Glucocerebrosidase mutations disrupt the lysosome and now the mitochondria

por Klein, Andrés D., Outeiro, Tiago Fleming
Publicado 2023

Controversies on the potential therapeutic use of rapamycin for treating a lysosomal cholesterol storage disease

por Calderón, Juan F., Klein, Andrés D.
Publicado 2018

Complement is dispensable for neurodegeneration in Niemann-Pick disease type C

por Lopez, Manuel E, Klein, Andres D, Scott, Matthew P
Publicado 2012

Gadolinium Chloride Rescues Niemann–Pick Type C Liver Damage

por Klein, Andrés D., Oyarzún, Juan Esteban, Cortez, Cristian, Zanlungo, Silvana
Publicado 2018

Complement Component C3 Participates in Early Stages of Niemann–Pick C Mouse Liver Damage

por Klein, Andrés D., González de la Vega, Javier, Zanlungo, Silvana
Publicado 2020

Neuronal and epithelial cell rescue resolves chronic systemic inflammation in the lipid storage disorder Niemann-Pick C

por Lopez, Manuel E., Klein, Andrés D., Hong, Jennifer, Dimbil, Ubah J., Scott, Matthew P.
Publicado 2012

Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine

por Las Heras, Macarena, Szenfeld, Benjamín, Ballout, Rami A., Buratti, Emanuele, Zanlungo, Silvana, Dardis, Andrea, Klein, Andrés D.
Publicado 2023

Genetic Background Matters: Population-Based Studies in Model Organisms for Translational Research

por Olguín, Valeria, Durán, Anyelo, Las Heras, Macarena, Rubilar, Juan Carlos, Cubillos, Francisco A., Olguín, Patricio, Klein, Andrés D.
Publicado 2022

Rare diseases in Chile: challenges and recommendations in universal health coverage context

por Encina, Gonzalo, Castillo-Laborde, Carla, Lecaros, Juan A., Dubois-Camacho, Karen, Calderón, Juan F., Aguilera, Ximena, Klein, Andrés D., Repetto, Gabriela M.
Publicado 2019

A Mouse Systems Genetics Approach Reveals Common and Uncommon Genetic Modifiers of Hepatic Lysosomal Enzyme Activities and Glycosphingolipids

por Durán, Anyelo, Priestman, David A., Las Heras, Macarena, Rebolledo-Jaramillo, Boris, Olguín, Valeria, Calderón, Juan F., Zanlungo, Silvana, Gutiérrez, Jaime, Platt, Frances M., Klein, Andrés D.
Publicado 2023

Identification of genetic modifiers of murine hepatic β-glucocerebrosidase activity

por Durán, Anyelo, Rebolledo-Jaramillo, Boris, Olguin, Valeria, Rojas-Herrera, Marcelo, Las Heras, Macarena, Calderón, Juan F., Zanlungo, Silvana, Priestman, David A., Platt, Frances M., Klein, Andrés D.
Publicado 2021

Proteomic Analysis of Niemann-Pick Type C Hepatocytes Reveals Potential Therapeutic Targets for Liver Damage

por Balboa, Elisa, Marín, Tamara, Oyarzún, Juan Esteban, Contreras, Pablo S., Hardt, Robert, van den Bosch, Thea, Alvarez, Alejandra R., Rebolledo-Jaramillo, Boris, Klein, Andres D., Winter, Dominic, Zanlungo, Silvana
Publicado 2021

Disruption in Connexin-Based Communication Is Associated with Intracellular Ca(2+) Signal Alterations in Astrocytes from Niemann-Pick Type C Mice

por Sáez, Pablo J., Orellana, Juan A., Vega-Riveros, Natalia, Figueroa, Vania A., Hernández, Diego E., Castro, Juan F., Klein, Andrés D., Jiang, Jean X., Zanlungo, Silvana, Sáez, Juan C.
Publicado 2013

Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy

por Mosbech, Mai-Britt, Olsen, Anne S B, Neess, Ditte, Ben-David, Oshrit, Klitten, Laura L, Larsen, Jan, Sabers, Anne, Vissing, John, Nielsen, Jørgen E, Hasholt, Lis, Klein, Andres D, Tsoory, Michael M, Hjalgrim, Helle, Tommerup, Niels, Futerman, Anthony H, Møller, Rikke S, Færgeman, Nils J
Publicado 2014

Integrin Alpha E (CD103) Limits Virus-Induced IFN-I Production in Conventional Dendritic Cells

por Duhan, Vikas, Khairnar, Vishal, Kitanovski, Simo, Hamdan, Thamer A., Klein, Andrés D., Lang, Judith, Ali, Murtaza, Adomati, Tom, Bhat, Hilal, Friedrich, Sarah-Kim, Li, Fanghui, Krebs, Philippe, Futerman, Anthony H., Addo, Marylyn M., Hardt, Cornelia, Hoffmann, Daniel, Lang, Philipp A., Lang, Karl S.
Publicado 2021

c-Abl Inhibition Activates TFEB and Promotes Cellular Clearance in a Lysosomal Disorder

por Contreras, Pablo S., Tapia, Pablo J., González-Hódar, Lila, Peluso, Ivana, Soldati, Chiara, Napolitano, Gennaro, Matarese, Maria, Heras, Macarena Las, Valls, Cristian, Martinez, Alexis, Balboa, Elisa, Castro, Juan, Leal, Nancy, Platt, Frances M., Sobota, Andrzej, Winter, Dominic, Klein, Andrés D., Medina, Diego L., Ballabio, Andrea, Alvarez, Alejandra R., Zanlungo, Silvana
Publicado 2020