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
PDFSelected References
These references are in PubMed. This may not be the complete list of references from this article.
- 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]
- 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]
- 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]
- 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]
- 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]
- 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]
- 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]
- 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]
- 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]
- 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]
- O'Brien J. S. Molecular genetics of GM1 beta-galactosidase. Clin Genet. 1975 Nov;8(5):303–313. [PubMed] [Google Scholar]
- 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]