ArticleScientific reports2018
Deletion of MCP-1 Impedes Pathogenesis of Acid Ceramidase Deficiency.
Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 22 citations in OpenAlex.
- Metabolic masqueraders of paediatric and adult rheumatic diseases.Nature reviews. Rheumatology · 2026Review
- Combined treatment of Ketogenic diet and propagermanium reduces neuroinflammation in Tay-Sachs disease mouse model.Metabolic brain disease · 2025Article
- Endocannabinoid receptor 2 is a potential biomarker and therapeutic target for the lysosomal storage disorders.Journal of inherited metabolic disease · 2025Article
- Acid ceramidase expression reduces IFNγ secretion by mouse CD4Frontiers in immunology · 2024Article
- Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency.Communications biology · 2023Article
- Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions.Biomolecules · 2023Review
- Elusive Roles of the Different Ceramidases in Human Health, Pathophysiology, and Tissue Regeneration.Cells · 2020Review
- Naringin provides neuroprotection in CCL2-induced cognition impairment by attenuating neuronal apoptosis in the hippocampus.Behavioral and brain functions : BBF · 2020Article
- Acid Sphingomyelinase Deficiency Ameliorates Farber Disease.International journal of molecular sciences · 2019Article
- Hepatic pathology and altered gene transcription in a murine model of acid ceramidase deficiency.Laboratory investigation; a journal of technical methods and pathology · 2019Article
- Hematopoietic stem cell transplant does not prevent neurological deterioration in infants with Farber disease: Case report and literature review.JIMD reports · 2019Article
- Acid Ceramidase Deficiency in Mice Leads to Severe Ocular Pathology and Visual Impairment.The American journal of pathology · 2019Article
- Non-alcoholic fatty liver disease: Insights from sphingolipidomics.Biochemical and biophysical research communications · 2018Review
- Acid ceramidase deficiency: Farber disease and SMA-PME.Orphanet journal of rare diseases · 2018Review
Corrections and comments
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Authors and funding
3 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Farber Disease (FD) is an ultra-rare Lysosomal Storage Disorder caused by deficient acid ceramidase (ACDase) activity. Patients with ACDase deficiency manifest a spectrum of symptoms including formation of nodules, painful joints, and a hoarse voice. Classic FD patients will develop histiocytes in organs and die in childhood. Monocyte chemotactic protein (MCP-1; CCL2) is significantly elevated in both FD patients and a mouse model we previously generated. Here, to further study MCP-1 in FD, we created an ACDase;MCP-1 double mutant mouse. We show that deletion of MCP-1 reduced leukocytosis, delayed weight loss, and improved lifespan. Reduced inflammation and fibrosis were observed in livers from double mutant animals. Bronchial alveolar lavage fluid analyses revealed a reduction in cellular infiltrates and protein accumulation. Furthermore, reduced sphingolipid accumulation was observed in the lung and liver but not in the brain. The neurological and hematopoietic defects observed in FD mice were maintained. A compensatory cytokine response was found in the double mutants, however, that may contribute to continued signs of inflammation and injury. Taken together, targeting a reduction of MCP-1 opens the door to a better understanding of the mechanistic consequences of ceramide accumulation and may even delay the progression of FD in some organ systems.
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