Manuela Valsecchi

Mecp2 knock-out mouse astrocytes accumulate cholesterol yet release poorly lipidated ApoE; cholesterol supplementation restores synaptic puncta density in neurons exposed to their conditioned medium and in Mecp2 heterozygous neurons.

This study shows that combining gene therapy and bone marrow transplantation in a mouse model of GM2 gangliosidosis improves lifespan and reduces disease symptoms more effectively than either treatment alone.