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• W2079726445 abstract "1 α-N-Acetylglucosaminidase, the enzyme deficient in Sanfilippo disease type B (mucopoly-saccharidosis III B) was purified from normal human urine. An antiserum was raised in rabbits against the purified enzyme. Preincubation of the antiserum with crude α-N-acetylglucosaminidase from normal human urine, followed by centrifugation, led to a marked reduction of the enzyme activity in the supernatant. Formation of the antibody-enzyme complex had no influence on the activity. The thermal stability of the enzyme was markedly enhanced by complex formation with the antiserum. 2 In the urine from three patients with Sanfilippo disease type B the presence of cross-reacting material could be demonstrated by incubating the antiserum with α-N-acetylglucosaminidase in the presence of Sanfilippo B urine or by pretreatment of the antiserum with Sanfilippo B urine. 3 Immunodiffusion and immunoelectrophoresis of crude normal or Sanfilippo B urine gave rise to up to four precipitation lines, only one of which exhibited α-N-acetylglucosaminidase activity in the case of normal urine. Purified α-N-acetylglucosaminidase yielded only a single precipitation line. After adsorption with the purified enzyme the antiserum did not cross react with any of the urinary proteins. 4 On a quantitative determination of cross-reacting material using Sepharose immobilized antibodies in the urine from two Sanfilippo B patients the amount of cross-reacting material appeared to be less than one fourth of the amount of α-N-acetylglucosaminidase protein in an age-matched control urine. The cross-reacting material present in the urine of Sanfilippo B patients had a significant lower binding affinity for antibodies against α-N-acetylglucosaminidase than preparations from normal human urine. Taking into account this lower binding affinity, it can be calculated that the amount of cross-reacting material in the urine of Sanfilippo B patients exceeds that of normal controls. 5 It is concluded that Sanfilippo disease type B is due to a mutation of a structural gene coding for α-N-acetylglucosaminidase. The mutation affects the catalytical and immunological properties of the enzyme protein." @default.
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• W2079726445 date "1976-01-01" @default.
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• W2079726445 title "Sanfilippo Disease Type B: Presence of Material Cross Reacting with Antibodies against a-N-Acetylglucosaminidase" @default.
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• W2079726445 doi "https://doi.org/10.1111/j.1432-1033.1976.tb10053.x" @default.
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