J
Jérôme Ausseil
Researcher at University of Picardie Jules Verne
Publications - 35
Citations - 676
Jérôme Ausseil is an academic researcher from University of Picardie Jules Verne. The author has contributed to research in topics: Medicine & Internal medicine. The author has an hindex of 12, co-authored 27 publications receiving 544 citations. Previous affiliations of Jérôme Ausseil include Université de Montréal & French Institute of Health and Medical Research.
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Journal ArticleDOI
Intracerebral gene therapy in children with mucopolysaccharidosis type IIIB syndrome: an uncontrolled phase 1/2 clinical trial.
Marc Tardieu,M. Zerah,Marie-Lise Gougeon,Jérôme Ausseil,Stéphanie de Bournonville,Béatrice Husson,Dimitrios I. Zafeiriou,Giancarlo Parenti,Philippe Bourget,Béatrice Poirier,Valérie Furlan,Cecile Artaud,Thomas Baugnon,Thomas Roujeau,Ronald G. Crystal,Christian Meyer,Kumaran Deiva,Jean-Michel Heard +17 more
TL;DR: Intracerebral rAVV2/5 gene therapy for mucopolysaccharidosis type IIIB syndrome was well tolerated and induced sustained enzyme production in the brain, and the initial specific anti-NAGLU immune response later subsided suggested acquired immunological tolerance.
Journal ArticleDOI
Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model
Carla Martins,Helena Hůlková,Larbi Dridi,Virginie Dormoy-Raclet,Lubov S. Grigoryeva,Yoo Choi,Alex Langford-Smith,Fiona L. Wilkinson,Kazuhiro Ohmi,Graziella DiCristo,Edith Hamel,Jérôme Ausseil,David Cheillan,Alain Moreau,Eva Svobodová,Zuzana Hájková,Markéta Tesařová,Hana Hansikova,Brian W. Bigger,M. Hrebicek,Alexey V. Pshezhetsky +20 more
TL;DR: In this paper, a mouse model of mucopolysaccharidosis III type C was generated by germline inactivation of the HGSNAT gene leading to deficiency of acetyl-CoA: α-glucosaminide N-acetyltransferase involved in the lysosomal catabolism of heparan sulphate.
Journal ArticleDOI
Gene therapy of the brain in the dog model of Hurler's syndrome.
Carine Ciron,Nathalie Desmaris,Marie-Anne Colle,Sylvie Raoul,Béatrice Joussemet,Lucie Verot,Jérôme Ausseil,Roseline Froissart,Françoise A. Roux,Yan Cherel,Nicolas Ferry,Yaouen Lajat,Bertrand Schwartz,Marie-Thérèse Vanier,Irène Maire,Marc Tardieu,Philippe Moullier,Jean-Michel Heard,Jean-Michel Heard +18 more
TL;DR: Delivery of the missing enzyme through stereotactic injection of adeno‐associated virus vectors coding for IDUA prevents neuropathology in affected mice and in enzyme‐deficient dogs.
Journal ArticleDOI
Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)
Martin Hřebíček,Lenka Mrázová,Volkan Seyrantepe,Stéphanie Durand,Nicole M. Roslin,Lenka Nosková,Hana Hartmannová,Robert Ivanek,Alena Čížková,Helena Poupětová,Jakub Sikora,Jana Uřinovská,Viktor Stránecký,Jiří Zeman,Pierre Lepage,David Roquis,Andrei Verner,Jérôme Ausseil,Clare E. Beesley,Irène Maire,Ben J. H. M. Poorthuis,Jiddeke M. van de Kamp,Otto P. van Diggelen,Ron A. Wevers,Thomas J. Hudson,T. Mary Fujiwara,T. Mary Fujiwara,Jacek Majewski,Kenneth Morgan,Kenneth Morgan,Stanislav Kmoch,Alexey V. Pshezhetsky +31 more
TL;DR: Functional expression of human TMEM76 and the mouse ortholog demonstrates that it is the gene that encodes the lysosomal N-acetyltransferase and suggests that this enzyme belongs to a new structural class of proteins that transport the activated acetyl residues across the cell membrane.
Journal ArticleDOI
Heparan sulfate saccharides modify focal adhesions: implication in mucopolysaccharidosis neuropathophysiology.
Julie Bruyère,Elise Roy,Jérôme Ausseil,Thomas Lemonnier,Guillaume Teyre,Delphine Bohl,Sandrine Etienne-Manneville,Hugues Lortat-Jacob,Jean Michel Heard,Sandrine Vitry +9 more
TL;DR: It is shown that exposure of wild-type neural cells to exogenous soluble HS fragments of at least eight saccharides activated integrin-based focal adhesions, which attach cells to the extracellular matrix, and that cell polarisation and oriented migration defects participate to the neurological disorders associated with Sanfilippo syndrome.