Browsing by Author "5fce633f-f9ab-4faf-b33b-f593dc12d397"

Now showing items 1-5 of 5

    • Alteration of gene expression profile in niemann-pick type C mice correlates with tissue damage and oxidative ... 
      Vázquez, Mary C.; del Pozo, Talía; Robledo, Fermín; Carrasco, Gonzalo; Pavez, Leonardo; Olivares, Felipe; González, Mauricio; Zanlungo, Silvana (2011)
      Background: Niemann-Pick type C disease (NPC) is a neurovisceral lipid storage disorder mainly characterized by unesterified cholesterol accumulation in lysosomal/late endosomal compartments, although there is also an ...
    • Cholinergic abnormalities, endosomal alterations and up-regulation of nerve growth factor signaling in ... 
      Cabeza, Carolina; Figueroa, Alicia; Lazo, Oscar M.; Galleguillos, Carolina; Pissani, Claudia; Klein, Andrés; González Billault, Christian; Inestrosa, Nibaldo C.; Alvarez, Alejandra R.; Zanlungo, Silvana; Bronfman, Francisca (2012)
      Background: Neurotrophins and their receptors regulate several aspects of the developing and mature nervous system, including neuronal morphology and survival. Neurotrophin receptors are active in signaling endosomes, which ...
    • Lack of activation of the unfolded protein response in mouse and cellular models of Niemann-Pick type C disease 
      Klein, Andres; Mosqueira, Matías; Martínez, Gabriela; Robledo, Fermín; González, Marcela; Caballero, Benjamín; Cancino, Gonzalo I.; Alvarez, Alejandra R.; Hetz Flores, Claudio; Zanlungo, Silvana (2011)
      Background: Niemann-Pick type C (NPC) disease is a fatal lysosomal storage disease related to progressive neurodegeneration secondary to abnormal intracellular accumulation of cholesterol. Signs of endoplasmic reticulum ...
    • Oxidative stress activates the c-Abl/p73 proapoptotic pathway in Niemann-Pick type C neurons 
      Klein, Andres; Maldonado, Carola; Vargas, Lina M.; Gonzalez, Marcela; Robledo, Fermín; Perez de Arce, Karen; Muñoz, Francisco J.; Hetz Flores, Claudio; Alvarez, Alejandra R.; Zanlungo, Silvana (2011)
      Niemann-Pick type C (NPC) is a neurodegenerative disease characterized by the intralysosomal accumulation of cholesterol leading to neuronal apoptosis. We have previously reported the activation of the c-Abl/p73 proapoptotic ...
    • Structural and functional analysis of the ASM p.Ala359Asp mutant that causes acid sphingomyelinase deficiency 
      Acuña, Mariana; Castro Fernández, Víctor; Latorre Mora, Mauricio; Castro, Juan; Schuchman, Edward H.; Guixé Leguía, Victoria Cristina; González Canales, Mauricio; Zanlungo, Silvana (Elsevier, 2016)
      Niemann-Pick disease (NPD) type A and B are recessive hereditary disorders caused by deficiency in acid sphingomyelinase (ASM). The p.A1a359Asp mutation has been described in several patients but its functional and structural ...