Proteomic and functional characterisation of extracellular vesicles from collagen VI deficient human fibroblasts reveals a role in cell motility

por Badosa, Carmen, Roldán, Mónica, Fernández-Irigoyen, Joaquín, Santamaria, Enrique, Jimenez-Mallebrera, Cecilia
Publicado 2023

EZH2 regulates neuroepithelium structure and neuroblast proliferation by repressing p21

por Akizu, Naiara, García, María Alejandra, Estarás, Conchi, Fueyo, Raquel, Badosa, Carmen, de la Cruz, Xavier, Martínez-Balbás, Marian A.
Publicado 2016

The Capillary Morphogenesis Gene 2 Triggers the Intracellular Hallmarks of Collagen VI-Related Muscular Dystrophy

por Castroflorio, Enrico, Pérez Berná, Ana Joaquina, López-Márquez, Arístides, Badosa, Carmen, Loza-Alvarez, Pablo, Roldán, Mónica, Jiménez-Mallebrera, Cecilia
Publicado 2022

Longitudinal Study of Three microRNAs in Duchenne Muscular Dystrophy and Becker Muscular Dystrophy

por Trifunov, Selena, Natera-de Benito, Daniel, Exposito Escudero, Jesica Maria, Ortez, Carlos, Medina, Julita, Cuadras, Daniel, Badosa, Carmen, Carrera, Laura, Nascimento, Andres, Jimenez-Mallebrera, Cecilia
Publicado 2020

Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency

por de Fuenmayor-Fernández de la Hoz, Carlos Pablo, Morís, Germán, Jiménez-Mallebrera, Cecilia, Badosa, Carmen, Hernández-Laín, Aurelio, Blázquez Encinar, Alberto, Martín, Miguel Ángel, Domínguez-González, Cristina
Publicado 2021

Personalized in vitro Extracellular Matrix Models of Collagen VI-Related Muscular Dystrophies

por 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
Publicado 2022

The histone demethylase PHF8 is a molecular safeguard of the IFNγ response

por Asensio-Juan, Elena, Fueyo, Raquel, Pappa, Stella, Iacobucci, Simona, Badosa, Carmen, Lois, Sergi, Balada, Miriam, Bosch-Presegué, Laia, Vaquero, Alex, Gutiérrez, Sara, Caelles, Carme, Gallego, Carme, de la Cruz, Xavier, Martínez-Balbás, Marian A.
Publicado 2017

CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts

por López-Márquez, Arístides, Morín, Matías, Fernández-Peñalver, Sergio, Badosa, Carmen, Hernández-Delgado, Alejandro, Natera-de Benito, Daniel, Ortez, Carlos, Nascimento, Andrés, Grinberg, Daniel, Balcells, Susanna, Roldán, Mónica, Moreno-Pelayo, Miguel Ángel, Jiménez-Mallebrera, Cecilia
Publicado 2022

Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen

por Trifunov, Selena, Natera-de Benito, Daniel, Carrera-García, Laura, Codina, Anna, Expósito-Escudero, Jesica, Ortez, Carlos, Medina, Julita, Torres Alcala, Soraya, Bernal, Sara, Alias, Laura, Badosa, Carmen, Balsells, Sol, Alcolea, Daniel, Nascimento, Andres, Jimenez-Mallebrera, Cecilia
Publicado 2023

Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein

por Milev, Miroslav P., Stanga, Daniela, Schänzer, Anne, Nascimento, Andrés, Saint-Dic, Djenann, Ortez, Carlos, Benito, Daniel Natera-de, Barrios, Desiré González, Colomer, Jaume, Badosa, Carmen, Jou, Cristina, Gallano, Pia, Gonzalez-Quereda, Lidia, Töpf, Ana, Johnson, Katherine, Straub, Volker, Hahn, Andreas, Sacher, Michael, Jimenez-Mallebrera, Cecilia
Publicado 2019

Publisher Correction: Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein

por Milev, Miroslav P., Stanga, Daniela, Schänzer, Anne, Nascimento, Andrés, Saint-Dic, Djenann, Ortez, Carlos, Natera-de Benito, Daniel, Barrios, Desiré González, Colomer, Jaume, Badosa, Carmen, Jou, Cristina, Gallano, Pia, Gonzalez-Quereda, Lidia, Töpf, Ana, Johnson, Katherine, Straub, Volker, Hahn, Andreas, Sacher, Michael, Jimenez-Mallebrera, Cecilia
Publicado 2020

Pathological Features in Paediatric Patients with TK2 Deficiency

por Jou, Cristina, Nascimento, Andres, Codina, Anna, Montoya, Julio, López-Gallardo, Ester, Emperador, Sonia, Ruiz-Pesini, Eduardo, Montero, Raquel, Natera-de Benito, Daniel, Ortez, Carlos I., Marquez, Jesus, Zelaya, Maria V., Gutierrez-Mata, Alfonso, Badosa, Carmen, Carrera-García, Laura, Expósito-Escudero, Jesica, Roldán, Monica, Camara, Yolanda, Marti, Ramon, Ferrer, Isidre, Jimenez-Mallebrera, Cecilia, Artuch, Rafael
Publicado 2022

Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy

por Dominguez-Gonzalez, Cristina, Badosa, Carmen, Madruga-Garrido, Marcos, Martí, Itxaso, Paradas, Carmen, Ortez, Carlos, Diaz-Manera, Jordi, Berardo, Andres, Alonso-Pérez, Jorge, Trifunov, Selena, Cuadras, Daniel, Kalko, Susana G., Blázquez-Bermejo, Cora, Cámara, Yolanda, Martí, Ramon, Mavillard, Fabiola, Martin, Miguel A., Montoya, Julio, Ruiz-Pesini, Eduardo, Villarroya, Joan, Montero, Raquel, Villarroya, Francesc, Artuch, Rafael, Hirano, Michio, Nascimento, Andrés, Jimenez-Mallebrera, Cecilia
Publicado 2020