Giulio Deangeli

Abstract P11: TEX264 DRIVES SELECTIVE AUTOPHAGY OF DNA LESIONS TO PROMOTE DNA REPAIR AND CELL SURVIVAL

Pauline Lascaux, Sara Tribble, Ivan Antičević, Cécile Otten et autres

Abstract DNA repair and autophagy are distinct biological processes vital for cell survival. Although autophagy helps maintain genome stability, there is no evidence of its direct role in the repair of DNA lesions. We discovered that lysosomes process Topoisomerase 1-cleavage complexes (TOP1cc) …

gb, hr, us, sg (code pays fourni par la source)

Vitras, Proteomizer, GhostBuster - A journey from Wet Lab to Machine Learning and back, pursuing Parkinson’s Disease

Giulio Deangeli

This project is highly cross-disciplinary, as it aims at bridging the divide between wet-lab-based molecular biology and pure computer science, with Parkinson’s Disease (PD) serving as the common scientific driving question. Growing evidence has shown that ~60% PD patients first develop alpha-synuclein …

GhostBuster: A Deep-Learning-based, Literature-Unbiased Gene Prioritization Tool for Gene Annotation Prediction

Giulio Deangeli, Maria Grazia Spillantini, Píetro Lió

Abstract All genes are not equal before literature. Despite the explosion of genomic data, a significant proportion of human protein-coding genes remain poorly characterized (“ghost genes”). Due to sociological dynamics in research, scientific literature disproportionately focuses on already well-annotated genes, reinforcing existing …

gb (code pays fourni par la source)

Proteomizer: Leveraging the Transcriptome-Proteome Mismatch to Infer Novel Gene Regulatory Relations

Giulio Deangeli, Maria Grazia Spillantini, Píetro Lió

Abstract The correlation between transcriptomic (Tx) and proteomic (Px) profiles remains modest, typically around r = 0.5 across genes and r = 0.3 across samples, limiting the utility of transcriptomic data as a proxy for protein abundance. To address this, we introduce …

gb (code pays fourni par la source)

TEX264 drives selective autophagy of DNA lesions to promote DNA repair and cell survival

Pauline Lascaux, Gwendoline Hoslett, Sara Tribble, Camilla Trugenberger et autres

DNA repair and autophagy are distinct biological processes vital for cell survival. Although autophagy helps maintain genome stability, there is no evidence of its direct role in the repair of DNA lesions. We discovered that lysosomes process topoisomerase 1 cleavage complexes (TOP1cc) …

gb, hr, sg, pt (code pays fourni par la source)

In vivo Perturb-Seq reveals neuronal and glial abnormalities associated with autism risk genes

Xin Jin, Sean Simmons, Amy X. Guo, Ashwin S. Shetty et autres

The number of disease risk genes and loci identified through human genetic studies far outstrips the capacity to systematically study their functions. We applied a scalable genetic screening approach, in vivo Perturb-Seq, to functionally evaluate 35 autism spectrum disorder/neurodevelopmental delay (ASD/ND) de …

us, it (code pays fourni par la source)

In vivo Perturb-Seq reveals neuronal and glial abnormalities associated with Autism risk genes

Xin Jin, Sean Simmons, Amy X. Guo, Ashwin S. Shetty et autres

Abstract The thousands of disease risk genes and loci identified through human genetic studies far outstrip our current capacity to systematically study their functions. New experimental approaches are needed for functional investigations of large panels of genes in a biologically relevant context. …

us, it (code pays fourni par la source)

The L444P Gba1 mutation enhances alpha-synuclein induced loss of nigral dopaminergic neurons in mice

Anna Migdalska‐Richards, Michał Węgrzynowicz, Raffaella Rusconi, Giulio Deangeli et autres

Mutations in glucocerebrosidase 1 (GBA1) represent the most prevalent risk factor for Parkinson's disease. The molecular mechanisms underlying the link between GBA1 mutations and Parkinson's disease are incompletely understood. We analysed two aged (24-month-old) Gba1 mouse models, one carrying a knock-out mutation …

gb, de, it (code pays fourni par la source)