ArticleThe American journal of pathology2019
Acid Ceramidase Deficiency in Mice Leads to Severe Ocular Pathology and Visual Impairment.
Article in The American journal of pathology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 30 citations in OpenAlex.
- Lipid homeostasis plays a critical role in inherited and acquired retinal diseases.Communications biology · 2026Review
- Acid sphingomyelinase inhibition restores RPE homeostasis and photoreceptor function in preclinical Stargardt macular degeneration models.bioRxiv : the preprint server for biology · 2026Article
- Article
- Sphingosine-1-phosphate signaling regulates the ability of Müller glia to become neurogenic, proliferating progenitor-like cells.bioRxiv : the preprint server for biology · 2025Article
- Hematopoietic stem cell transplantation leads to biochemical and functional correction in two mouse models of acid ceramidase deficiency.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency.Communications biology · 2023Article
- rAAV-mediated over-expression of acid ceramidase prevents retinopathy in a mouse model of Farber lipogranulomatosis.Gene therapy · 2023Article
- Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions.Biomolecules · 2023Review
- Skin inflammation and impaired adipogenesis in a mouse model of acid ceramidase deficiency.Journal of inherited metabolic disease · 2022Article
- Sphingomyelinases in retinas and optic nerve heads: Effects of ocular hypertension and ischemia.Experimental eye research · 2022Article
- Dynamic lipid turnover in photoreceptors and retinal pigment epithelium throughout life.Progress in retinal and eye research · 2022Review
- Hydroxychloroquine Causes Early Inner Retinal Toxicity and Affects Autophagosome-Lysosomal Pathway and Sphingolipid Metabolism in the Retina.Molecular neurobiology · 2022Article
- Inhibition of ceramide accumulation in AdipoR1-/- mice increases photoreceptor survival and improves vision.JCI insight · 2022Article
- Verteporfin treatment controls morphology, phenotype, and global gene expression for cells of the human nucleus pulposus.JOR spine · 2020Article
- Downregulation of Lysosomal Acid Ceramidase Mediates HMGB1-Induced Migration and Proliferation of Mouse Coronary Arterial Myocytes.Frontiers in cell and developmental biology · 2020Article
- The Interplay between Retinal Pathways of Cholesterol Output and Its Effects on Mouse Retina.Biomolecules · 2019Article
- Acid Sphingomyelinase Deficiency Ameliorates Farber Disease.International journal of molecular sciences · 2019Article
- Sphingolipids as Emerging Mediators in Retina Degeneration.Frontiers in cellular neuroscience · 2019Review
- Eye involvement in inherited metabolic disorders.Therapeutic advances in ophthalmologyReview
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 4 countries.
Funding
Abstract
Farber disease (FD) is a debilitating lysosomal storage disorder characterized by severe inflammation and neurodegeneration. FD is caused by mutations in the ASAH1 gene, resulting in deficient acid ceramidase (ACDase) activity. Patients with ACDase deficiency exhibit a broad clinical spectrum. In classic cases, patients develop hepatosplenomegaly, nervous system involvement, and childhood mortality. Ocular manifestations include decreased vision, a grayish appearance to the retina with a cherry red spot, and nystagmus. That said, the full effect of ACDase deficiency on the visual system has not been studied in detail. We previously developed a mouse model that is orthologous for a known patient mutation in Asah1 that recapitulates human FD. Herein, we report evidence of a severe ocular pathology in Asah1
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.