A5013179031- Endoplasmic Reticulum Stress and Disease
- Autophagy in Disease and Therapy
- Prion Diseases and Protein Misfolding
- Amyotrophic Lateral Sclerosis Research
- RNA regulation and disease
- Pancreatic function and diabetes
- Genetic Neurodegenerative Diseases
- Parkinson's Disease Mechanisms and Treatments
- Genetics, Aging, and Longevity in Model Organisms
- Cell death mechanisms and regulation
- Alzheimer's disease research and treatments
- Mitochondrial Function and Pathology
- Nerve injury and regeneration
- Trace Elements in Health
- Neurological diseases and metabolism
- Cellular transport and secretion
- Heat shock proteins research
- Neurogenetic and Muscular Disorders Research
- Nuclear Receptors and Signaling
- Lysosomal Storage Disorders Research
- Sirtuins and Resveratrol in Medicine
- Liver Disease Diagnosis and Treatment
- Adipose Tissue and Metabolism
- Transgenic Plants and Applications
- Calcium signaling and nucleotide metabolism
University of Chile
2016-2025
Buck Institute for Research on Aging
2016-2025
Center for Climate and Resilience Research
2016-2025
Fondation FondaMental
2024
Instituto de Neurociencia Biomédica
2003-2023
Creative Commons
2022-2023
Fundación Juan March
2023
Christie's
2022
Universidad Bernardo O'Higgins
2015-2021
Universidad Mayor
2016-2021
Mitochondrial permeability transition (PT) is a phenomenon induced by high levels of matrix calcium and characterized the opening PT pore (PTP). Activation PTP results in loss mitochondrial membrane potential, expansion matrix, rupture outer membrane. Consequently, has been implicated both apoptotic necrotic cell death. Cyclophilin D (CypD) appears to be critical component PTP. To investigate role CypD death, we created CypD-deficient mouse. In vitro, mitochondria showed an increased...
Accumulation of misfolded protein in the endoplasmic reticulum (ER) triggers an adaptive stress response—termed unfolded response (UPR)—mediated by ER transmembrane kinase and endoribonuclease inositol-requiring enzyme–1α (IRE1α). We investigated UPR signaling events mice absence proapoptotic BCL-2 family members BAX BAK [double knockout (DKO)]. DKO responded abnormally to tunicamycin-induced liver, with extensive tissue damage decreased expression IRE1 substrate X-box–binding 1 its target...
Mutations in superoxide dismutase-1 (SOD1) cause familial amyotrophic lateral sclerosis (fALS). Recent evidence implicates adaptive responses to endoplasmic reticulum (ER) stress the disease process via a pathway known as unfolded protein response (UPR). Here, we investigated contribution fALS of X-box-binding protein-1 (XBP-1), key UPR transcription factor that regulates genes involved folding and quality control. Despite expectations XBP-1 deficiency would enhance pathogenesis mutant SOD1,...
Article15 October 2003free access Caspase-12 and endoplasmic reticulum stress mediate neurotoxicity of pathological prion protein Claudio Hetz Serono Pharmaceutical Research Institute, 14 Chemin des Aulx, 1228 Plan les Ouates, Switzerland Instituto de Ciencias Biomédicas, Universidad Chile, Santiago, Chile Search for more papers by this author Milene Russelakis-Carneiro Kinsey Maundrell Joaquin Castilla Department Neurology, University Texas Medical Branch, Galveston, Texas, TX, USA Soto...
Amyotrophic lateral sclerosis (ALS) is a fatal motoneuron disease with no current effective treatment. Accumulation of abnormal protein inclusions containing SOD1, TARDBP, FUS, among other proteins, pathological hallmark ALS. Autophagy the major degradation pathway involved in clearance damaged organelles and aggregates. Although autophagy has been shown to efficiently degrade ALS-linked mutant cell culture models, several studies suggest that impairment may also contribute pathogenesis. In...
Mutations leading to expansion of a poly-glutamine track in Huntingtin (Htt) cause Huntington's disease (HD). Signs endoplasmic reticulum (ER) stress have been recently reported animal models HD, associated with the activation unfolded protein response (UPR). Here we investigated functional contribution ER HD by targeting expression two main UPR transcription factors, XBP1 and ATF4 (activating factor 4), full-length mutant (mHtt) transgenic mice. XBP1-deficient mice were more resistant...