Publications by authors named "Magdalena Arnal Segura"
Article Synopsis
- Biological condensates are unique membraneless organelles primarily made of proteins and RNAs, with many of their interactions still not fully understood.
- PRALINE is a new database designed to help researchers explore the interactions of proteins and RNAs found in stress granules, processing bodies, and other similar structures, offering insights into their phase separation and structural properties.
- The database also includes valuable information on human genetic variants and their potential impact on the physical characteristics of these biological condensates, and is available for free online.
Introduction: Genome-wide association studies (GWAS) in late onset Alzheimer's disease (LOAD) provide lists of individual genetic determinants. However, GWAS do not capture the synergistic effects among multiple genetic variants and lack good specificity.
Methods: We applied tree-based machine learning algorithms (MLs) to discriminate LOAD (>700 individuals) and age-matched unaffected subjects in UK Biobank with single nucleotide variants (SNVs) from Alzheimer's disease (AD) studies, obtaining specific genomic profiles with the prioritized SNVs.
Background: Multiple system atrophy (MSA) is a rare oligodendroglial synucleinopathy of unknown etiopathogenesis including two major clinical variants with predominant parkinsonism (MSA-P) or cerebellar dysfunction (MSA-C).
Objective: To identify novel disease mechanisms we performed a blood transcriptomic study investigating differential gene expression changes and biological process alterations in MSA and its clinical subtypes.
Methods: We compared the transcriptome from rigorously gender and age-balanced groups of 10 probable MSA-P, 10 probable MSA-C cases, 10 controls from the Catalan MSA Registry (CMSAR), and 10 Parkinson Disease (PD) patients.