S. Pablo Sardi

The paper identifies a novel nuclear signaling pathway involving ErbB4 and PARP1 that regulates astrocyte differentiation during brain development.

This paper presents preclinical data on a bispecific antibody, SAR446159, designed to target alpha-synuclein aggregates and cross the blood-brain barrier for treating synucleinopathies.

The paper inhibits Elovl1 in a mouse model of ALD to reduce VLCFA accumulation, finding it corrects lipid pathways but also causes unexpected transcriptional changes.

This paper describes an AAV-mediated gene therapy strategy for GBA1-PD and Gaucher Disease, demonstrating robust GCase replenishment and cross-correction in preclinical models.

This study identifies genetic variants associated with glucocerebrosidase activity using GWAS in two cohorts, finding GBA1 variants and a novel association in the GAA locus.

The paper shows that manipulating the UPR pathway can restore brain function and reduce aging-related deficits.

This study creates a double-hit mouse model combining GBA1 downregulation and alpha-synuclein overexpression to show synergistic nigrostriatal neurodegeneration in Parkinson's disease.

The paper profiles single nuclei from human putamen in Parkinson's Disease and Multiple System Atrophy, revealing disease-specific oligodendrocyte heterogeneity and gene expression changes.

The paper constructs a single-cell atlas of human putamen tissue from healthy controls, Parkinson's Disease, and Multiple System Atrophy to identify cell-type specific disease changes.

This study shows that forcing dimerization between ATF6f and XBP1s enhances UPR activity, reducing protein aggregation in neurodegenerative disease models.

This paper computes a genome-wide polygenic risk score for Parkinson's Disease using 6.2 million variants and finds it strongly associates with increased disease risk and earlier onset.

This study identifies IGF2 as a disease modifier that reduces intracellular protein aggregates by promoting their extracellular disposal in Huntington's disease models.

The paper identifies a conserved SNCA co-expression module in human brain single-nucleus RNA-seq data and links it to Parkinson's Disease risk loci through protein-protein interaction networks and CRISPR validation.