Cargando…
Personalized in vitro Extracellular Matrix Models of Collagen VI-Related Muscular Dystrophies
Collagen VI-related dystrophies (COL6-RDs) are a group of rare congenital neuromuscular dystrophies that represent a continuum of overlapping clinical phenotypes that go from the milder Bethlem myopathy (BM) to the severe Ullrich congenital muscular dystrophy, for which there is no effective treatme...
Autores principales: | Almici, Enrico, Chiappini, Vanessa, López-Márquez, Arístides, Badosa, Carmen, Blázquez, Blanca, Caballero, David, Montero, Joan, Natera-de Benito, Daniel, Nascimento, Andrés, Roldán, Mònica, Lagunas, Anna, Jiménez-Mallebrera, Cecilia, Samitier, Josep |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9081367/ https://www.ncbi.nlm.nih.gov/pubmed/35547158 http://dx.doi.org/10.3389/fbioe.2022.851825 |
Ejemplares similares
-
The Capillary Morphogenesis Gene 2 Triggers the Intracellular Hallmarks of Collagen VI-Related Muscular Dystrophy
por: Castroflorio, Enrico, et al.
Publicado: (2022) -
Longitudinal Study of Three microRNAs in Duchenne Muscular Dystrophy and Becker Muscular Dystrophy
por: Trifunov, Selena, et al.
Publicado: (2020) -
CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts
por: López-Márquez, Arístides, et al.
Publicado: (2022) -
Proteomic and functional characterisation of extracellular vesicles from collagen VI deficient human fibroblasts reveals a role in cell motility
por: Badosa, Carmen, et al.
Publicado: (2023) -
Transcriptome analysis of collagen VI‐related muscular dystrophy muscle biopsies
por: Guadagnin, Eleonora, et al.
Publicado: (2021)