Skip to main content
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1977 Mar;29(2):184–190.

Nature of the mutation in adult beta-galactosidase deficient patients.

J S O'Brien, A G Norden
PMCID: PMC1685254  PMID: 322478

Abstract

Fibroblasts from three chronically affected, beta-galactosidase deficient adults were shown to synthesize nearly normal quantities of immunologically reactive catalytically deficient beta-galactosidase, indicating that they are CRM + structural mutants.

Full text

PDF
184

Selected References

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

  1. 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]
  2. Galjaard H., Hoogeveen A., de Wit-Verbeek H. A., Reuser A. J., Ho M. W., Robinson D. Genetic heterogeneity in GM1-gangliosidosis. Nature. 1975 Sep 4;257(5521):60–62. doi: 10.1038/257060a0. [DOI] [PubMed] [Google Scholar]
  3. Leroy J. G., Ho M. W., MacBrinn M. C., Zielke K., Jacob J., O'Brien J. S. I-cell disease: biochemical studies. Pediatr Res. 1972 Oct;6(10):752–757. doi: 10.1203/00006450-197210000-00002. [DOI] [PubMed] [Google Scholar]
  4. Loonen M. C., Lugt L., Franke C. L. Letter: Angiokeratoma corporis diffusum and lysosomal enzyme deficiency. Lancet. 1974 Sep 28;2(7883):785–785. doi: 10.1016/s0140-6736(74)90984-2. [DOI] [PubMed] [Google Scholar]
  5. 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]
  6. Melchers F., Messer W. The mechanism of activation of mutant -galactosidase by specific antibodies. Eur J Biochem. 1973 Jun;35(2):380–385. doi: 10.1111/j.1432-1033.1973.tb02850.x. [DOI] [PubMed] [Google Scholar]
  7. 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]
  8. Norden A. G., O'Brien J. S. Binding of human liver beta-galactosidases to plant lectins insolubilized on agarose. Biochem Biophys Res Commun. 1974 Jan;56(1):193–198. doi: 10.1016/s0006-291x(74)80333-5. [DOI] [PubMed] [Google Scholar]
  9. Norden A. G., Tennant L. L., O'Brien J. S. GM1 ganglioside beta-galactosidase. A. Purification and studies of the enzyme from human liver. J Biol Chem. 1974 Dec 25;249(24):7969–7976. [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. 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]

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

RESOURCES