Esther M. Sammler

This study develops LC/MS methods for accurate BMP profiling, using CLN5 knockout cells to distinguish BMP from PG and introduce BMPII and BMPES metrics.

This study identifies biallelic LRRK2 loss-of-function variants as a cause of interstitial lung disease, showing reduced LRRK2 protein and impaired lung function in affected individuals.

The paper functionally characterizes PRKN variants using a pooled assay, reclassifies variants of uncertain significance, and predicts Parkinson's disease age at onset.

The paper identifies PPM1M as a phosphatase that reverses LRRK2-mediated Rab phosphorylation and links a rare mutation to Parkinson's disease.

This study investigates how inflammation and IL-4 regulate LRRK2 expression and activity in immune cells, revealing cell-specific effects and the role of the LRRK2-R1441C mutation.

The paper develops a tagless LysoIP method to isolate lysosomes from clinical samples and human cell lines, revealing glycerophosphodiesters as potential biomarkers for lysosomal storage disorders.

This study evaluates 100 LRRK2 variants linked to Parkinson's disease, identifying those that enhance kinase activity and microtubule binding, and highlights their implications for clinical trials.

The paper presents two methods to accurately detect GBA variants and reciprocal recombinants, showing higher GBA variant frequency in Lewy body dementia compared to Parkinson's disease.

The paper identifies mtDNA damage as a blood-based biomarker for Parkinson's disease, showing increased levels in early-stage patients and mutation carriers, suggesting its potential for patient stratification in clinical trials.

The paper develops and validates a multiplexed mass spectrometry assay to quantify LRRK2-phosphorylated Rab proteins and biomarker sites, showing VPS35[D620N] enhances Rab1 phosphorylation in Parkinson's disease.