Glucocerebrosidase mutations disrupt the lysosome and now the mitochondria by Andrés D. Klein, Tiago Fleming Outeiro

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Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine by Macarena Las Heras, Benjamín Szenfeld, Rami A. Ballout, Emanuele Buratti, Silvana Zanlungo, Andrea Dardis, Andrés D. Klein

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Genetic Background Matters: Population-Based Studies in Model Organisms for Translational Research by Valeria Olguín, Anyelo Durán, Macarena Las Heras, Juan Carlos Rubilar, Francisco A. Cubillos, Patricio Olguín, Andrés D. Klein

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Rare diseases in Chile: challenges and recommendations in universal health coverage context by Gonzalo Encina, Carla Castillo-Laborde, Juan A. Lecaros, Karen Dubois-Camacho, Juan F. Calderón, Ximena Aguilera, Andrés D. Klein, Gabriela M. Repetto

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Identification of Modifier Genes in a Mouse Model of Gaucher Disease by Andrés D. Klein, Natalia-Santos Ferreira, Shifra Ben-Dor, Jingjing Duan, John Hardy, Timothy M. Cox, Alfred H. Merrill Jr., Anthony H. Futerman

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A Mouse Systems Genetics Approach Reveals Common and Uncommon Genetic Modifiers of Hepatic Lysosomal Enzyme Activities and Glycosphingolipids by Anyelo Durán, David A. Priestman, Macarena Las Heras, Boris Rebolledo-Jaramillo, Valeria Olguín, Juan F. Calderón, Silvana Zanlungo, Jaime Gutiérrez, Frances M. Platt, Andrés D. Klein

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Identification of genetic modifiers of murine hepatic β-glucocerebrosidase activity by Anyelo Durán, Boris Rebolledo-Jaramillo, Valeria Olguin, Marcelo Rojas-Herrera, Macarena Las Heras, Juan F. Calderón, Silvana Zanlungo, David A. Priestman, Frances M. Platt, Andrés D. Klein

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Proteomic Analysis of Niemann-Pick Type C Hepatocytes Reveals Potential Therapeutic Targets for Liver Damage by Elisa Balboa, Tamara Marín, Juan Esteban Oyarzún, Pablo S. Contreras, Robert Hardt, Thea van den Bosch, Alejandra R. Alvarez, Boris Rebolledo-Jaramillo, Andres D. Klein, Dominic Winter, Silvana Zanlungo

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Integrin Alpha E (CD103) Limits Virus-Induced IFN-I Production in Conventional Dendritic Cells by Vikas Duhan, Vikas Duhan, Vishal Khairnar, Vishal Khairnar, Simo Kitanovski, Thamer A. Hamdan, Thamer A. Hamdan, Andrés D. Klein, Andrés D. Klein, Judith Lang, Murtaza Ali, Tom Adomati, Hilal Bhat, Hilal Bhat, Sarah-Kim Friedrich, Fanghui Li, Philippe Krebs, Anthony H. Futerman, Marylyn M. Addo, Marylyn M. Addo, Marylyn M. Addo, Cornelia Hardt, Daniel Hoffmann, Philipp A. Lang, Karl S. Lang

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Disruption in connexin-based communication is associated with intracellular Ca²⁺ signal alterations in astrocytes from Niemann-Pick type C mice. by Pablo J Sáez, Juan A Orellana, Natalia Vega-Riveros, Vania A Figueroa, Diego E Hernández, Juan F Castro, Andrés D Klein, Jean X Jiang, Silvana Zanlungo, Juan C Sáez

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c-Abl Inhibition Activates TFEB and Promotes Cellular Clearance in a Lysosomal Disorder by Pablo S. Contreras, Pablo J. Tapia, Lila González-Hódar, Ivana Peluso, Chiara Soldati, Gennaro Napolitano, Maria Matarese, Macarena Las Heras, Cristian Valls, Alexis Martinez, Elisa Balboa, Juan Castro, Nancy Leal, Frances M. Platt, Andrzej Sobota, Dominic Winter, Andrés D. Klein, Diego L. Medina, Andrea Ballabio, Alejandra R. Alvarez, Silvana Zanlungo

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