, Dienes B, Kutchukian C, Czirjak T, Buj-Bello A, Jacquemond V, Csernoch L, Disrupted T-tubular network accounts for asynchronous calcium release in MTM1-deficient skeletal muscle., J Physiol 2023 Jan; 601(1): 99-121.
2022
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.
2022
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.
2022
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.
2022
Idoux R, Bretaud S, Berthier C, Ruggiero F, Jacquemond V, Allard B, Superfast excitation-contraction coupling in adult zebrafish skeletal muscle fibers., J Gen Physiol 2022 Sep; 154(9): .
2022
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.
2022
Silva-Rojas R, Nattarayan V, Jaque-Fernandez F, Gomez-Oca R, Menuet A, Reiss D, Goret M, Messaddeq N..., Mice with muscle-specific deletion of Bin1 recapitulate centronuclear myopathy and acute downregulation of dynamin 2 improves their phenotypes., Mol Ther 2022 Feb; 30(2): 868-880.
2022
Cicciarello D, Schaeffer L, Scionti I, Epigenetic Control of Muscle Stem Cells: Focus on Histone Lysine Demethylases., Front Cell Dev Biol 2022 ; 10(): 917771.