Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Bàrbara Flix"'
Autor:
Eduard Gallardo, Noemi de Luna, Jordi Diaz-Manera, Ricardo Rojas-García, Lidia Gonzalez-Quereda, Bàrbara Flix, Antoine de Morrée, Silvère van der Maarel, Isabel Illa
Publikováno v:
PLoS ONE, Vol 6, Iss 12, p e29061 (2011)
BackgroundDysferlinopathies are caused by mutations in the dysferlin gene (DYSF). Diagnosis is complex due to the high clinical variability of the disease and because dysferlin expression in the muscle biopsy may be secondarily reduced due to a prima
Externí odkaz:
https://doaj.org/article/a2790daf220b462ebf310415059896be
Autor:
Marina L. Garcia-Vaquero, Marjorie Heim, Barbara Flix, Marcelo Pereira, Lucile Palin, Tânia M. Marques, Francisco R. Pinto, Javier de Las Rivas, Aaron Voigt, Florence Besse, Margarida Gama-Carvalho
Publikováno v:
BMC Genomics, Vol 24, Iss 1, Pp 1-19 (2023)
Abstract Background Spinal Muscular Atrophy (SMA) and Amyotrophic Lateral Sclerosis (ALS) share phenotypic and molecular commonalities, including the fact that they can be caused by mutations in ubiquitous proteins involved in RNA metabolism, namely
Externí odkaz:
https://doaj.org/article/c0eb6c41b5cf40b5b61bd6310c394c4f
Autor:
Eva Santos-Nogueira, Xavier Navarro, Jordi Barquinero, Bàrbara Flix, Eduard Gallardo, Xavier Suárez-Calvet, Isabel Illa, Renzo Mancuso, Miquel Navas, Jordi Díaz-Manera
Publikováno v:
STEM CELLS AND DEVELOPMENT
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Stem cells and development
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Stem cells and development
Dysferlinopathies are caused by mutations in the DYSF gene. Dysferlin is a protein mainly expressed in the skeletal muscle and monocytes. Cell therapy constitutes a promising tool for the treatment of muscular dystrophies. The aim of our study was to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20d667a1e86f0137e195b90c03fdc911
https://pubmed.ncbi.nlm.nih.gov/23777246
https://pubmed.ncbi.nlm.nih.gov/23777246
Publikováno v:
INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Dysferlinopathies are a group of progressive muscular dystrophies characterized by mutations in the gene DYSF. These mutations cause scarcity or complete absence of dysferlin, a protein that is expressed in skeletal muscle and plays a role in membran
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e9a219f9d1a34b1ac6dd6acf4c62f23
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=9757
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=9757
Autor:
Laure Grand Moursel, Rune R. Frants, Jun Wang, René E. M. Toes, Ivana Bagaric, Silvère M. van der Maarel, Eduard Gallardo, Bàrbara Flix, Antoine de Morrée, Isabel Illa, Marlinde L. van den Boogaard
Publikováno v:
JOURNAL OF BIOLOGICAL CHEMISTRY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Journal of Biological Chemistry, 288(20), 14147-14157
de Morrée, A, Flix, B, Bagaric, I, Wang, J, van den Boogaard, M, Grand Moursel, L, Frants, R R, Illa, I, Gallardo, E, Toes, R & van der Maarel, S M 2013, ' Dysferlin regulates cell adhesion in human monocytes ', The Journal of Biological Chemistry, vol. 288, no. 20, pp. 14147-14157 . https://doi.org/10.1074/jbc.M112.448589
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Journal of Biological Chemistry, 288(20), 14147-14157
de Morrée, A, Flix, B, Bagaric, I, Wang, J, van den Boogaard, M, Grand Moursel, L, Frants, R R, Illa, I, Gallardo, E, Toes, R & van der Maarel, S M 2013, ' Dysferlin regulates cell adhesion in human monocytes ', The Journal of Biological Chemistry, vol. 288, no. 20, pp. 14147-14157 . https://doi.org/10.1074/jbc.M112.448589
Dysferlin is mutated in a group of muscular dystrophies commonly referred to as dysferlinopathies. It is highly expressed in skeletal muscle, where it is important for sarcolemmal maintenance. Recent studies show that dysferlin is also expressed in m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed5bf61dc43b228f7acaa8aa2ad1ec10
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=10011
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=10011