Skip to main content
PMC home page
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1977 Nov;29(6):575–580.

Quantitation of the enzymically deficient cross reacting material in GM1 gangliosidoses.

Y Ben-Yoseph, B K Burton, H L Nadler
PMCID: PMC1685510  PMID: 412418

Abstract

Normal quantities of GM1 beta-galactosidase cross reacting material (CRM) (0.31-0.47 microgram/mg protein) were detected by a sensitive radial immunodiffusion assay in skin fibroblasts from patients with GM1 gangliosidosis type 1 and adult variants, whereas elevated levels were found in GM1 gangliosidosis type 2 (0.41-0.72 microgram/mg protein). The specific activity of the immunologically CRM towards GM1 ganglioside of normal fibroblasts was about 500 times that of type 1, 100 times that of type 2, and 30 times that of the adult variants.

Full text

PDF

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Axén R., Porath J., Ernback S. Chemical coupling of peptides and proteins to polysaccharides by means of cyanogen halides. Nature. 1967 Jun 24;214(5095):1302–1304. doi: 10.1038/2141302a0. [DOI] [PubMed] [Google Scholar]
  2. Derry D. M., Fawcett J. S., Andermann F., Wolfe L. S. Late infantile systemic lipidosis. Major monosialogangliosidosis. Delineation of two types. Neurology. 1968 Apr;18(4):340–348. doi: 10.1212/wnl.18.4.340. [DOI] [PubMed] [Google Scholar]
  3. Ho M. W., Cheetham P., Robinson D. Hydrolysis of GM1-ganglioside by human liver beta-galactosidase isoenzymes. Biochem J. 1973 Oct;136(2):351–359. doi: 10.1042/bj1360351. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Ho M. W., O'Brien J. S. Stimulation of acid beta-galactosidase activity by chloride ions. Clin Chim Acta. 1970 Nov;30(2):531–534. doi: 10.1016/0009-8981(70)90147-6. [DOI] [PubMed] [Google Scholar]
  5. LOWRY O. H., ROSEBROUGH N. J., FARR A. L., RANDALL R. J. Protein measurement with the Folin phenol reagent. J Biol Chem. 1951 Nov;193(1):265–275. [PubMed] [Google Scholar]
  6. Mancini G., Carbonara A. O., Heremans J. F. Immunochemical quantitation of antigens by single radial immunodiffusion. Immunochemistry. 1965 Sep;2(3):235–254. doi: 10.1016/0019-2791(65)90004-2. [DOI] [PubMed] [Google Scholar]
  7. Meisler M., Rattazzi M. C. Immunological studies of beta galactosidase in normal human liver and in GM1 gangliosidosis. Am J Hum Genet. 1974 Nov;26(6):683–691. [PMC free article] [PubMed] [Google Scholar]
  8. Norden A. G., O'Brien J. S. An electrophoretic variant of beta-galactosidase with altered catalytic properties in a patient with GM1 gangliosidosis. Proc Natl Acad Sci U S A. 1975 Jan;72(1):240–244. doi: 10.1073/pnas.72.1.240. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Norden A. G., O'Brien J. S. Ganglioside GM1 beta-galactosidase: studies in human liver and brain. Arch Biochem Biophys. 1973 Nov;159(1):383–392. doi: 10.1016/0003-9861(73)90465-7. [DOI] [PubMed] [Google Scholar]
  10. O'Brien J. S., Gugler E., Giedion A., Wiessmann U., Herschkowitz N., Meier C., Leroy J. Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid beta-galactosidase deficiency. Clin Genet. 1976 May;9(5):495–504. doi: 10.1111/j.1399-0004.1976.tb01603.x. [DOI] [PubMed] [Google Scholar]
  11. O'Brien J. S. Molecular genetics of GM1 beta-galactosidase. Clin Genet. 1975 Nov;8(5):303–313. [PubMed] [Google Scholar]
  12. O'Brien J. S., Norden A. G. Nature of the mutation in adult beta-galactosidase deficient patients. Am J Hum Genet. 1977 Mar;29(2):184–190. [PMC free article] [PubMed] [Google Scholar]
  13. O'Brien J. Generalized gangliosidosis. J Pediatr. 1969 Aug;75(2):167–186. doi: 10.1016/s0022-3476(69)80387-2. [DOI] [PubMed] [Google Scholar]
  14. Okada S., O'Brien J. S. Generalized gangliosidosis: beta-galactosidase deficiency. Science. 1968 May 31;160(3831):1002–1004. doi: 10.1126/science.160.3831.1002. [DOI] [PubMed] [Google Scholar]
  15. Radin N. S., Hof L., Bradley R. M., Brady R. O. Lactosylceramide galactosidase: comparison with other sphingolipid hydrolases in developing rat brain. Brain Res. 1969 Jul;14(2):497–505. doi: 10.1016/0006-8993(69)90124-3. [DOI] [PubMed] [Google Scholar]
  16. Shapira E., David A., DeGregorio R., Nadler H. L. Separation of beta-galactosidases and beta-glucosidases from human liver. Enzyme. 1976;21(4):332–341. doi: 10.1159/000458876. [DOI] [PubMed] [Google Scholar]
  17. Tanaka H., Suzuki K. Lactosylceramide beta-galactosidase in human sphingolipidoses. Evidence for two genetically distinct enzymes. J Biol Chem. 1975 Mar 25;250(6):2324–2332. [PubMed] [Google Scholar]
  18. Wenger D. A., Goodman S. I., Myers G. G. Letter: Beta-galactosidase deficiency in young adults. Lancet. 1974 Nov 30;2(7892):1319–1320. doi: 10.1016/s0140-6736(74)90173-1. [DOI] [PubMed] [Google Scholar]
  19. Wenger D. A., Sattler M., Clark C., McKelvey H. An improved method for the identification of patients and carriers of Krabbe's disease. Clin Chim Acta. 1974 Oct 30;56(2):199–206. doi: 10.1016/0009-8981(74)90228-9. [DOI] [PubMed] [Google Scholar]
  20. Yamamoto A., Adachi S., Kawamura S., Takahashi M., Kitani T. Localized beta-galactosidase deficiency. Occurrence in cerebellar ataxia with myoclonus epilepsy and macular cherry-red spot--a new variant of GM1-gangliosidosis? Arch Intern Med. 1974 Oct;134(4):627–634. doi: 10.1001/archinte.134.4.627. [DOI] [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES