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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7971029/
https://www.ncbi.nlm.nih.gov/pubmed/33727605
http://dx.doi.org/10.1038/s41598-021-85528-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7971029/
https://www.ncbi.nlm.nih.gov/pubmed/33727605
http://dx.doi.org/10.1038/s41598-021-85528-4

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