Literature DB >> 820716

N-acetylgalactosamine-6-sulfate sulfatase in man. Absence of the enzyme in Morquio disease.

J Singh, N Di Ferrante, P Niebes, D Tavella.   

Abstract

Human N-acetylgalactosamine-6-sulfate sulfatase (6-sulfatase) activity is measured by using as a substrate a sulfated tetrasaccharide obtained by digesting purified chondroitin-6-sulfate (C-6-S) with testicular hyaluronidase. The amount of inorganic sulfate released is measured turbidimetrically. The enzyme from human kidney has a pH optimum of 4.8; its activity is augmented by low levels of NaCl and inhibited by phosphate and high levels of NaCl. Free glucuronate, acetylgalactosamine, inorganic sulfate, polymeric C-6-S, or tetrasaccharide obtained from chondroitin-4-sulfate do not affect the enzyme activity. The method may be used for the diagnosis of Morquio disease since extracts of Morquio fibroblasts are devoid of 6-sulfatase activity.

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Year:  1976        PMID: 820716      PMCID: PMC436747          DOI: 10.1172/JCI108345

Source DB:  PubMed          Journal:  J Clin Invest        ISSN: 0021-9738            Impact factor:   14.808


  16 in total

1.  A note on the determination of the ester sulphate content of sulphated polysaccharides.

Authors:  K S DODGSON; R G PRICE
Journal:  Biochem J       Date:  1962-07       Impact factor: 3.857

2.  Leukocyte preparations from human blood: evaluation of their morphologic and metabolic state.

Authors:  H J FALLON; E FREI; J D DAVIDSON; J S TRIER; D BURK
Journal:  J Lab Clin Med       Date:  1962-05

3.  Determination of inorganic sulphate in studies on the enzymic and non-enzymic hydrolysis of carbohydrate and other sulphate esters.

Authors:  K S DODGSON
Journal:  Biochem J       Date:  1961-02       Impact factor: 3.857

4.  Turbidimetric measurement of acid mucopolysaccharides and hyaluronidase activity.

Authors:  N DI FERRANTE
Journal:  J Biol Chem       Date:  1956-05       Impact factor: 5.157

5.  Protein measurement with the Folin phenol reagent.

Authors:  O H LOWRY; N J ROSEBROUGH; A L FARR; R J RANDALL
Journal:  J Biol Chem       Date:  1951-11       Impact factor: 5.157

6.  A submicrodetermination of glucose.

Authors:  J T PARK; M J JOHNSON
Journal:  J Biol Chem       Date:  1949-11       Impact factor: 5.157

7.  Uridine diphospho-N-acetylgalactosamine-4-sulfate sulfohydrolase activity of human arylsulfatase B and its deficiency in the Maroteaux-Lamy syndrome.

Authors:  A L Fluharty; R L Stevens; D Fung; S Peak; H Kihara
Journal:  Biochem Biophys Res Commun       Date:  1975-01-02       Impact factor: 3.575

8.  Sanfilippo disease: differentiation of types A and B by an analytical method.

Authors:  J Singh; P V Donnelly; N Di Ferrante; B L Nichols; P Niebes
Journal:  J Lab Clin Med       Date:  1974-09

9.  Determination of molecular weight distribution of acid mucopolysaccharides by sephadex gel filtration.

Authors:  G Constantopoulos; A S Dekaban; W R Carroll
Journal:  Anal Biochem       Date:  1969-10-01       Impact factor: 3.365

10.  A rapid procedure for the estimation of amino sugars on a micro scale.

Authors:  R Gatt; E R Berman
Journal:  Anal Biochem       Date:  1966-04       Impact factor: 3.365

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  27 in total

Review 1.  Replacement therapy in the mucopolysaccharidoses.

Authors:  M F Dean
Journal:  J Clin Pathol Suppl (R Coll Pathol)       Date:  1978

2.  Morquio Syndrome: A Case Report.

Authors:  Kamleshun Ramphul; Stephanie G Mejias; Yogeshwaree Ramphul-Sicharam
Journal:  Cureus       Date:  2018-03-05

3.  Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency.

Authors:  S Tomatsu; S Fukuda; A Yamagishi; A Cooper; J F Wraith; T Hori; Z Kato; N Yamada; K Isogai; K Sukegawa; N Kondo; Y Suzuki; N Shimozawa; T Orii
Journal:  Am J Hum Genet       Date:  1996-05       Impact factor: 11.025

Review 4.  Mucopolysaccharidosis IVA and glycosaminoglycans.

Authors:  Shaukat Khan; Carlos J Alméciga-Díaz; Kazuki Sawamoto; William G Mackenzie; Mary C Theroux; Christian Pizarro; Robert W Mason; Tadao Orii; Shunji Tomatsu
Journal:  Mol Genet Metab       Date:  2016-11-29       Impact factor: 4.797

5.  Ocular histopathology and ultrastructure of Morquio syndrome (systemic mucopolysaccharidosis IV A).

Authors:  M Iwamoto; Y Nawa; I H Maumenee; J Young-Ramsaran; R Matalon; W R Green
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1990       Impact factor: 3.117

6.  Glaucoma in siblings with Morquio syndrome.

Authors:  M Cahane; G Treister; F A Abraham; S Melamed
Journal:  Br J Ophthalmol       Date:  1990-06       Impact factor: 4.638

7.  Residual activity in fibroblasts from two brothers with the late-onset form of N-acetylgalactosamine-6-sulphate sulphatase deficiency.

Authors:  K Sukegawa; T Orii
Journal:  J Inherit Metab Dis       Date:  1982       Impact factor: 4.982

8.  Mucopolysaccharidosis IVA: structural gene alterations identified by Southern blot analysis and identification of racial differences.

Authors:  S Tomatsu; S Fukuda; A Cooper; J E Wraith; A Uchiyama; T Hori; Y Nakashima; N Yamada; K Sukegawa; N Kondo
Journal:  Hum Genet       Date:  1995-04       Impact factor: 4.132

9.  Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases.

Authors:  S Fukuda; S Tomatsu; M Masue; K Sukegawa; H Iwata; T Ogawa; Y Nakashima; T Hori; A Yamagishi; Y Hanyu
Journal:  J Clin Invest       Date:  1992-09       Impact factor: 14.808

10.  Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype.

Authors:  Adriana Maria Montaño; Ilkka Kaitila; Kazuko Sukegawa; Shunji Tomatsu; Zenichiro Kato; Haruki Nakamura; Seiji Fukuda; Tadao Orii; Naomi Kondo
Journal:  Hum Genet       Date:  2003-04-30       Impact factor: 4.132

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