Diseases Farber

Koch, J., Gartner, S., Li, C.M., Quintern, L.E., Bernardo, K., Levran, O., Schnabel, D., Desnick, R.J., Schuchman, E.H. and Sandhoff, K., 1996, Molecular cloning and characterization of a full-length complementary DNA encoding human add ceramidase. Identification of the first molecular lesion causing Farber disease, J. Biol. Chem. 271 33110-33115. 

Ben-Yoseph Y, Gagne R, Parvathy MR, Mitchell DA, Momoi T (1989) Leukocyte and plasma N-laurylsphingosine deacylase (ceramidase) in Farber disease. Clin Genet 36 38-42... 

Figure 16-5. The pathway of sphingolipid catabolism. Diseases that result from specific enzyme deficiencies are as follows (1) GM, gangliosidosis (2) GM2 gangliosidosis (Tay-Sachs disease) (3) sialidosis (4) Fabry disease (5) Gaucher disease (6) Niemann-Pick disease (7) Krabbe disease (8) metachromatic leukodystrophy (9) Farber disease. Cer, Ceramide Glc, glucose Gal, galactose GalNAc, A -acetylgalactosamine NANA, N-acetyfiieuraminic acid.

Ceramide Farber disease (seven types) Acid ceramidase 8p22-21.2... 

Other lysosomal storage disorders include G j gangliosidoses, G gangliosidoses, Gaucher disease, Niemann-Pick disease, Fabry disease, fucosidosis, Schindler disease, metachromatic leukodystrophy, Krabbe disease, multiple sulfatase deficiency, Farber disease, and Wolman disease. Table 28-1 illustrates the enzyme deficiencies found in some of these disorders. 

Burek, C., Roth, J., Koch, H. G., Harzer, K., Los, M., and Schulze-Osthoff, K. (2001). The role of ceramide in receptor- and stress-induced apoptosis studied in acidic ceramidase-deficient Farber disease cells. Oncogene 45, 6493-6502. 

Farber disease Acid ceramidase deficiency Sugita et at., 1972... 

Farber disease (classical type) Ceramidase 8p22-p21.3 228000... 

Fabry disease 22.2.1 Farber disease, 22.2.2 Farber disease,... 

Figure 11.5. ) One of the major components in brain matter are lipids, and changes in phospholipid concentrations in tissue are associated with Farber disease, Alzheimer disease, and Gaucher disease. Therefore, by profiling the rat brain lipid metabolism using IM-MS, early detection could be beneficial for prevention or intervention of these diseases. The focus of this work was measuring lipids in rat brain tissue using a low-pressure matrix-assisted laser desorption/ionization (MALDI)-low pressure IM-MS and determining noncovalent complexes between lipids in the tissue and chlorisondamine, a nicotinic antagonist.

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