Karin Tuschl

This paper develops a pipeline to identify and evaluate novel manganese chelators using zebrafish and mouse models, finding that H3PyC3A and Me3PyC3A show improved manganese mobilization and reduced accumulation.

RAPID uses targeted long-read RNA sequencing to resolve splice variants in rare disease cases, providing functional evidence for diagnosis and variant interpretation.

The paper establishes a humanized neuronal model to investigate the effects of manganese dysregulation on neuronal function and disease mechanisms.

The paper identifies manganese deficiency and neurotoxicity in zebrafish slc39a14 mutants through transcriptome analysis, revealing key molecular pathways involved in manganese homeostasis disruption.