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The Crinkled (cr) Mutation, Chromosome 13
Published in John P. Sundberg, Handbook of Mouse Mutations with Skin and Hair Abnormalities, 2020
Brain lipids varied between crinkled and control mice, but changes depended upon age of the animals. In crinkled mice, sulfatides were elevated at 21 days of age. Cerebrosides were significantly higher at 17 months of age. Cholesterol esters were found in crinkled mice but not controls at 12 months of age.8
Krabbe disease/galactosylceramide lipidosis/globoid cell leukodystrophy
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
The syndrome was first described by Krabbe in 1916 [1]. He reported five patients, of whom four represented two sets of siblings. All were normal at birth, but had rapidly progressive neurologic deterioration from an early onset at 4–6 months until death by the age of 1.5–2 years. In addition to a detailed description of clinical features of the disease, he clearly documented the pathognomonic neuropathologic features of the disorder, including the accumulation of large multinucleated globoid cells. Chemical analysis documented the accumulation of cerebroside in these cells [2, 3] and the induction of globoid cells uniquely by the intracerebral administration of galactocerebroside [4, 5]. The enzymatic defect (Figure 93.1) was discovered in 1970 by Suzuki and colleagues [6, 7], in galactocerebrosidase (galactosylceramide-β-galactosidase) (EC 3.2.1.46). The cDNA has been cloned [8], and the gene was mapped to chromosome 14q24.3–32.1 [9, 10]. A considerable number and variety of mutations have been identified [11]. A single mutation, a 30 kb deletion (502Tdel) has accounted for a large number of Northern European, US, and Mexican patients [12, 13].
Diseases of the Nervous System
Published in George Feuer, Felix A. de la Iglesia, Molecular Biochemistry of Human Disease, 2020
George Feuer, Felix A. de la Iglesia
In Gaucher’s disease, the neural changes are frequently severe, and the brain involvement shows marked but patchy loss of nerve cells and neuronophagia. Some neurons store glycolipid, and this substance accumulates also in the liver, spleen, bone marrow, lymph glands, and occasionally the brain, with Gaucher cells. The reticuloendothelial cells accumulate ceramide glucoside or glucocerebroside, and in the spleen it may increase from the normal 0.1 to 0.2% up to 4% in Gaucher’s disease.319 The affected neurons also contain cerebrosides. The metabolic defect comprises the deficiency of glucocerebrosidase which catalyzes the hydrolytic breakdown of glucocerebroside to glucose and N-acylsphingosine (Table 3). This enzyme is also present in normal human brain, and in Gaucher’s disease it is reduced to minimum levels or completely absent. The loss of this enzyme activity is the probable cause of the neuropathological manifestations. Gangliosides are the source of glucocerebroside in peripheral tissues of patients suffering from Gaucher’s disease and are likely the principal substances of glucocerebroside accumulating in the brain.85
Synthesis and structure-activity relationships of cerebroside analogues as substrates of cerebroside sulphotransferase and discovery of a competitive inhibitor
Published in Journal of Enzyme Inhibition and Medicinal Chemistry, 2020
Wenjin Li, Joren Guillaume, Younis Baqi, Isabell Wachsmann, Volkmar Gieselmann, Serge Van Calenbergh, Christa E. Müller
Psychosine was purchased from Sigma (Steinheim, Germany). Galactosylceramide and glucosylceramide were obtained from Matreya LLC (Pleasant Gap, PA); according to the supplier, cerebroside consists of a mixture of saturated or unsaturated fatty acid residues (C16:0, C18:0, C20:0, C22:0, C23:0, C24:0–C27:0, C24:1–C27:1) or hydroxyacyl residues (C18:0(2–OH), C20:0(2–OH), C22:0(2–OH), C23:0(2–OH), C24:0(2–OH), C24:1(2–OH), C25:0(2–OH)) and glucosylceramide are a mixture of glucosylceramide with saturated or unsaturated fatty acid residues (C16:0, C18:0, C20:0, C22:0, C23:0, C24:0, C24:1). 3-Phosphoadenosine-5-phosphosulphate (PAPS) was purchased from Bellbrook Labs (No. 2059) in high purity. Other commercial sources of PAPS typically contain significant amounts of PAP and are, therefore, not suitable for the assay18. α-Galactosylceramide (KRN7000) was purchased from Avanti Polar Lipids, (Alabaster, AL). β-KRN7000 was synthesised and provided by the laboratory of S. van Calenbergh.
Ceramide pathway: A novel approach to cancer chemotherapy
Published in Egyptian Journal of Basic and Applied Sciences, 2018
Mahdi Mashhadi Akbar Boojar, Masoud Mashhadi Akbar Boojar, Sepide Golmohammad
Sphingolipids are a class of lipids with sphingosine as a complex amino alcohol core containing 18 carbons, which together with glycerolipids and sterols, form the major part of the cell membrane structure. Ceramide as ubiquitous sphingolipids is composed of a sphingosine, which is amide-bonded to a fatty acyl chain with different numbers of carbons, ranging from 14 to 26 [16]. Ceramides are one of the major components of the cell membrane and play a key role in protecting the cell from environmental stress [11]. The addition of phosphoethanolamine, monosaccharide or oligosaccharide together with sialic acid to ceramide leads to the formation of sphingomyelin, cerebrosides, and ganglioside, which, apart from the structural importance, they play a role as biological markers and the binding agent of extracellular ligands to the receptor [3,17] .
A comparison of human natural monoclonal antibodies and aptamer conjugates for promotion of CNS remyelination: where are we now and what comes next?
Published in Expert Opinion on Biological Therapy, 2018
Maria K. Perwein, John A. Smestad, Arthur E. Warrington, Robin M. Heider, Mark W. Kaczor, Louis J. Maher, Bharath Wootla, Ahmad Kunbaz, Moses Rodriguez
Specific details of binding and mechanism of action are not clear at this time, but according to prior results, we suggest that rHIgM22 binds to sulfated antigens in lipid rafts on the surface of OLs and myelin. Myelinated tracts in mice lacking the enzymes cerebroside sulfotransferase or cerebroside galactosyltransferase, and therefore lacking sulfatide and galactosylcerebroside, are not recognized by rHIgM22 [44]. Myaptavin-3064 shows affinity for myelin proteins after extraction of lipids and immobilization (target = MBP sequences encoded in exon 2), but the aptamer-binding epitopes have not been identified yet. Proposed binding and mechanisms of action of rHIgM22 can be seen in Figure 4, but in the case of Myaptavin-3064, it is too early to make statements about its mechanism.