NAFLD and AATD Are Two Diseases with Unbalanced Lipid Metabolism: Similarities and Differences

por Perez-Luz, Sara, Matamala, Nerea, Gomez-Mariano, Gema, Janciauskiene, Sabina, Martínez-Delgado, Beatriz
Publicado 2023

Identification of Novel Short C-Terminal Transcripts of Human SERPINA1 Gene

por Matamala, Nerea, Aggarwal, Nupur, Iadarola, Paolo, Fumagalli, Marco, Gomez-Mariano, Gema, Lara, Beatriz, Martinez, Maria Teresa, Cuesta, Isabel, Stolk, Jan, Janciauskiene, Sabina, Martinez-Delgado, Beatriz
Publicado 2017

Loss of Serpina1 in Mice Leads to Altered Gene Expression in Inflammatory and Metabolic Pathways

por Meghadri, Sri Harsha, Martinez-Delgado, Beatriz, Ostermann, Lena, Gomez-Mariano, Gema, Perez-Luz, Sara, Tumpara, Srinu, Wrenger, Sabine, DeLuca, David S., Maus, Ulrich A., Welte, Tobias, Janciauskiene, Sabina
Publicado 2022

Acid Sphingomyelinase Deficiency Type B Patient-Derived Liver Organoids Reveals Altered Lysosomal Gene Expression and Lipid Homeostasis

por Gomez-Mariano, Gema, Perez-Luz, Sara, Ramos-Del Saz, Sheila, Matamala, Nerea, Hernandez-SanMiguel, Esther, Fernandez-Prieto, Marta, Gil-Martin, Sara, Justo, Iago, Marcacuzco, Alberto, Martinez-Delgado, Beatriz
Publicado 2023

The Delivery of α1-Antitrypsin Therapy Through Transepidermal Route: Worthwhile to Explore

por Tumpara, Srinu, Martinez-Delgado, Beatriz, Gomez-Mariano, Gema, Liu, Bin, DeLuca, David S., Korenbaum, Elena, Jonigk, Danny, Jugert, Frank, Wurm, Florian M., Wurm, Maria J., Welte, Tobias, Janciauskiene, Sabina
Publicado 2020

Liver organoids reproduce alpha-1 antitrypsin deficiency-related liver disease

por Gómez-Mariano, Gema, Matamala, Nerea, Martínez, Selene, Justo, Iago, Marcacuzco, Alberto, Jimenez, Carlos, Monzón, Sara, Cuesta, Isabel, Garfia, Cristina, Martínez, María Teresa, Huch, Meritxell, Pérez de Castro, Ignacio, Posada, Manuel, Janciauskiene, Sabina, Martínez-Delgado, Beatriz
Publicado 2019

Quantitative Lipid Profiling Reveals Major Differences between Liver Organoids with Normal Pi*M and Deficient Pi*Z Variants of Alpha-1-antitrypsin

por Pérez-Luz, Sara, Lalchandani, Jaanam, Matamala, Nerea, Barrero, Maria Jose, Gil-Martín, Sara, Saz, Sheila Ramos-Del, Varona, Sarai, Monzón, Sara, Cuesta, Isabel, Justo, Iago, Marcacuzco, Alberto, Hierro, Loreto, Garfia, Cristina, Gomez-Mariano, Gema, Janciauskiene, Sabina, Martínez-Delgado, Beatriz
Publicado 2023

Clinical Significance of SERPINA1 Gene and Its Encoded Alpha1-Antitrypsin Protein in NSCLC

por Ercetin, Evrim, Richtmann, Sarah, Martinez Delgado, Beatriz, Gomez-Mariano, Gema, Wrenger, Sabine, Korenbaum, Elena, Liu, Bin, DeLuca, David, Kühnel, Mark P., Jonigk, Danny, Yuskaeva, Kadriya, Warth, Arne, Muley, Thomas, Winter, Hauke, Meister, Michael, Welte, Tobias, Janciauskiene, Sabina, Schneider, Marc A.
Publicado 2019

Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder

por Baladron, Beatriz, Mielu, Lidia M., López-Martín, Estrella, Barrero, Maria J., Lopez, Lidia, Alvarado, Jose I., Monzón, Sara, Varona, Sarai, Cuesta, Isabel, Cazorla, Rosario, Lara, Julián, Iglesias, Gemma, Román, Enriqueta, Ros, Purificación, Gomez-Mariano, Gema, Cubillo, Isabel, Miguel, Esther Hernandez-San, Rivera, Daniel, Alonso, Javier, Bermejo-Sánchez, Eva, Posada, Manuel, Martínez-Delgado, Beatriz
Publicado 2022