Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Julien Fabregue"'
Autor:
Helena Costa-Verdera, Fanny Collaud, Christopher R. Riling, Pauline Sellier, Jayme M. L. Nordin, G. Michael Preston, Umut Cagin, Julien Fabregue, Simon Barral, Maryse Moya-Nilges, Jacomina Krijnse-Locker, Laetitia van Wittenberghe, Natalie Daniele, Bernard Gjata, Jeremie Cosette, Catalina Abad, Marcelo Simon-Sola, Severine Charles, Mathew Li, Marco Crosariol, Tom Antrilli, William J. Quinn, David A. Gross, Olivier Boyer, Xavier M. Anguela, Sean M. Armour, Pasqualina Colella, Giuseppe Ronzitti, Federico Mingozzi
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-16 (2021)
Pompe disease is currently treated with enzyme replacement therapy (ERT) with recombinant human acid alpha-glucosidase (GAA). Here, the authors show hepatic-directed gene therapy with AAV vectors enhances GAA bioavailability compared with ERT, result
Externí odkaz:
https://doaj.org/article/ecdd7a66d5fe4b0e825ff6e616f835cf
Autor:
Pascal Laforêt, Michio Inoue, Evelyne Goillot, Claire Lefeuvre, Umut Cagin, Nathalie Streichenberger, Sarah Leonard-Louis, Guy Brochier, Angeline Madelaine, Clemence Labasse, Carola Hedberg-Oldfors, Thomas Krag, Louisa Jauze, Julien Fabregue, Philippe Labrune, Jose Milisenda, Aleksandra Nadaj-Pakleza, Sabrina Sacconi, Federico Mingozzi, Giuseppe Ronzitti, François Petit, Benedikt Schoser, Anders Oldfors, John Vissing, Norma B. Romero, Ichizo Nishino, Edoardo Malfatti
Publikováno v:
Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-16 (2019)
Abstract Glycogen storage disorder type III (GSDIII), or debranching enzyme (GDE) deficiency, is a rare metabolic disorder characterized by variable liver, cardiac, and skeletal muscle involvement. GSDIII manifests with liver symptoms in infancy and
Externí odkaz:
https://doaj.org/article/93fd2c97c0914ab89cce0bad8ec56750
Autor:
Catalina Abad, N. Danièle, Jayme M.L. Nordin, Giuseppe Ronzitti, Bernard Gjata, Helena Costa-Verdera, Simon Barral, Sean M. Armour, Marcelo Simon-Sola, Fanny Collaud, Marco Crosariol, Julien Fabregue, David A. Gross, Mathew Li, Jérémie Cosette, Laetitia van Wittenberghe, Pasqualina Colella, Maryse Moya-Nilges, G. Michael Preston, Christopher Riling, Xavier M. Anguela, Federico Mingozzi, Severine Charles, Pauline Sellier, Tom Antrilli, William J. Quinn, Umut Cagin, Jacomina Krijnse-Locker, Olivier Boyer
Publikováno v:
Nature Communications
Nature Communications, 2021, 12 (1), pp.6393. ⟨10.1038/s41467-021-26744-4⟩
Nature Communications, Vol 12, Iss 1, Pp 1-16 (2021)
Nature Communications, Nature Publishing Group, 2021, 12 (1), pp.6393. ⟨10.1038/s41467-021-26744-4⟩
Nature Communications, 2021, 12 (1), pp.6393. ⟨10.1038/s41467-021-26744-4⟩
Nature Communications, Vol 12, Iss 1, Pp 1-16 (2021)
Nature Communications, Nature Publishing Group, 2021, 12 (1), pp.6393. ⟨10.1038/s41467-021-26744-4⟩
Pompe disease (PD) is a severe neuromuscular disorder caused by deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). PD is currently treated with enzyme replacement therapy (ERT) with intravenous infusions of recombinant human GAA (rhGAA)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a1664cfde76136fe6521768528975a1
https://hal.sorbonne-universite.fr/hal-03449262/document
https://hal.sorbonne-universite.fr/hal-03449262/document
Publikováno v:
Biochemical and Biophysical Research Communications
Biochemical and Biophysical Research Communications, Elsevier, 2019, 511 (3), pp.658-664. ⟨10.1016/j.bbrc.2019.02.033⟩
Biochemical and Biophysical Research Communications, 2019, 511 (3), pp.658-664. ⟨10.1016/j.bbrc.2019.02.033⟩
Biochemical and Biophysical Research Communications, Elsevier, 2019, 511 (3), pp.658-664. ⟨10.1016/j.bbrc.2019.02.033⟩
Biochemical and Biophysical Research Communications, 2019, 511 (3), pp.658-664. ⟨10.1016/j.bbrc.2019.02.033⟩
International audience; Mitochondria play a vital role in proliferation and differentiation and their remodeling in the course of differentiation is related to the variable energy and metabolic needs of the cell. In this work, we show a distinctive m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fda1d35900ef3a0e3bc85577c2e15c6
https://hal.archives-ouvertes.fr/hal-02414270
https://hal.archives-ouvertes.fr/hal-02414270
Autor:
Philippe Labrune, José C. Milisenda, Sarah Leonard-Louis, Thomas Krag, Benedikt Schoser, Louisa Jauze, Aleksandra Nadaj-Pakleza, Giuseppe Ronzitti, Claire Lefeuvre, Guy Brochier, Sabrina Sacconi, Ichizo Nishino, Federico Mingozzi, Carola Hedberg-Oldfors, Michio Inoue, Edoardo Malfatti, François Petit, Evelyne Goillot, Umut Cagin, Nathalie Streichenberger, Clémence Labasse, A. Madelaine, Julien Fabregue, John Vissing, Pascal Laforêt, Anders Oldfors, Norma B. Romero
Publikováno v:
Acta Neuropathologica Communications
Acta Neuropathologica Communications, 2019, 7 (1), ⟨10.1186/s40478-019-0815-2⟩
Acta Neuropathologica Communications, BioMed Central part of Springer Science, 2019, 7 (1), ⟨10.1186/s40478-019-0815-2⟩
Laforêt, P, Inoue, M, Goillot, E, Lefeuvre, C, Cagin, U, Streichenberger, N, Leonard-Louis, S, Brochier, G, Madelaine, A, Labasse, C, Hedberg-Oldfors, C, Krag, T, Jauze, L, Fabregue, J, Labrune, P, Milisenda, J, Nadaj-Pakleza, A, Sacconi, S, Mingozzi, F, Ronzitti, G, Petit, F, Schoser, B, Oldfors, A, Vissing, J, Romero, N B, Nishino, I & Malfatti, E 2019, ' Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment ', Acta Neuropathologica Communications, vol. 7, 167 . https://doi.org/10.1186/s40478-019-0815-2
Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-16 (2019)
Acta Neuropathologica Communications, 2019, 7 (1), ⟨10.1186/s40478-019-0815-2⟩
Acta Neuropathologica Communications, BioMed Central part of Springer Science, 2019, 7 (1), ⟨10.1186/s40478-019-0815-2⟩
Laforêt, P, Inoue, M, Goillot, E, Lefeuvre, C, Cagin, U, Streichenberger, N, Leonard-Louis, S, Brochier, G, Madelaine, A, Labasse, C, Hedberg-Oldfors, C, Krag, T, Jauze, L, Fabregue, J, Labrune, P, Milisenda, J, Nadaj-Pakleza, A, Sacconi, S, Mingozzi, F, Ronzitti, G, Petit, F, Schoser, B, Oldfors, A, Vissing, J, Romero, N B, Nishino, I & Malfatti, E 2019, ' Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment ', Acta Neuropathologica Communications, vol. 7, 167 . https://doi.org/10.1186/s40478-019-0815-2
Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-16 (2019)
Glycogen storage disorder type III (GSDIII), or debranching enzyme (GDE) deficiency, is a rare metabolic disorder characterized by variable liver, cardiac, and skeletal muscle involvement. GSDIII manifests with liver symptoms in infancy and muscle in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2eb15cd238b3121019b945a96904bcf0
https://hal.science/hal-02414161
https://hal.science/hal-02414161