Ocular phenotypes in a mouse model of impaired glucocerebrosidase activity

Ocular phenotypes in a mouse model of impaired glucocerebrosidase activity

Abstract 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 accumulati...

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Autores principales: Martin Weber, Sang-Won Min, Tom Truong, Jeffrey Hung, Stephanie Dale, Mike Reichelt, Savita Ubhayakar, Carol Cain-Hom, Miriam Baca, Zhiyu Jiang, Qingling Li, Robert Brendza, Han Lin, Chung Kung, William F. Forrest, Cristine Quiason-Huynh, Wendy Sandoval, Buyun Chen, Yuzhong Deng, Amy Easton, Oded Foreman, Abdoulaye Sene, Baris Bingol
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
Materias:
Medicine
R
Science
Q
Acceso en línea:https://doaj.org/article/08dc67cbf02f4f9ab4c713dcac4d0867
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