Ellen Sidransky

This study identifies HexBMP(22:6_22:6) as a novel biomarker for mutant GBA1 using lysosomal profiling in mice and human samples.

The paper compares dopaminergic neurons from siblings with Gaucher disease to investigate genetic factors contributing to Parkinsonism.

The paper investigates how GBA1 mutations affect glycoprotein nonmetastatic melanoma protein B (GPNMB) expression in dopaminergic neurons, linking lipid accumulation to Parkinson's disease risk.

The paper investigates the biological impact of GBA1 mutations using multi-omics in isogenic iPSC lines, finding limited overlapping results across cell types and suggesting RNA-based quantitation may not be optimal for characterizing GCase mechanisms.

The paper evaluates the reliability of Gauchian for detecting GBA1 variants in whole genome sequencing, finding it misses some rare mutations and misreports genotypes due to database limitations.

This paper develops high-throughput assays to identify and optimize small-molecule stabilizers of misfolded β-glucocerebrosidase, showing NCGC326 reverses pathological accumulation and synergizes with proteostasis regulators.

The study tests whether GBA1 mutations or mouse genotype affect alpha-synuclein seeding in mice, finding no significant influence on seeding efficacy or pathology spread.

This study characterizes two novel human GCase antibodies for use in various assays to advance Parkinson disease research.

The paper examines how a polygenic Parkinson's disease genetic risk score modifies the risk of parkinsonism in Gaucher disease patients.

This paper identifies five new genetic risk loci for Lewy body dementia through whole-genome sequencing and shows shared risk profiles with Alzheimer’s and Parkinson’s disease.