Clara Ruz

TL;DR: These data provide the most comprehensive survey of genetic risk within Parkinson's disease to date, providing a biological context for these risk factors, and showing that a considerable genetic component of this disease remains unidentified.

TL;DR: In this paper, the authors used the bioinformatic tools Coloc and transcriptome-wide association study (TWAS) to integrate PD case-control GWAS data published in 2017 with expression data (from Braineac, the Genotype-Tissue Expression [GTEx], and CommonMind) and methylation data (derived from UK Parkinson brain samples) to uncover putative gene expression and splicing mechanisms associated with PD GWAS signals.

TL;DR: The Iberian Peninsula stands out as having variable levels of population admixture and isolation, making Spain an interesting setting for studying the genetic architecture of neurodegenerative diseases.

TL;DR: This review summarizes the current state on key processes that lead to cellular proteotoxicity in Alzheimer's disease, Parkinson’s disease, Huntington’S disease, and amyotrophic lateral sclerosis, providing a comprehensive landscape of recent literature.

TL;DR: The present review aims to provide an overview of the structural genomic variants implicated in the pathogenesis of PD and suggests that structural genomic variations might substantially account for such genetic substrates yet to be discovered.