Rafael Díaz Belloso
A5020441259- RNA regulation and disease
- Parkinson's Disease Mechanisms and Treatments
- Nuclear Receptors and Signaling
- Neurological diseases and metabolism
- Advanced Glycation End Products research
- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Signaling Pathways in Disease
- Adenosine and Purinergic Signaling
- Neurogenesis and neuroplasticity mechanisms
- Neuroinflammation and Neurodegeneration Mechanisms
Universidad de Sevilla
2023-2024
Hospital Universitario Virgen del Rocío
2023-2024
Instituto de Biomedicina de Sevilla
2023-2024
Centro de Investigación Biomédica en Red
2024
Instituto de Salud Carlos III
2024
Biomedical Research Networking Center on Neurodegenerative Diseases
2024
Abstract Peripheral inflammatory immune responses are thought to play a major role in the pathogenesis of Parkinson’s disease (PD). The neutrophil-to-lymphocyte ratio (NLR), biomarker systemic inflammation, has been reported be higher patients with PD than healthy controls (HCs). present study was aimed at determining if peripheral response could influenced by genetic background PD. We included discovery cohort 222 (132 sporadic PD, 44 LRRK2 -associated (with p.G2019S and p.R1441G variants),...
Abstract We conducted the largest PSP GWAS of Iberian population to date (522 cases from 22 Spanish and Portuguese institutions). independently replicated seven known risk variants, unveiled a novel locus in NFASC/CNTN2 after meta-analysing our results with newly available Dutch cohort publicly summary statistics. These findings highlight importance neuron-oligodendrocyte interactions etiopathology.
Abstract Background and purpose Parkinson disease (PD) is a complex heterogeneous neurodegenerative disorder with broad spectrum of clinical manifestations, determined by interplay environmental genetic factors. This study aimed to investigate variants associated PD assess their impact on the phenotype through genotype–phenotype correlations. Methods We employed targeted resequencing panel analyze 27 genes linked in cohort 1185 patients from southern Spain. Variants were categorized based...