Výsledky vyhledávání - "Nicolas Guerchet"

Akademický článek

An engineered AAV targeting integrin alpha V beta 6 presents improved myotropism across species

Autor: Ai Vu Hong, Laurence Suel, Eva Petat, Auriane Dubois, Pierre-Romain Le Brun, Nicolas Guerchet, Philippe Veron, Jérôme Poupiot, Isabelle Richard

Publikováno v: Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)

Abstract Current adeno-associated virus (AAV) gene therapy using nature-derived AAVs is limited by non-optimal tissue targeting. In the treatment of muscular diseases (MD), high doses are often required but can lead to severe adverse effects. Here, w

Externí odkaz: https://doaj.org/article/2e8bc0e4254344a1a716b976440ae501

Zobrazit plný text záznamu

Akademický článek

AAV Gene Transfer with Tandem Promoter Design Prevents Anti-transgene Immunity and Provides Persistent Efficacy in Neonate Pompe Mice

Autor: Pasqualina Colella, Pauline Sellier, Helena Costa Verdera, Francesco Puzzo, Laetitia van Wittenberghe, Nicolas Guerchet, Nathalie Daniele, Bernard Gjata, Solenne Marmier, Severine Charles, Marcelo Simon Sola, Isabella Ragone, Christian Leborgne, Fanny Collaud, Federico Mingozzi

Publikováno v: Molecular Therapy: Methods & Clinical Development, Vol 12, Iss , Pp 85-101 (2019)

Hepatocyte-restricted, AAV-mediated gene transfer is being used to provide sustained, tolerogenic transgene expression in gene therapy. However, given the episomal status of the AAV genome, this approach cannot be applied to pediatric disorders when

Externí odkaz: https://doaj.org/article/a3d927f9d1284167b0026e3289c81292

Zobrazit plný text záznamu

Akademický článek

Gene therapy with secreted acid alpha-glucosidase rescues Pompe disease in a novel mouse model with early-onset spinal cord and respiratory defects

Autor: Pasqualina Colella, Pauline Sellier, Manuel J. Gomez, Maria G. Biferi, Guillaume Tanniou, Nicolas Guerchet, Mathilde Cohen-Tannoudji, Maryse Moya-Nilges, Laetitia van Wittenberghe, Natalie Daniele, Bernard Gjata, Jacomina Krijnse-Locker, Fanny Collaud, Marcelo Simon-Sola, Severine Charles, Umut Cagin, Federico Mingozzi

Publikováno v: EBioMedicine, Vol 61, Iss , Pp 103052- (2020)

Background: Pompe disease (PD) is a neuromuscular disorder caused by deficiency of acidalpha-glucosidase (GAA), leading to motor and respiratory dysfunctions. Available Gaa knock-out (KO) mouse models do not accurately mimic PD, particularly its high

Externí odkaz: https://doaj.org/article/b40273c36d86481faec84538d64a84c4

Zobrazit plný text záznamu

Akademický článek

Cardiac characterization of sgca-null mice using high resolution echocardiography

Autor: Abdallah Fayssoil, Gilles Renault, Nicolas Guerchet, Carmen Marchiol-Fournigault, Françoise Fougerousse, Isabelle Richard

Publikováno v: Neurology International, Vol 5, Iss 4, Pp e22-e22 (2013)

Limb-girdle muscular dystrophy 2D (LGMD2D) is an inherited myogenic disorder belonging to the group of muscular dystrophies. Sgca-null mouse is a knock-out model of LGMD2D. Little is known about cardiac phenotype characterization in this model at dif

Externí odkaz: https://doaj.org/article/d6571a1f9a30438e94742766df39e590

Zobrazit plný text záznamu

Gene therapy with secreted acid alpha-glucosidase rescues Pompe disease in a novel mouse model with early-onset spinal cord and respiratory defects

Autor: M. Biferi, Bernard Gjata, Nicolas Guerchet, Laetitia van Wittenberghe, Fanny Collaud, N. Danièle, Manuel Gómez, Severine Charles, Pauline Sellier, M. Cohen-Tannoudji, Guillaume Tanniou, Federico Mingozzi, Jacomina Krijnse-Locker, Umut Cagin, Maryse Moya-Nilges, Pasqualina Colella, Marcelo Simon-Sola

Publikováno v: EBioMedicine
EBioMedicine, Elsevier, 2020, 61, pp.103052. ⟨10.1016/j.ebiom.2020.103052⟩
EBioMedicine, 2020, 61, pp.103052. ⟨10.1016/j.ebiom.2020.103052⟩
Repisalud
Instituto de Salud Carlos III (ISCIII)
EBioMedicine, Vol 61, Iss, Pp 103052-(2020)

Pompe disease (PD) is a neuromuscular disorder caused by deficiency of acidalpha-glucosidase (GAA), leading to motor and respiratory dysfunctions. Available Gaa knock-out (KO) mouse models do not accurately mimic PD, particularly its highly impaired

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5c0d93301c622ae98c59c2db3b01cb1
https://hal.sorbonne-universite.fr/hal-03163331/document

Zobrazit plný text záznamu

Rescue of Advanced Pompe Disease in Mice with Hepatic Expression of Secretable Acid α-Glucosidase

Autor: Severine Charles, Catalina Abad, Nathalie Daniele, Laetitia van Wittenberghe, Jacomina Krijnse-Locker, Maryse Moya-Nilges, Umut Cagin, Marcelo Simon Sola, Fanny Collaud, Bernard Gjata, Francesco Puzzo, Pasqualina Colella, Nicolas Guerchet, Manuel Gómez, Giuseppe Ronzitti, Olivier Boyer, Pauline Sellier, Federico Mingozzi

Publikováno v: Repisalud
Instituto de Salud Carlos III (ISCIII)
Molecular Therapy
Molecular Therapy, Cell Press, 2020, 28, pp.2056-2072. ⟨10.1016/j.ymthe.2020.05.025⟩
Molecular Therapy, 2020, 28, pp.2056-2072. ⟨10.1016/j.ymthe.2020.05.025⟩

Pompe disease is a neuromuscular disorder caused by disease-associated variants in the gene encoding for the lysosomal enzyme acid α-glucosidase (GAA), which converts lysosomal glycogen to glucose. We previously reported full rescue of Pompe disease

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1e8ec7f6bb13ae6625dc2e5499dad45
http://hdl.handle.net/20.500.12105/13176

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání