Browsing by Author "Andreu, Catherine"
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Item ALS-linked protein disulfide isomerase variants cause motor dysfunction(European Molecular Biology Organization by IRL Press, 2016) Woehlbier, Ute; Colombo, Alicia; Saaranen, Mirva; Pérez, Viviana; Ojeda, Jorge; Bustos, Fernando; Andreu, Catherine; Torres, mauricio; Valenzuela, Vicente; Medinas, Danilo; Rozas, Pablo; Vidal, René; López-González, Rodrigo; Salameh, Johnny; Fernández-Collemann, Sara; Muñoz, Natalia; Matus, Soledad; Armisén, Ricardo; Sagredo, Alfredo; Palma, Karina; Irrazabal, Thergiory; Almeida, Sandra; González-Pérez, Paloma; Campero, MarioDisturbance of endoplasmic reticulum (ER) proteostasis is a common feature of amyotrophic lateral sclerosis (ALS). Protein disulfide isomerases (PDIs) areERfoldases identified as possibleALSbiomarkers, as well as neuroprotective factors. However, no functional studies have addressed their impact on the disease process. Here, we functionally characterized fourALS-linked mutations recently identified in two majorPDIgenes,PDIA1 andPDIA3/ERp57. Phenotypic screening in zebrafish revealed that the expression of thesePDIvariants induce motor defects associated with a disruption of motoneuron connectivity. Similarly, the expression of mutantPDIs impaired dendritic outgrowth in motoneuron cell culture models. Cellular and biochemical studies identified distinct molecular defects underlying the pathogenicity of thesePDImutants. Finally, targetingERp57 in the nervous system led to severe motor dysfunction in mice associated with a loss of neuromuscular synapses. This study identifiesERproteostasis imbalance as a risk factor forALS, driving initial stages of the disease.Item Assessing Subjective Processes and Vulnerability in Mindfulness-based Interventions: A Mixed methods Exploratory Study(2021) Medeiros, Sebastián; Crempien, Carla; Vásquez, Alejandra; Duarte, Javiera; Andreu, Catherine; Langer, Álvaro; Ibaceta, Miguel; Silva, Jaime; Cosmelli, DiegoContext: Research in the contemplative field has focused on trainable capacities that foster self-regulation and integration. From a psychological perspective, mindfulness and personality research has largely grown with a categorical approach that explores the relationship between personality traits and mindfulness skills in clinical contexts. Problem: There is still a gap in our understanding of the subjective processes that occur through contemplative learning. Moreover, a dimensional personality approach that acknowledges personality functioning and individual vulnerability has not formed part of the discussion in the field. Method: We used a mixed methods framework to explore change and learning mechanisms among six participants in an eight-week mindfulness-based intervention. Pre- and post-intervention measurements were registered, including a micro-phenomenological interview (MPI) to explore first-person experience in dealing with difficulty, self-reported personality functioning, symptoms, and mindfulness skills, and heart rate variability, to relate self-reporting and phenomenological accounts. Results: Multiple levels of observation seem to be sensitive to capturing change and processes occurring in mindfulness-based interventions. The MPI analysis points to greater awareness and embodied care as central mechanisms. Personality functioning correlates with autonomic activity during critical phases of the MPI. Conceptual and experiential understanding of new forms of relating to experience are exemplified through a case study. Implications: This exploratory study contributes to scientific and clinical understanding of healing mechanisms of mindfulness practice. Taking vulnerability into account can help refine therapeutic strategies and clinical sensitivity. The results support more skillful ways of guiding and inquiring in mindfulness practices. Future research should explore subtler levels of experiential and physiological regulatory processes using larger samples, particularly with participants who experience difficulties during practice. Constructivist content: This work contributes to the development of Francisco Varela’s neurophenomenology project and his scientific interest in contemplative practices as tools for the study of consciousness.