Mouse hippocampal slice cultures as an ex vivo model for investigating SGSH enzyme replacement therapy in different brain cell types
Signe Lyngby, Andrea Asenjo Martinez, Anne Kathrine Nielsen Lindberg, Kaspar Russ, Karina Fog, Florence Sotty, Malene Ambjørn · FENS Forum 2024
Since the first enzyme replacement therapy (ERT) for Gaucher disease was approved in 1991, ERT has become standard of care for several lysosomal storage diseases (LSD), collectively characterized by dysfunctional lysosomal enzymes leading to pathological substrate accumulation. Sanfilippo Syndrome type A (MPSIIIA) is a monogenetic disease caused by >150 different loss-of-function mutations in the lysosomal enzyme N-Sulfoglucosamine Sulfohydrolase (SGSH), resulting in accumulation of heparan sulfate (HS). This accumulation disrupts cellular homeostasis with consequences for autophagy and mit
ePoster · Neuroscience