Results 31 to 40 of about 8,571 (202)
Farber's disease (lysosomal acid ceramidase deficiency). [PDF]
Annals of the Rheumatic Diseases, 1987 The patient presented with progressive joint deformity, a hoarse voice, subsequent cachexia, and myoclonic seizures. She was first seen aged 22 months and died aged 6 years. A diagnosis of Farber's disease was made by demonstrating a deficiency of acid ceramidase both in leucocytes and fibroblasts.
R A, Jameson, P J, Holt, J H, Keen
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Adiponectin inhibits tumor necrosis factor-α-induced vascular inflammatory response via caveolin-mediated ceramidase recruitment and activation. [PDF]
, 2014 RATIONALE: Anti-inflammatory and vascular protective actions of adiponectin are well recognized. However, many fundamental questions remain unanswered.
Booth, David +10 more
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New fluorogenic probes for neutral and alkaline ceramidases
Journal of Lipid Research, 2019 New fluorogenic ceramidase substrates derived from the N-acyl modification of our previously reported probes (RBM14) are reported. While none of the new probes were superior to the known RBM14C12 as acid ceramidase substrates, the corresponding nervonic ...
Mireia Casasampere +9 more
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Farber disease: clinical presentation, pathogenesis and a new approach to treatment [PDF]
, 2007 Background Farber Disease is an autosomal-recessively inherited, lysosomal storage disorder caused by acid ceramidase deficiency and associated with distinct clinical phenotypes.
Karoline Ehlert +5 more
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Purification, Characterization, and Biosynthesis of Human Acid Ceramidase [PDF]
Journal of Biological Chemistry, 1995 Acid ceramidase (N-acylsphingosine deacylase, EC 3.5.1.23) is the lysosomal enzyme catalyzing the hydrolysis of ceramide to sphingosine and free fatty acid. Its inherited deficiency causes ceramide accumulation in Farber's disease. The enzyme was purified to apparent homogeneity from human urine by sequential chromatography on octyl-Sepharose ...
K, Bernardo +6 more
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PLoS ONE, 2013 The tumor suppressor PTEN is now understood to regulate cellular processes at the cytoplasmic membrane, where it classically regulates PI3K signaling, as well as in the nucleus where multiple roles in controlling cell cycle and genome stability have been
Thomas H Beckham +5 more
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Cell Death and Disease, 2022 Accumulation of lipids and their metabolites induces lipotoxicity in diabetic cardiomyopathy. Lowering ceramide concentration could reduce the impact of metabolic damage to target organs. Adiponectin improves lipotoxicity through its receptors (AdiopRs),
Yaeni Kim +10 more
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Stem Cells Translational Medicine, 2021 Gaucher disease (GD) is a lysosomal storage disorder caused by mutations in GBA1, the gene that encodes lysosomal β‐glucocerebrosidase (GCase). Mild mutations in GBA1 cause type 1 non‐neuronopathic GD, whereas severe mutations cause types 2 and 3 ...
Manasa P. Srikanth +6 more
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Involvement of caspase-3 and GD3 ganglioside in ceramide-induced apoptosis in Farber disease [PDF]
, 2000 Farber's disease (FD) is a rare genetic disorder caused by ceramidase deficiency, which results in ceramide accumulation in lung, liver, colon, skeletal muscle, cartilage, and bone.
BUCCHIERI, Fabio +6 more
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Autoproteolytic Cleavage and Activation of Human Acid Ceramidase [PDF]
Journal of Biological Chemistry, 2008 Herein we report the mechanism of human acid ceramidase (AC; N-acylsphingosine deacylase) cleavage and activation. A highly purified, recombinant human AC precursor underwent self-cleavage into alpha and beta subunits, similar to other members of the N-terminal nucleophile hydrolase superfamily.
Nataly, Shtraizent +5 more
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