Ocular phenotypes in a mouse model of impaired glucocerebrosidase activity

Mutations in the GBA1 gene encoding glucocerebrosidase (GCase) are linked to Gaucher (GD) and Parkinson’s Disease (PD). Since some GD and PD patients develop ocular phenotypes, we determined whether ocular phenotypes might result from impaired GCase activity and the corresponding accumulation of glu...

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Published in:Sci Rep
Main Authors: Weber, Martin, Min, Sang-Won, Truong, Tom, Hung, Jeffrey, Dale, Stephanie, Reichelt, Mike, Ubhayakar, Savita, Cain-Hom, Carol, Baca, Miriam, Jiang, Zhiyu, Li, Qingling, Brendza, Robert, Lin, Han, Kung, Chung, Forrest, William F., Quiason-Huynh, Cristine, Sandoval, Wendy, Chen, Buyun, Deng, Yuzhong, Easton, Amy, Foreman, Oded, Sene, Abdoulaye, Bingol, Baris
Format: Artigo
Language:Inglês
Published: Nature Publishing Group UK 2021
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7971029/
https://ncbi.nlm.nih.gov/pubmed/33727605
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-021-85528-4
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