Insights into the pathophysiology of Niemann-Pick disease 

Stimulation of mGluR1/5 improves defective internalization of AMPA receptors in NPC1 mutant mouse

Lysosomal storage disorders (LSDs) are a central focus of research as performed at CENTOGENE. Characterization of a mouse model for the LSD Niemann-Pick disease suggested that defects in a cholesterol-associated signaling pathway may contribute to the neurological manifestations of this disorder. The study was published in the journal Cerebral Cortex.