A5059882909- ATP Synthase and ATPases Research
- Mitochondrial Function and Pathology
- Metabolism and Genetic Disorders
- Lysosomal Storage Disorders Research
- Neurological diseases and metabolism
- Neuroscience of respiration and sleep
- Genomics and Phylogenetic Studies
- Genomics and Rare Diseases
- Cellular transport and secretion
- RNA regulation and disease
- Cancer Genomics and Diagnostics
- RNA modifications and cancer
- Heart Rate Variability and Autonomic Control
- Chronic Obstructive Pulmonary Disease (COPD) Research
- Parkinson's Disease Mechanisms and Treatments
- Adipose Tissue and Metabolism
Institut d'Investigació Biomédica de Bellvitge
2024
Institut Català d'Oncologia
2024
Centro de Investigación Biomédica en Red de Cáncer
2024
Instituto de Salud Carlos III
2024
Universitat Autònoma de Barcelona
2016-2020
Hospital Universitari Germans Trias i Pujol
2016
Mitochondrial deficits in energy production cause untreatable and fatal pathologies known as mitochondrial disease (MD). Central nervous system affectation is critical Leigh Syndrome (LS), a common MD presentation, leading to motor respiratory deficits, seizures premature death. However, only specific neuronal populations are affected. Furthermore, their molecular identity contribution the remains unknown. Here, using mouse model of LS lacking complex I subunit Ndufs4, we dissect role...
Background Parkinson's disease (PD) and dementia with Lewy bodies (DLB) are body diseases characterized by similar pathological features. Several studies have shown a relation between alterations in the glucocerebrosidase gene (GBA) development of LB diseases. Here, we explored role GBA mutations Spanish DLB patients. Methods mRNA sequences were analyzed neuropathological (50 DLB, 43 PD, 34 control brains) clinical cohort (47 patients 131 unaffected individuals). Results Sixteen mutation...
Respiratory dysfunction is among the main cause of severe and fatal pathologies worldwide. The use effective experimental models methodologies for study pulmonary pathophysiology necessary to prevent, control cure these diseases. Plethysmography, a technique assessment lung function, has been widely applied in mice characterization respiratory physiology. However, classical plethysmography methods present technical limitations such as anesthesia animal immobilization. Whole-body (WBP) avoids...
Defects in mitochondrial function lead to severe neuromuscular orphan pathologies known as disease. Among them, Leigh Syndrome is the most common pediatric presentation, characterized by symmetrical brain lesions, hypotonia, motor and respiratory deficits, premature death. Mitochondrial diseases are a marked anatomical cellular specificity. However, molecular determinants for this susceptibility currently unknown, hindering efforts find an effective treatment. Due complex crosstalk between...
Accurate classification of genetic variants is crucial for clinical decision-making in hereditary cancer. In Spain, diagnostic laboratories have traditionally approached this task independently due to the lack a dedicated resource. Here we present SpadaHC, web-based database sharing cancer genes Spanish population. SpadaHC implemented using three-tier architecture consisting relational database, web tool and bioinformatics pipeline. Contributing can share variant classifications from...
Abstract Defects in mitochondrial function lead to severe neuromuscular orphan pathologies known as disease. Among them, Leigh Syndrome is the most common pediatric presentation, characterized by symmetrical brain lesions, hypotonia, motor and respiratory deficits, premature death. Mitochondrial diseases are a marked anatomical cellular specificity. However, molecular determinants for this susceptibility currently unknown, hindering efforts find an effective treatment. Due complex crosstalk...
Abstract Dysfunctions of the mitochondrial energy-generating machinery cause a series progressive, untreatable and usually fatal diseases collectively known as disease. High energy-requiring organs such brain are especially affected, leading to developmental delay, ataxia, respiratory failure, hypotonia, seizures premature death. While neural affectation is critical component pathology, only discrete neuronal populations susceptible. However, their molecular identity contribution disease...