Emerging Therapies for Gaucher Disease: Gene Therapy and Beyond
Gaucher disease is an inherited lysosomal storage disorder that results from defects in the GBA gene. This gene provides instructions for making an enzyme called glucocerebrosidase. Glucocerebrosidase helps break down a fatty substance called glucocerebroside within cells, mainly in macrophages. Without enough working glucocerebrosidase enzyme, glucocerebroside accumulates in macrophages, causing abnormal enlargement of organs such as the spleen and liver. Gaucher Disease - https://www.patreon.com/posts/latest-in-127351983













