Recherche - Archive ouverte HAL Accéder directement au contenu

Filtrer vos résultats

21 résultats

Characterization of pathological features in skeletal muscles of acid ceramidase deficient mice and correction by gene therapy

Marion Derome , Jérôme Denard , Delphine Bonnin , Virginie Latournerie , Jeffrey A. Medin , et al.
19èmes journées de la Société Française de Myologie, Nov 2022, Toulouse, France
Poster de conférence hal-04484348v1

Characterization of pathological features in skeletal muscles of acid ceramidase deficient mice and correction by gene therapy

Marion Derome , Jérôme Denard , Delphine Bonnin , Virginie Latournerie , Jeffrey A. Medin , et al.
MYOLOGY 2022, Sep 2022, Nice, France
Poster de conférence hal-04484331v1

Cross-talking noncoding RNAs contribute to cell-specific neurodegeneration in SCA7

Jennifer Tan , Keith Vance , Miguel Varela , Tamara Sirey , Lauren Watson , et al.
Nature Structural and Molecular Biology, 2014, 21 (11), pp.955-961. ⟨10.1038/nsmb.2902⟩
Article dans une revue hal-04360394v1

AAVpo1.A1 vectors for gene transfer in muscles and spinal motoneurons

Edith Renaud-Gabardos , Celia Sourd , Louise Mangin , Martina Marinello , Paloma Navas-Navarro , et al.
Myology, Sep 2022, Nice, France
Poster de conférence hal-04426946v1

Gene therapy of spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME)

Jérôme Denard , Martina Marinello , Virginie Latournerie , Delphine Bonnin , Karine Poulard , et al.
SMA Europe, Oct 2022, Barcelone (Spain), Spain
Communication dans un congrès hal-04446739v1

AAV-mediated gene therapy corrects the severe phenotype of acid ceramidase deficient mice

Jérôme Denard , Martina Marinello , Virginie Latournerie , Delphine Bonnin , Marion Derome , et al.
ASGCT 2023, May 2023, Los Ageles, United States
Poster de conférence hal-04453843v1

The autophagy/lysosome pathway is impaired in SCA7 patients and SCA7 knock-in mice

Sandro Alves , Florence Cormier-Dequaire , Martina Marinello , Thibaut Marais , Marie-Paule Muriel , et al.
Acta Neuropathologica, 2014, 128 (5), pp.705-722. ⟨10.1007/s00401-014-1289-8⟩
Article dans une revue hal-04360399v1

Interferon beta induces clearance of mutant ataxin 7 and improves locomotion in SCA7 knock-in mice

Alice Chort , Sandro Alves , Martina Marinello , Béatrice Dufresnois , Jean-Gabriel Dornbierer , et al.
Brain - A Journal of Neurology , 2013, 136 (6), pp.1732-1745. ⟨10.1093/brain/awt061⟩
Article dans une revue hal-04360391v1

AAV-mediated gene therapy of acid ceramidase deficiency

Jérôme Denard , Martina Marinello , Virginie Latournerie , Delphine Bonnin , Marion Derome , et al.
Myology 2022, Sep 2022, Nice, France
Poster de conférence hal-04453834v1

AAV-mediated gene therapy of spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) and Farber disease

Jérôme Denard , Martina Marinello , Virginie Latournerie , Delphine Bonnin , Karine Poulard , et al.
ASGCT 2022, May 2022, Washinghton DC, United States
Poster de conférence hal-04453821v1

Intravenous Administration of a MTMR2-Encoding AAV Vector Ameliorates the Phenotype of Myotubular Myopathy in Mice

Nathalie Danièle , Christelle Moal , Laura Julien , Martina Marinello , Thibaud Jamet , et al.
Journal of Neuropathology and Experimental Neurology, 2018, 77 (4), pp.282-295. ⟨10.1093/jnen/nly002⟩
Article dans une revue hal-04481600v1

Characterization of Neuromuscular Junctions in Mice by Combined Confocal and Super-Resolution Microscopy

Martina Marinello , Jérémie Cosette , Caroline Bogni , Jérôme Denard , Daniel Stockholm , et al.
Journal of visualized experiments : JoVE, 2021, 178, ⟨10.3791/63032-v⟩
Article dans une revue hal-04360377v1

Vectors for the treatment of acid ceramidase deficiency

Jérôme Denard , Martina Marinello , Ana Buj-Bello
France, Patent n° : WO/2021/209521. 2021
Brevet hal-04455484v1

Characterization of Neuromuscular Junctions in Mice by Combined Confocal and Super-Resolution Microscopy

Martina Marinello , Jérémie Cosette , Caroline Bogni , Jérôme Denard , Daniel Stockholm , et al.
Journal of visualized experiments : JoVE, 2021, 178, ⟨10.3791/63032⟩
Article dans une revue hal-04381113v1
Image document

Ataxin-7 SUMOylation and its functional consequences in the spinocerebellar ataxia type 7 (SCA7) pathophysiology

Martina Marinello
Neurons and Cognition [q-bio.NC]. Université Pierre et Marie Curie - Paris VI, 2014. English. ⟨NNT : 2014PA066266⟩
Thèse tel-01374194v1

Spastin regulates VAMP7-containing vesicles trafficking in cortical neurons

C. Plaud , V. Joshi , M. Marinello , D. Pastré , T. Galli , et al.
Biochimica et Biophysica Acta - Molecular Basis of Disease, 2017, 1863 (6), pp.1666-1677. ⟨10.1016/j.bbadis.2017.04.007⟩
Article dans une revue hal-02173641v1

Intravenous Administration of a MTMR2-Encoding AAV Vector Ameliorates the Phenotype of Myotubular Myopathy in Mice

N. Daniele , C. Moal , L. Julien , M. Marinello , T. Jamet , et al.
J Neuropathol Exp Neurol, 2018, 77, pp.282-295. ⟨10.1093/jnen/nly002⟩
Article dans une revue hal-02880793v1

Treatment of spinal muscular atrophy

Ana Buj-Bello , Martina Marinello , Samia Martin
France, Patent n° : EP17305895.9. 2017
Brevet hal-04482859v1
Image document

Lentiviral vector-mediated overexpression of mutant ataxin-7 recapitulates SCA7 pathology and promotes accumulation of the FUS/TLS and MBNL1 RNA-binding proteins

Sandro Alves , Thibaut Marais , Maria-Grazia Biferi , Denis Furling , Martina Marinello , et al.
Molecular Neurodegeneration, 2016, 11, pp.58. ⟨10.1186/s13024-016-0123-2⟩
Article dans une revue hal-01371536v1
Image document

SUMOylation by SUMO2 is implicated in the degradation of misfolded ataxin-7 via RNF4 in SCA7 models

Martina Marinello , Andreas Werner , Mariagiovanna Giannone , Khadija Tahiri , Sandro Alves , et al.
Disease Models & Mechanisms, 2019, 12 (1), pp.dmm036145. ⟨10.1242/dmm.036145⟩
Article dans une revue hal-02284192v1

Vectors for the treatment of acid ceramidase deficiency

Ana Buj-Bello , Martina Marinello , Jérôme Denard
France, Patent n° : EP20169463.5. 2020
Brevet hal-04482824v1