H. Tsang

GTPBP8 is required for mitoribosomal biogenesis and mitochondrial translation

This study identifies GTPBP8 as a critical factor for mitoribosomal assembly and mitochondrial translation, showing its depletion impairs subunit maturation and function.

Multi-Species Phenotypic Screening across Disease Models of Mucolipidosis Type IV

The paper screens a compound library across invertebrate and human models of mucolipidosis IV to identify conserved disease modifiers, finding cyclin-dependent kinase inhibition as a potential therapeutic strategy.

Repurposing the aldose reductase inhibitor and diabetic neuropathy drug epalrestat for the congenital disorder of glycosylation PMM2-CDG

This paper identifies epalrestat, an existing drug, as a PMM2 enzyme activator for PMM2-CDG, showing it improves enzyme activity in patient fibroblasts.

Drug screens of NGLY1 Deficiency worm and fly models reveal catecholamine, NRF2 and anti-inflammatory pathway activation as potential clinical approaches

The paper identifies drug candidates that rescue growth in NGLY1-deficient worm and fly models by targeting NRF2, anti-inflammatory pathways, and catecholamine signaling.

Enabling Precision Medicine via standard communication of NGS provenance, analysis, and results

The paper introduces the BioCompute framework to standardize genomic data reporting, enabling reproducibility and interoperability in precision medicine.