Sara Gomes

Robust analytical methods for bis(monoacylglycero)phosphate profiling in health and disease

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.

Rare bi-allelic loss-of-function variants in the LRRK2 kinase cause interstitial lung disease

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.

Tagless LysoIP method for molecular profiling of lysosomal content in clinical samples

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.