Article
Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage.
Proceedings of the National Academy of Sciences of the United States of America - 9 Nov 2010
Mistry Pramod K, Liu Jun, Yang Mei, Nottoli Timothy, McGrath James, Jain Dhanpat, Zhang Kate, Keutzer Joan, Chuang Wei-Lien, Chuang Wei-Lein, Mehal Wajahat Z, Zhao Hongyu, Lin Aiping, Mane Shrikant, Liu Xuan, Peng Yuan Z, Li Jian H, Agrawal Manasi, Zhu Ling-Ling, Blair Harry C, Robinson Lisa J, Iqbal Jameel, Sun Li, Zaidi Mone
Abstract excerpt
In nonneuronopathic type 1 Gaucher disease (GD1), mutations in the glucocerebrosidase gene (GBA1) gene result in glucocerebrosidase deficiency and the accumulation of its substrate, glucocerebroside (GL-1), in the lysosomes of mononuclear phagocytes. This prevailing macrophage-centric view, however, does not explain emerging aspects of the disease, including malignancy, autoimmune disease, Parkinson disease, and...
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