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

HEREDITARY NEUROPATHIES & ALS

Autor: Thibaut Marais, M. Biferi, B. Giroux, M. Delamare, M. Cohen-Tannoudji, S. Elouej, S. Pezet, S. Astord, M. Cappella

Publikováno v: Neuromuscular Disorders. 30:S79

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::239440614e7826877ff48daeeb8abe42
https://doi.org/10.1016/j.nmd.2020.08.114

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Latent TGF-beta-binding protein 4 modulates disease severity in the knock-out mouse model of Pompe disease

Autor: Nicolas Guerchet, Guillaume Tanniou, Federico Mingozzi, Bernard Gjata, M. Biferi, Pauline Sellier, Laetitia van Wittenberghe, Umut Cagin, Pasqualina Colella

Publikováno v: Molecular Genetics and Metabolism. 126:S41

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4d95e776df8ad153acb6ce9432654763
https://doi.org/10.1016/j.ymgme.2018.12.086

A new AAV10-mediated gene therapy for SOD1 -linked ALS

Autor: Thomas Voit, S. Astord, Arnaud Ferry, M. Roda, M. Biferi, Martine Barkats, Thibaut Marais, M. Cohen-Tannoudji, A. Cappelletto, B. Giroux

Publikováno v: Neuromuscular Disorders. 27:S246

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6b9c7daba44b168516e35d8f902d8810
https://doi.org/10.1016/j.nmd.2017.06.542