Annette Burkhart

This study uses ion mobility and mass spectrometry imaging to identify distinct ganglioside isomers in Niemann-Pick Disease, showing therapeutic effects of gene therapy on lipid localization.

AAV-BR1-NPC2 gene therapy reduces cholesterol deposition and neurological symptoms in NP-C2 mice by delivering NPC2 to brain endothelial cells and neurons.

The paper compares in vitro blood-brain barrier models from mice, rats, and pigs to identify species-dependent differences in barrier characteristics and TEER.