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  1. Insights into the pathophysiology of Niemann-Pick disease 

Insights into the pathophysiology of Niemann-Pick disease 

October 22, 2019

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.