A5020735911- Parkinson's Disease Mechanisms and Treatments
- Neurological disorders and treatments
- Amyotrophic Lateral Sclerosis Research
- Genetics and Neurodevelopmental Disorders
- Alzheimer's disease research and treatments
- Neurogenetic and Muscular Disorders Research
- Autism Spectrum Disorder Research
- Lysosomal Storage Disorders Research
- Neurological diseases and metabolism
- Genetic Neurodegenerative Diseases
- Cellular transport and secretion
- Heat shock proteins research
- Parkinson's Disease and Spinal Disorders
- Genetic Associations and Epidemiology
- Mitochondrial Function and Pathology
- Nuclear Receptors and Signaling
- Cerebrovascular and genetic disorders
- RNA regulation and disease
- Congenital heart defects research
- CRISPR and Genetic Engineering
- Genomics and Rare Diseases
- Nutrition, Genetics, and Disease
- Carbohydrate Chemistry and Synthesis
Hospital Universitario San Ignacio
2016-2025
Université Laval
2024-2025
Pontificia Universidad Javeriana
2016-2024
Fundación Universitaria Sanitas
2020-2023
Consorci Institut D'Investigacions Biomediques August Pi I Sunyer
2016-2021
Universitat de Barcelona
2016-2021
Centro de Investigación Biomédica en Red
2021
Hospital Clínic de Barcelona
2018-2019
Hospital de Sant Pau
2017
Universitat Autònoma de Barcelona
2017
Parkinson's disease (PD) is a global health challenge, yet historically studies of PD have taken place predominantly in European populations. Recent genetics research conducted non-European populations has revealed novel population-specific genetic loci linked to risk, highlighting the importance studying globally. These insights broadened our understanding etiology, which crucial for developing disease-modifying interventions. This review comprehensively explores landscape PD, emphasizing...
Lewy body disorders (LBD) are common neurodegenerative diseases characterized by the presence of aggregated α-synuclein in bodies and neurites central peripheral nervous systems. The brains patients with LBD often display other comorbid pathologies, i.e. insoluble tau, β-amyloid aggregates, TAR DNA-binding protein 43 (TDP-43) deposits, argyrophilic grain disease (AGD). incidence physiological relevance these concurrent pathological findings remain controversial. We performed a...
Abstract Background Perry syndrome (PS) is a rare and fatal hereditary autosomal dominant neurodegenerative disorder caused by mutations in dynactin ( DCTN1 ). PS brains accumulate inclusions positive for ubiquitin, transactive‐response DNA‐binding protein of 43 kDa (TDP‐43), to lesser extent dynactin. Objectives Little known regarding the contributions TDP‐43, an RNA binding that represses cryptic exon inclusion, PS. Therefore, we sought identify degree TDP‐43 dysfunction two regions...
Single nucleotide polymorphisms (SNPs) in the α-synuclein (SNCA) gene are associated with differential risk and age at onset (AAO) of both idiopathic Leucine-rich repeat kinase 2 (LRRK2)-associated Parkinson's disease (PD). Yet potential combinatory or synergistic effects among several modulatory SNPs for PD AAO remain largely underexplored.The mechanistic target rapamycin (mTOR) signaling pathway is functionally impaired PD. Here we explored whether mTOR pathway, alone by epistatic...
Abstract Multiple scientific studies, mostly performed within European populations, have unraveled many of the genetic factors associated with Alzheimer’s disease (AD) and Parkinson’s (PD) etiologies, improving our understanding molecular pathways implicated in pathogenesis these conditions. However, there is increasing evidence that architecture diseases differs across ancestral populations. This raises concerns about efficacy therapeutic interventions crafted around targets prevalent only...
There is now compelling evidence for the presence of pathological forms Tau in tissues both patients and animal models Huntington's disease (HD). While root cause this illness a mutation within huntingtin gene, number studies suggest that HD could also be considered secondary tauopathy. However, contributory role pathogenesis pathophysiology condition, as well its implications cellular toxicity consequent behavioral impairments are largely unknown. We therefore performed intracerebral...