Manuel Ramirez-Restrepo

TL;DR: An experimental strategy that allows for a detailed examination of the variability of the quantitative LC-MS proteomics measurements is presented and the stability of the platform and its suitability for discovery proteomics studies is demonstrated.

TL;DR: Analysis of a consanguineous family segregating autosomal recessive behavioral variant FTLD from Antioquia, Colombia suggests that a mutational burden in TREM2 may serve as a risk factor for neurodegenerative disease in general, and that potentially this class of T REM2 variant carriers with dementia should be considered as having a molecularly distinct form of neurodegenersative disease.

TL;DR: It is found that coding variability may explain the ABCA7 association, but common coding variability does not explain any of the other loci, and the regional expression of each of the loci did not match the pattern of brain regional distribution in Alzheimer pathology.

TL;DR: By integrating genome, transcriptome and proteome data, Petyuk et al. identify HSPA2 as a driver of pathology in Alzheimer’s disease, replicating the finding in an independent cohort and validating it in two in vitro systems.

TL;DR: In this article, the authors used a set-cover approach to capture fluctuations of gene expression of PTSD or depression-converting patients and nonconverting trauma-exposed controls to find representative sets of disease-relevant dysregulated genes.