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Journal List > Am J Hum Genet > v.29(6); Nov 1977

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Am J Hum Genet. 1977 November; 29(6): 575–580.
PMCID: PMC1685510
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Quantitation of the enzymically deficient cross reacting material in GM1 gangliosidoses.
Y Ben-Yoseph, B K Burton, and H L Nadler
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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.
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Selected References
These references are in PubMed. This may not be the complete list of references from this article.
  • Okada S, O'Brien JS. Generalized gangliosidosis: beta-galactosidase deficiency. Science. 1968 May 31;160(831):1002–1004. [PubMed]
  • O'Brien J. Generalized gangliosidosis. J Pediatr. 1969 Aug;75(2):167–186. [PubMed]
  • Derry DM, Fawcett JS, Andermann F, Wolfe LS. Late infantile systemic lipidosis. Major monosialogangliosidosis. Delineation of two types. Neurology. 1968 Apr;18(4):340–348. [PubMed]
  • Wenger DA, Goodman SI, Myers GG. Letter: Beta-galactosidase deficiency in young adults. Lancet. 1974 Nov 30;2(7892):1319–1320. [PubMed]
  • 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. [PubMed]
  • O'Brien JS, 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. [PubMed]
  • Ho MW, O'Brien JS. Stimulation of acid beta-galactosidase activity by chloride ions. Clin Chim Acta. 1970 Nov;30(2):531–534. [PubMed]
  • Norden AG, O'Brien JS. Ganglioside GM1 beta-galactosidase: studies in human liver and brain. Arch Biochem Biophys. 1973 Nov;159(1):383–392. [PubMed]
  • 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]
  • O'Brien JS. Molecular genetics of GM1 beta-galactosidase. Clin Genet. 1975 Nov;8(5):303–313. [PubMed]
  • Meisler M, Rattazzi MC. Immunological studies of beta galactosidase in normal human liver and in GM1 gangliosidosis. Am J Hum Genet. 1974 Nov;26(6):683–691. [PubMed]
  • O'Brien JS, Norden AG. Nature of the mutation in adult beta-galactosidase deficient patients. Am J Hum Genet. 1977 Mar;29(2):184–190. [PubMed]
  • Shapira E, David A, DeGregorio R, Nadler HL. Separation of beta-galactosidases and beta-glucosidases from human liver. Enzyme. 1976;21(4):332–341. [PubMed]
  • LOWRY OH, ROSEBROUGH NJ, FARR AL, RANDALL RJ. Protein measurement with the Folin phenol reagent. J Biol Chem. 1951 Nov;193(1):265–275. [PubMed]
  • Radin NS, Hof L, Bradley RM, Brady RO. Lactosylceramide galactosidase: comparison with other sphingolipid hydrolases in developing rat brain. Brain Res. 1969 Jul;14(2):497–505. [PubMed]
  • Wenger DA, 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. [PubMed]
  • Ho MW, Cheetham P, Robinson D. Hydrolysis of GM1-ganglioside by human liver beta-galactosidase isoenzymes. Biochem J. 1973 Oct;136(2):351–359. [PubMed]
  • Norden AG, O'Brien JS. 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. [PubMed]
  • 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. [PubMed]
  • Mancini G, Carbonara AO, Heremans JF. Immunochemical quantitation of antigens by single radial immunodiffusion. Immunochemistry. 1965 Sep;2(3):235–254. [PubMed]
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