Literature DB >> 6222647

Differentiation of two variants of type-AB GM2-gangliosidosis using chromogenic substrates.

Y T Li, Y Hirabayashi, S C Li.   

Abstract

Two variants of type-ABGM2-gangliosidosis can be distinguished by using p-nitrophenyl-6-sulfo-2-acetamido-2-deoxy-beta-D-glucopyranoside (PNP-GlcNAc-6-SO4) as substrate. One of the variants is caused by a deficiency of the activator for the hydrolysis of GM2-ganglioside. The beta-hexosaminidase A from this variant has a normal activity toward both PNP-GlcNAc and PNP-GlcNAc-6-SO4. A second variant caused by a defect in the enzyme, beta-hexosaminidase A, exhibits severely attenuated activity toward PNP-GlcNAc-6-SO4 but normal activity toward PNP-GlcNAc.

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Year:  1983        PMID： 6222647      PMCID： PMC1685642     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  8 in total

1.  Fractionation of the products of the direct sulphation of monosaccharides on anion-exchange resin.

Authors:  A G LLOYD
Journal:  Biochem J       Date:  1962-06       Impact factor: 3.857

2.  A new variant of type-AB GM2-gangliosidosis.

Authors:  S C Li; Y Hirabayashi; Y T Li
Journal:  Biochem Biophys Res Commun       Date:  1981-07-30       Impact factor: 3.575

3.  A protein activator for the enzymic hydrolysis of GM2 ganglioside.

Authors:  S C Li; Y Hirabayashi; Y T Li
Journal:  J Biol Chem       Date:  1981-06-25       Impact factor: 5.157

4.  AB variant of infantile GM2 gangliosidosis: deficiency of a factor necessary for stimulation of hexosaminidase A-catalyzed degradation of ganglioside GM2 and glycolipid GA2.

Authors:  E Conzelmann; K Sandhoff
Journal:  Proc Natl Acad Sci U S A       Date:  1978-08       Impact factor: 11.205

5.  The AB-variant of GM2-gangliosidosis. Clinical, biochemical, and pathological studies of two patients.

Authors:  J E Goldman; T Yamanaka; I Rapin; M Adachi; K Suzuki; K Suzuki
Journal:  Acta Neuropathol       Date:  1980       Impact factor: 17.088

6.  The protein activator specific for the enzymic hydrolysis of GM2 ganglioside in normal human brain and brains of three types of GM2 gangliosidosis.

Authors:  Y Hirabayashi; Y T Li; S C Li
Journal:  J Neurochem       Date:  1983-01       Impact factor: 5.372

7.  Deficiency of the hexosaminidase A activator protein in a case of GM2 gangliosidosis; variant AB.

Authors:  P Hechtman; B A Gordon; N M Ng Ying Kin
Journal:  Pediatr Res       Date:  1982-03       Impact factor: 3.756

8.  Liberation of N-acetylglucosamine-6-sulfate by human beta-N-acetylhexosaminidase A.

Authors:  H Kresse; W Fuchs; J Glössl; D Holtfrerich; W Gilberg
Journal:  J Biol Chem       Date:  1981-12-25       Impact factor: 5.157
  8 in total
  4 in total

1.  Diagnosis and carrier detection of Tay-Sachs disease: direct determination of hexosaminidase A using 4-methylumbelliferyl derivatives of beta-N-acetylglucosamine-6-sulfate and beta-N-acetylgalactosamine-6-sulfate.

Authors:  Y Ben-Yoseph; J E Reid; B Shapiro; H L Nadler
Journal:  Am J Hum Genet       Date:  1985-07       Impact factor: 11.025

2.  GM2-gangliosidosis variant with altered substrate specificity: evidence for alpha-locus genetic compound.

Authors:  G T Besley; D M Broadhead; J A Young
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

3.  Diagnosis of infantile and juvenile forms of GM2 gangliosidosis variant 0. Residual activities toward natural and different synthetic substrates.

Authors:  H J Kytzia; U Hinrichs; K Sandhoff
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

4.  GM2-ganglioside metabolism in hexosaminidase A deficiency states: determination in situ using labeled GM2 added to fibroblast cultures.

Authors:  S S Raghavan; A Krusell; J Krusell; T A Lyerla; E H Kolodny
Journal:  Am J Hum Genet       Date:  1985-11       Impact factor: 11.025
  4 in total

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