Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage

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,...

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Bibliografski detalji
Glavni autori: Mistry, Pramod K., Liu, Jun, Yang, Mei, Nottoli, Timothy, McGrath, James, Jain, Dhanpat, Zhang, Kate, Keutzer, Joan, Chuang, Wei-Lien, 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
Format: Artigo
Jezik:Inglês
Izdano: National Academy of Sciences 2010
Teme:
Biological Sciences
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2984187/
https://ncbi.nlm.nih.gov/pubmed/20962279
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1003308107
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