ArticleScientific reports2021
Ocular phenotypes in a mouse model of impaired glucocerebrosidase activity.
Article in Scientific reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- Ventromedial hypothalamic nucleus neuronal nitric oxide knockdown effects on GABAergic neuron metabolic sensor and transmitter marker gene expression in the male rat.BMC neuroscience · 2025Article
- SLC16A8 is a causal contributor to age-related macular degeneration risk.NPJ genomic medicine · 2024Article
- Glucose transporter-2 regulation of VMN GABA neuron metabolic sensor and transmitter gene expression.Scientific reports · 2024Article
- Clinical and pathological characterization of ophthalmic disease in a canine model of mucopolysaccharidosis type I.Journal of inherited metabolic disease · 2023Article
- Generation and characterization of a Müller-glial-cell-specific Il6ra knockout mouse to delineate the effects of IL-6 trans-signaling in the retina.Scientific reports · 2022Article
- Establishment and Phenotypic Analysis of the Novel Gaucher Disease Mouse Model With the Partially HumanizedFrontiers in genetics · 2022Article
- PRINCESS: comprehensive detection of haplotype resolved SNVs, SVs, and methylation.Genome biology · 2021Article
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Authors and funding
23 authors.
Funding
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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 accumulation of glucosylceramide (GluCer) and glucosylsphingosine (GluSph) in the Gba1
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