Article
PGRN deficiency exacerbates, whereas a brain penetrant PGRN derivative protects, GBA1 mutation-associated pathologies and diseases.
Proceedings of the National Academy of Sciences of the United States of America - 3 Jan 2023
Zhao Xiangli, Lin Yi, Liou Benjamin, Fu Wenyu, Jian Jinlong, Fannie Venette, Zhang Wujuan, Setchell Kenneth D R, Grabowski Gregory A, Sun Ying, Liu Chuan-Ju
Abstract excerpt
Mutations in GBA1, encoding glucocerebrosidase (GCase), cause Gaucher disease (GD) and are also genetic risks in developing Parkinson's disease (PD). Currently, the approved therapies are only effective for directly treating visceral symptoms, but not for primary neuronopathic involvement in GD (nGD). Progranulin (PGRN), encoded by GRN, is a novel modifier of GCase, but the impact of PGRN in GBA1...
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