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| record types: factsheet, level, food science, omega3 fatty acid , suzanne munson, nutrition facts, anti inflammatory herb, ayurveda, infertility, essentialfatty acids / phospholipids, plump butt , enderlein, salmon, george mateljan, plump jack squaw valley , canola oil, | Based upon genetic linkage analyses as well as enzyme studies and the characterization of accumulating lysosomal substances, Niemann Pick disease should be divided into type I and dogs type II; type I has 2 subtypes, A and B (NPA and NPB), which show deficiency of acid sphingomyelinase. Niemann Pick disease type II likewise has 2 subtypes, type C1 and C2 (NPC) and type D dogs (NPD). It is dogs obviously confusing to use the abbreviation NPD for Niemann Pick disease in some cases and for subtype D of Niemann Pick disease in other cases. Recent studies (Science vol. 277 pp. 228-231 and 232-235: July 11, 1997) identified the gene for NPC1. This gene contains regions of homology to mediators of cholesterol homeostasis suggesting why LDL-cholesterol accumulates in lysosomes of afflicted individuals. The encoded protein product of NPC1 gene is 1278 amino acids long. |
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| ganglioside:b -galactosidaseGM1 gangliosidemental retardation, skeletal abnormalities, hepatomegaly Sulfatide lipodosis; metachromatic leukodystrophyArylsulfatase ASulfatidemental retardation, metachromasia infertility of nerves Fucosidosisa-L-FucosidasePentahexosylfucoglycolipidcerebral degeneration, thickened skin, muscle spasticity Farber's lipogranulomatosisAcid ceramidaseCeramidehepatosplenomegaly, painful swollen joints The GM2 gangliosidoses include Tay-Sachs disease, the Sandhoff diseases and the GM2 activator deficiencies. GM2 infertility ganglioside degradation requires the enzyme b-hexosaminidase and the GM2 infertility activator protein (GM2A). Hexosaminidase is a dimer composed of 2 subunits, either a and/or b. The HexS protein is aa, HexA is ab and HexB is bb. It is the a-subunit that carries out the catalysis of GM2 gangliosides. The activator first binds to GM2 gangliosides followed by hexosaminidase and then digestion occurs. |
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