A5033035018- Genomics and Rare Diseases
- Mitochondrial Function and Pathology
- RNA and protein synthesis mechanisms
- Neurological diseases and metabolism
- Genetic Neurodegenerative Diseases
- RNA Research and Splicing
- Neurogenetic and Muscular Disorders Research
- Genetics and Neurodevelopmental Disorders
- Cellular Mechanics and Interactions
- Autophagy in Disease and Therapy
- Genomic variations and chromosomal abnormalities
- RNA modifications and cancer
- 3D Printing in Biomedical Research
- Cardiomyopathy and Myosin Studies
- Hereditary Neurological Disorders
- Mental Health and Patient Involvement
- Cancer Cells and Metastasis
- Muscle Physiology and Disorders
- Cellular transport and secretion
- Fungal Infections and Studies
- Wnt/β-catenin signaling in development and cancer
- Toxoplasma gondii Research Studies
- Angiogenesis and VEGF in Cancer
- Retinoids in leukemia and cellular processes
- Mental Health and Psychiatry
Centre for Biomedical Network Research on Rare Diseases
2022-2025
Center for Genomic Science
2024
Institut de Recerca Sant Joan de Déu
2019-2023
Universitat de Lleida
2015-2023
Biomedical Research Institute of Lleida
2015-2023
Instituto de Salud Carlos III
2022-2023
Hospital Sant Joan de Déu Barcelona
2019-2023
Centro de Investigación Biomédica en Red
2022-2023
Université Toulouse - Jean Jaurès
2014
Cell migration is a key procedure involved in many biological processes including embryological development, tissue formation, immune defense or inflammation, and cancer progression. How physical, chemical, molecular aspects can affect cell motility challenge to understand migratory cells behavior. In vitro assays are excellent approaches extrapolate vivo situations study live Here we present four protocols that describe step-by-step migration, invasion adhesion strategies their...
Mitochondrial network is constantly in a dynamic and regulated balance of fusion fission processes, which known as mitochondrial dynamics. Mitochondria make physical contacts with almost every other membrane the cell thus impacting cellular functions. Mutations dynamics genes are to cause neurogenetic diseases. To better understand consequences on phenotype pathophysiology diseases associated defective dynamics, we have compared fibroblasts phenotypes (i) patients carrying pathogenic...
Summary Melanoma is a malignant tumor derived from melanocytes. Once disseminated, it usually highly resistant to chemotherapy and associated with poor prognosis. We have recently reported that T‐type calcium channels ( TTCC s) are overexpressed in melanoma cells play an important role progression. Importantly, pharmacological blockers reduce proliferation deregulate autophagy leading apoptosis. Here, we analyze the of during migration/invasion cells. Cav3.1 LC 3‐ II proteins expressed BRAFV...
Uterine serous carcinoma (USC) is an aggressive form of endometrial cancer (EC), characterized by its high propensity for metastases. In fact, while endometrioid (EEC), which accounts 85% EC, presents a good prognosis, USC the most frequently fatal. Herein, we used first time peptide‐based tyrosine‐kinase‐activity profiling approach to quantify changes in tyrosine kinase activation between and EEC. Among kinases highly activated USC, identified focal adhesion (FAK). We conducted mechanistic...
Fe-S cluster biogenesis machinery is required for multiple DNA metabolism processes. In this work, we show that, in Saccharomyces cerevisiae, defects at different stages of the mitochondrial assembly (ISC) result increased spontaneous mutation rate and hyper-recombination, accompanied by an increment Rad52-associated repair foci a higher phosphorylated state γH2A histone, altogether supporting presence constitutive lesions. Furthermore, ISC deficiency elicits damage response that upregulates...
Abstract Autism spectrum disorder (ASD) is a neurodevelopmental disability with high heritability yet the genetic etiology remains elusive. Therefore, it necessary to elucidate new genotype–phenotype relationships for ASD improve both etiological knowledge and diagnosis. In this work, copy‐number variant whole‐exome sequencing analysis were performed in an patient complex neurobehavioral phenotype epilepsy attention deficit hyperactivity disorder. We identified rare recessive single...
Cth2 is an mRNA-binding protein that participates in remodeling yeast cell metabolism iron starvation conditions by promoting decay of the targeted molecules, order to avoid excess consumption. This study shows absence immediate upregulation expression several regulon genes (involved high affinity uptake and intracellular redistribution) upon oxidative stress hydroperoxide more intense than wild type where present. The provokes a temporary increase levels (itself member regulon). In such...
Summary Sofosbuvir and Daclatasvir are among the direct‐acting antiviral (DAA) medications prescribed for treatment of chronic hepatitis C (CHC) virus infection as combination therapy with other medications. DAA‐based achieves high cure rates, reaching up to 97% depending on genotype causative (HCV). While DAAs have been approved an efficient well‐tolerated CHC, emerging concerns about adverse cardiac side effects, higher risk recurrence occurrence hepatocellular carcinoma (HCC) doubts...
Abstract Rare diseases are life-threatening or chronically debilitating conditions affecting millions of people worldwide. In many instances, the patients experience a delay in their diagnosis remain undiagnosed despite extensive investigations carried out by specialists. There several explanations to account for this phenomenon including socioeconomic context and lack an established consensus diagnostic testing. Nonetheless, widespread use genetic genomic tests past decades has had major...
<title>Abstract</title> Pathogenic variants of GDAP1 cause Charcot-Marie-Tooth disease (CMT), an inherited neuropathy characterized by axonal degeneration. GDAP1, atypical glutathione S-transferase, localizes to the outer mitochondrial membrane (OMM), regulating this organelle's dynamics, transport, and contact sites (MCSs). It has been proposed that functions as a cellular redox sensor. However, its precise contribution homeostasis remains poorly understood, does possible regulation at...