ArticleEMBO molecular medicine2013
Systemic ceramide accumulation leads to severe and varied pathological consequences.
Article in EMBO molecular medicine, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers.
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Who cites it
54 citing papers in PubMed, 104 citations in OpenAlex.
- Lipidomics analysis of ceramidase inhibition-induced intracellular lipid profile changes in lung cancer cells.Medical oncology (Northwood, London, England) · 2025Article
- Serum N-glycosylation is altered in Nephropathic Cystinosis.Glycobiology · 2025Article
- The role of sphingolipids in heart failure.European heart journal open · 2025Review
- Acid Ceramidase Deficiency: New Insights on SMA-PME Natural History, Biomarkers, andNeurology. Genetics · 2025Article
- Cardiac dysfunction and altered gene expression in acid ceramidase-deficient mice.American journal of physiology. Heart and circulatory physiology · 2025Article
- Endocannabinoid receptor 2 is a potential biomarker and therapeutic target for the lysosomal storage disorders.Journal of inherited metabolic disease · 2025Article
- Unravelling neuronal and glial differences in ceramide composition, synthesis, and sensitivity to toxicity.Communications biology · 2024Article
- 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
- Pressure sensing of lysosomes enables control of TFEB responses in macrophages.Nature cell biology · 2024Article
- Emerging role of sphingolipids and extracellular vesicles in development and therapeutics of cardiovascular diseases.International journal of cardiology. Heart & vasculature · 2024Review
- Adiponectin overexpression improves metabolic abnormalities caused by acid ceramidase deficiency but does not prolong lifespan in a mouse model of Farber Disease.Molecular genetics and metabolism reports · 2024Article
- Lack of SPNS1 results in accumulation of lysolipids and lysosomal storage disease in mouse models.JCI insight · 2024Article
- Acid ceramidase expression reduces IFNγ secretion by mouse CD4Frontiers in immunology · 2024Article
- Acid ceramidase regulates innate immune memory.Cell reports · 2023Article
- 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
- Gene therapy for lysosomal storage diseases: Current clinical trial prospects.Frontiers in genetics · 2023Review
- The clinical spectrum of SMA-PME and in vitro normalization of its cellular ceramide profile.Annals of clinical and translational neurology · 2022Review
- Skin inflammation and impaired adipogenesis in a mouse model of acid ceramidase deficiency.Journal of inherited metabolic disease · 2022Article
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19 authors at 7 institutions in 5 countries.
Funding
Abstract
Farber disease (FD) is a severe inherited disorder of lipid metabolism characterized by deficient lysosomal acid ceramidase (ACDase) activity, resulting in ceramide accumulation. Ceramide and metabolites have roles in cell apoptosis and proliferation. We introduced a single-nucleotide mutation identified in human FD patients into the murine Asah1 gene to generate the first model of systemic ACDase deficiency. Homozygous Asah1(P361R/P361R) animals showed ACDase defects, accumulated ceramide, demonstrated FD manifestations and died within 7-13 weeks. Mechanistically, MCP-1 levels were increased and tissues were replete with lipid-laden macrophages. Treatment of neonates with a single injection of human ACDase-encoding lentivector diminished the severity of the disease as highlighted by enhanced growth, decreased ceramide, lessened cellular infiltrations and increased lifespans. This model of ACDase deficiency offers insights into the pathophysiology of FD and the roles of ACDase, ceramide and related sphingolipids in cell signaling and growth, as well as facilitates the development of therapy.
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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.