Tay-Sachs Disease: Generalized Absence of a Beta-D-N-Acetylhexosaminidase Component

@article{Okada1969TaySachsDG,
  title={Tay-Sachs Disease: Generalized Absence of a Beta-D-N-Acetylhexosaminidase Component},
  author={S. Okada and J. O'brien},
  journal={Science},
  year={1969},
  volume={165},
  pages={698 - 700}
}
  • S. Okada, J. O'brien
  • Published 1969
  • Biology, Medicine
  • Science
    • Two hexosaminidase components, separable by starch-gel electrophoresis and possessing both β-D-N-acetylglucosaminidase and β-D-N-acetylgalactosaminidase activity, are present in human tissues. One of these, hexosaminidase component A, is absent in brain, liver, kidney, skin, cultured skin fibroblasts, blood plasma, and leukocytes from nine patients with Tay-Sachs disease. Hexosaminidase assay may facilitate the early diagnosis of individuals homozygous for Tay-Sachs disease. 
    View on AAAS
    ncbi.nlm.nih.gov
    594 Citations
    Highly Influencial Citations
    5
    Background Citations
    49
    Methods Citations
    9
    594 Citations
    Citation Type

    Citation Type

    Identification of Tay-Sachs Genotypes by Hexosaminidase Analysis of Urine and Tear Samples
    • 3
    Diagnosis of Tay-Sachs disease by estimation of β-N-acetylhexosaminidase activity using a radiolabeled hyaluronic acid-derived trisaccharide substrate
    • 3
    Human urinary N-acetyl-β-hexosaminidases
    • 22
    A new from of residual hexosaminidase activity in infantile Tay Sachs disease fibroblasts
    • 4
    Tay-Sachs Disease with Altered β-Hexosaniinidase B: A New Variant?
    • 13
    • PDF
    Tay-Sachs' retina. Deficiency of acetyl hexosaminidase A.
    • E. Cotlier
    • Biology, Medicine
    • Archives of ophthalmology
    • 1971
    • 6
    Chromatographic study of serum hexosaminidase in normal and GM 2-gangliosidosis.
    • 5
    Demonstration of an alteration of ganglioside metabolism in Tay-Sachs disease.
    • 111
    Tay-Sachs disease--the use of tears for the detection of heterozygotes.
    • 40
    Evidence for the presence of β-subunit of hexosaminidase in a case of Sandhoff disease using a blotting technique
    • 6

    References

    SHOWING 1-10 OF 11 REFERENCES
    Generalized Gangliosidosis: Beta-Galactosidase Deficiency
    • 320
    The chemical structure of normal human brain and Tay-Sachs gangliosides.
    • L. Svennerholm
    • Chemistry, Medicine
    • Biochemical and biophysical research communications
    • 1962
    • 173
    ULTRASTKUCTURAL AND BIOCHEMICAL OBSERVATIONS ON A CASE OF SYSTEMIC LATE INFANTILE LIPIDOSIS AND ITS RELATIONSHIP TO TAY‐SACHS DISEASE AND GARGOYLISM
    • 147
    N-Acetyl-β-glucosaminidases in human spleen
    • 400
    Hurler's Syndrome: Deficiency of a Specific Beta Galactosidase Isoenzyme
    • 81
    HISTOCHEMICAL DEMONSTRATION OF N-ACETYL-β-GLUCOSAMINIDASE EMPLOYING NAPHTHOL AS-BI N-ACETYL-β-GLUCOSAMINIDE AS SUBSTRATE
    • 193
    Isolation of -galactosidase and -glucosidase from brain
    • 121
    Tay-Sachs Disease (Grune
    • 1964
    Kihara and the staff of Pacific State Hospital
      Studies on glucosaminidase. 4. The fluorimetric assay of N-acetyl-beta-glucosaminidase.
      • 389