Ocular phenotypes in a mouse model of impaired glucocerebrosidase activity
Ocular phenotypes in a mouse model of impaired glucocerebrosidase activity
About this item
Full title
Author / Creator
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 and Bingol, Baris
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
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 glucosylceramide (GluCer) and glucosylsphingosi...
Alternative Titles
Full title
Ocular phenotypes in a mouse model of impaired glucocerebrosidase activity
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_08dc67cbf02f4f9ab4c713dcac4d0867
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_08dc67cbf02f4f9ab4c713dcac4d0867
Other Identifiers
ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-021-85528-4
