Adiponectin overexpression improves metabolic abnormalities caused by acid ceramidase deficiency but does not prolong lifespan in a mouse model of Farber Disease [PDF]
Molecular Genetics and Metabolism ReportsFarber Disease is a debilitating and lethal childhood disease of ceramide accumulation caused by acid ceramidase deficiency. The potent induction of a ligand-gated neutral ceramidase activity promoted by adiponectin may provide sufficient lowering of ...
Marie K. Norris +8 more
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Farber disease: A clinical diagnosis
Journal of Pediatric Neurosciences, 2012 Baris Ekici +2 more
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Generation of an induced pluripotent stem cell line (TRNDi030-A) from a patient with Farber disease carrying a homozygous p. Y36C (c. 107 A>G) mutation in ASAH1 [PDF]
Stem Cell Research, 2021 Farber disease is an ultra-rare lysosomal storage disease. Mutations in the N-acylsphingosine amidohydrolase (ASAH1) gene, which encodes for the enzyme acid ceramidase (ACDase), cause ceramides to accumulate in the body.
Brianna M. Brooks +8 more
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Farber Disease Mimicking Juvenile Idiopathic Arthritis: The First Reported Case in Qatar and Review of the Literature [PDF]
Case Reports in Genetics, 2022 Farber disease (FD) is an extremely rare autosomal recessive disorder caused by the deficiency of lysosomal acid ceramidase. It is characterized by a triad of progressive multiple joints’ involvement, subcutaneous nodules, and hoarseness of voice.
Amal Al-Naimi +3 more
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Acid Sphingomyelinase Deficiency Ameliorates Farber Disease. [PDF]
Int J Mol Sci, 2019 Farber disease is a rare lysosomal storage disorder resulting from acid ceramidase deficiency and subsequent ceramide accumulation. No treatments for Farber disease are clinically available, and affected patients have a severely shortened lifespan. We have recently reported a novel acid ceramidase deficiency model that mirrors the human disease closely.
Beckmann N +10 more
europepmc +7 more sources
Acid ceramidase deficiency: Farber disease and SMA-PME [PDF]
Orphanet Journal of Rare Diseases, 2018 Acid ceramidase (ACDase) deficiency is a spectrum of disorders that includes a rare lysosomal storage disorder called Farber disease (FD) and a rare epileptic disorder called spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME).
Fabian P. S. Yu +3 more
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C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease [PDF]
Scientific Reports, 2017 Farber disease (FD) is a rare autosomal recessive disease caused by mutations in the acid ceramidase gene (ASAH1). Low ceramidase activity results in the accumulation of fatty substances, mainly ceramides.
Claudia Cozma +9 more
doaj +2 more sources
Farber disease: understanding a fatal childhood disorder and dissecting ceramide biology [PDF]
EMBO Molecular Medicine, 2013 See related article in EMBO Molecular Medicine http://dx.doi.org/10.1002/emmm ...
Mark S. Sands
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6-year-old child of farber lipogranulomatosis scheduled for dental procedures: Was anaesthesia riskier than the surgery itself? [PDF]
Saudi Journal of AnaesthesiaA 6-year-old child with Farber Lipogranulomatosis scheduled for dental procedures is a challenging case for safe, effective, and successful anaesthesia with well-communicated perioperative care.
Mishari M. Beragdar
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Biomolecules, 2023 Acid ceramidase (AC) is a lysosomal enzyme required to hydrolyze ceramide to sphingosine by the removal of the fatty acid moiety. An inherited deficiency in this activity results in two disorders, Farber Lipogranulomatosis and spinal muscular atrophy ...
Xingxuan He, Edward H. Schuchman
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