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Propagation of Distinct α-Synuclein Strains Within Human Reconstructed Neuronal Network and Associated Neuronal Dysfunctions

Simona Gribaudo , Luc Bousset , Josquin Courte , Ronald Melki , Jean-Michel Peyrin et al.
Protein Aggregation, 2551 (10), Springer US, pp.357-378, 2023, Methods in Molecular Biology, ⟨10.1007/978-1-0716-2597-2_24⟩
Book sections hal-03836488v1

Toxic CUG RNA repeats disrupt developmentally-regulated splicing in oligodendrocytes causing transient hypomyelination in a mouse model of myotonic dystrophy.

Louison Lallemant , Sandra Braz , Anchel González-Barriga , Paul Magneron , Aurélien Cordier et al.
The European Meeting on Glial Cells in Health and Disease, Jul 2023, Berlin, France
Conference poster hal-04005524v1
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Ex vivo gene therapy for β-hemoglobinpathies and metabolic disorders

Marine Laurent
Biotechnology. Université Paris-Saclay, 2023. English. ⟨NNT : 2023UPASL006⟩
Theses tel-04021549v1

MBNL‐dependent impaired development within the neuromuscular system in myotonic dystrophy type 1

Julie Tahraoui-Bories , Antoine Mérien , Anchel González-Barriga , Jeanne Lainé , Céline Leteur et al.
Neuropathology and Applied Neurobiology, 2023, 49 (1), ⟨10.1111/nan.12876⟩
Journal articles hal-03992575v1
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Photoreceptor Cell Replacement Using Pluripotent Stem Cells: Current Knowledge and Remaining Questions

Christelle Monville , Olivier Goureau , Karim Ben M'Barek
Cold Spring Harbor Perspectives in Medicine, 2022
Journal articles hal-03932669v1

Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice

Clément Pontoizeau , Marcelo Simon-Sola , Clovis Gaborit , Vincent Nguyen , Irina Rotaru et al.
Nature Communications, 2022, 13 (1), pp.3278. ⟨10.1038/s41467-022-30880-w⟩
Journal articles hal-03862521v1

Myotonic dystrophy RNA toxicity alters morphology, adhesion and migration of mouse and human astrocytes

Diana Dincã , Anchel González-Barriga , Geraldine Sicot , Louison Lallemant , Laure-Elise Pillet et al.
2022
Preprints, Working Papers, ... hal-03863376v1
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Base-editing-mediated dissection of a γ-globin cis-regulatory element for the therapeutic reactivation of fetal hemoglobin expression

Panagiotis Antoniou , Giulia Hardouin , Pierre Martinucci , Giacomo Frati , Tristan Felix et al.
Nature Communications, 2022, 13 (1), pp.6618. ⟨10.1038/s41467-022-34493-1⟩
Journal articles mnhn-03868573v1
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Dlk1-Dio3 cluster miRNAs regulate mitochondrial functions in Duchenne muscular dystrophy

Ai Vu Hong , Nathalie Bourg , Peggy Sanatine , Jerome Poupiot , Karine Charton et al.
Life Science Alliance, 2022, ⟨10.26508/lsa.202201506⟩
Journal articles hal-03454735v1

Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons

Arnaud Jacquier , Valérie Risson , Thomas Simonet , Florine Roussange , Nicolas Lacoste et al.
Acta Neuropathologica, 2022, 144 (4), pp.707-731. ⟨10.1007/s00401-022-02475-8⟩
Journal articles hal-03863096v1
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Immune Responses to Gene Editing by Viral and Non-Viral Delivery Vectors Used in Retinal Gene Therapy

Duohao Ren , Sylvain Fisson , Deniz Dalkara , Divya Ail
Pharmaceutics, 2022, 14 (9), pp.1973. ⟨10.3390/pharmaceutics14091973⟩
Journal articles inserm-03806869v1

MBNL dependent-impaired development connectivity within neuromuscular circuits in Myotonic Dystrophy type.

Julie Tahraoui-Bories , Antoine Mérien , Jeanne Lainé , Florine Roussange , Anchel González-Barriga et al.
Myology 2022, Sep 2022, Nice, France
Conference poster hal-04005593v1

Glial cell dysfunction in myotonic dystrophy brain disease

Dm Dinca , So Braz , Louison Lallemant , A Gonzalez-Barriga , B Potier et al.
12th Japanese-French Workshop: New insights in personalized medicine for neuromuscular diseases: From Basic to Applied Myology, Sep 2022, Giverny, France
Conference papers hal-04004421v1

RNA helicase-dependent gene looping impacts messenger RNA processing

Sophie Terrone , Jessica Valat , Nicolas Fontrodona , Guillaume Giraud , Jean-Baptiste Claude et al.
Nucleic Acids Research, 2022, 50 (16), pp.9226-9246. ⟨10.1093/nar/gkac717⟩
Journal articles hal-03842696v1
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Modélisation des atteintes neurologiques du syndrome de Wolfram de type 1 : exploitation des cellules souches pluripotentes induites et de leurs dérivés

Axel Sciauvaud
Physiologie [q-bio.TO]. Université Paris-Saclay, 2022. Français. ⟨NNT : 2022UPASQ034⟩
Theses tel-03917165v1
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Human Cytomegalovirus Modifies Placental Small Extracellular Vesicle Composition to Enhance Infection of Fetal Neural Cells In Vitro

Mathilde Bergamelli , Hélène Martin , Yann Aubert , Jean-Michel Mansuy , Marlène Marcellin et al.
Viruses, 2022, 14 (9), pp.2030. ⟨10.3390/v14092030⟩
Journal articles hal-03800516v1

Moxifloxacin rescues SMA phenotypes in patient-derived cells and animal model

Camille Januel , Giovanna Menduti , Kamel Mamchaoui , Cecile Martinat , Ruben Artero et al.
Cellular and Molecular Life Sciences, 2022, 79 (8), pp.441. ⟨10.1007/s00018-022-04450-8⟩
Journal articles hal-03832679v1
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Deciphering the Molecular Mechanism of Incurable Muscle Disease by a Novel Method for the Interpretation of miRNA Dysregulation

David Israeli , Ai Vu Hong , Guillaume Corre , Quentin Miagoux , Isabelle Richard et al.
Non-Coding RNA, 2022, 8 (4), pp.48. ⟨10.3390/ncrna8040048⟩
Journal articles hal-03874746v1
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MELAS syndrome causes glutamate and tricarboxylic acid cycle dysfunctions alleviated by ketone body treatment

Sophie Belal , David Goudenège , Cinzia Bocca , Florent Dumont , Juan Manuel Chao de la Barca et al.
Biomedicines, 2022, 10 (7), pp.1665. ⟨10.3390/biomedicines10071665⟩
Journal articles hal-03861087v1

MBNL-dependent impaired development connectivity within neuromuscular circuits in myotonic dystrophy type 1

Julie Tahraoui-Bories , Antoine Mérien , Florine Roussange , Anchel González-Barriga , Jeanne Lainé et al.
International Myotonic Dystrophy Consortium Meeting, Jun 2022, Osaka, Japan
Conference poster hal-04006954v1

Myotonic dystrophy RNA toxicity alters morphology, adhesion and migration of mouse and human astrocytes

Diana Mihaela Dincã , Louison Lallemant , Anchel González-Barriga , Noemie Cresto , Sandra Braz et al.
International Myotonic Dystrophy Consortium Meeting, Jun 2022, Osaka, Japan
Conference poster hal-04006873v1

Target-agnostic drug discovery approach using informative high-content imaging for identification of a myogenic modulator in DM1 context

Florine Roussange , Amélie Weiss , Kalina Radoynovska , Jacqueline Gide , Johana Tournois et al.
International Myotonic Dystrophy Consortium Meeting IDMC-13, May 2022, Osaka, Japan
Conference poster hal-04022935v1

MN dependent-impaired development connectivity within neuromuscular circuits in Myotonic Dystrophy type 1

Julie Tahraoui-Bories , Antoine Mérien , Florine Roussange , Anchel Gonzalez-Barriga , Jeanne Lainé et al.
International Myotonic Dystrophy Consortium Meeting IDMC-13, May 2022, Osaka, Japan
Conference poster hal-04022921v1
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Dual Blockade of Misfolded Alpha-Sarcoglycan Degradation by Bortezomib and Givinostat Combination

Lucile Hoch , Nathalie Bourg , Fanny Degrugillier , Céline Bruge , Manon Benabides et al.
Frontiers in Pharmacology, 2022, 13, ⟨10.3389/fphar.2022.856804⟩
Journal articles hal-03874719v1

Overcoming the Challenges Imposed by Humoral Immunity to AAV Vectors to Achieve Safe and Efficient Gene Transfer in Seropositive Patients

David-Alexandre Gross , Novella Tedesco , Christian Leborgne , Giuseppe Ronzitti
Frontiers in Immunology, 2022, 13, ⟨10.3389/fimmu.2022.857276⟩
Journal articles hal-03640310v1
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Systemic and local immune responses to intraocular AAV vector administration in non-human primates

Divya Ail , Duohao Ren , Elena Brazhnikova , Céline Nouvel-Jaillard , Stephane Bertin et al.
Molecular Therapy - Methods and Clinical Development, 2022, 24, pp.306 - 316. ⟨10.1016/j.omtm.2022.01.011⟩
Journal articles hal-03602826v1
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Cytokines, chemokines and growth factors profile in human aqueous humor in idiopathic uveitis

Marie-Hélène Errera , Ana Pratas , Sylvain Fisson , Thomas Manicom , Marouane Boubaya et al.
PLoS ONE, 2022, 17 (1), pp.e0254972. ⟨10.1371/journal.pone.0254972⟩
Journal articles hal-03568725v1
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Generation of a heterozygous SCN5A knockout human induced pluripotent stem cell line by CRISPR/Cas9 edition

Marie Gizon , Laëtitia Duboscq-Bidot , Lina El Kassar , Pierre Bobin , Flavie Ader et al.
Stem Cell Research, 2022, 60, pp.102680. ⟨10.1016/j.scr.2022.102680⟩
Journal articles hal-03549731v1
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CRISPR gene editing in pluripotent stem cells reveals the function of MBNL proteins during human in vitro myogenesis

Antoine Mérien , Julie Tahraoui-Bories , Michel Cailleret , Jean-Baptiste Dupont , Céline Leteur et al.
Human Molecular Genetics, 2022, 31 (1), pp.41-56. ⟨10.1093/hmg/ddab218⟩
Journal articles hal-03830948v1
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Myotonic dystrophy RNA toxicity alters morphology, adhesion and migration of mouse and human astrocytes

Diana Dincã , Louison Lallemant , Anchel González-Barriga , Noémie Cresto , Sandra Braz et al.
Nature Communications, 2022, 13 (1), pp.3841. ⟨10.1038/s41467-022-31594-9⟩
Journal articles hal-03715682v1