Literature DB >> 2107987

A fluorimetric enzyme assay for the diagnosis of Morquio disease type A (MPS IV A).

O P van Diggelen1, H Zhao, W J Kleijer, H C Janse, B J Poorthuis, J van Pelt, J P Kamerling, H Galjaard.   

Abstract

4-Methylumbelliferyl-beta-D-galactopyranoside-6-sulphate was synthesized and used for the determination of galactose-6-sulphate sulphatase activity. Fibroblasts and leucocytes from 12 different Morquio A patients, showed 0.0-2.7% of mean normal galactose-6-sulphate sulphatase activity. Heterozygotes showed intermediate activities. The enzymatic liberation of the fluorochrome from 4-methylumbelliferyl-beta-D-galactopyranoside-6-sulphate requires the sequential action of galactose-6-sulphate sulphatase and beta-galactosidase. Normal beta-galactosidase activity caused nearly complete hydrolysis of non-fluorescing 4-methylumbelliferyl-galactoside, formed during incubation. In cell extracts with a beta-galactosidase deficiency however, a second incubation in the presence of excess beta-galactosidase is needed to avoid underestimation of galactose-6-sulphate sulphatase activity.

Entities:  

Mesh：

Substances：

Year:  1990        PMID： 2107987     DOI： 10.1016/0009-8981(90)90339-t

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


  56 in total

1.  A new fluorimetric enzyme assay for the diagnosis of Niemann-Pick A/B, with specificity of natural sphingomyelinase substrate.

Authors:  O P van Diggelen; Ya V Voznyi; J L M Keulemans; K Schoonderwoerd; J Ledvinova; E Mengel; M Zschiesche; R Santer; K Harzer
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

2.  Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis IVA.

Authors:  Tanvir Khaliq; Martin Sadilek; C Ronald Scott; Frantisek Turecek; Michael H Gelb
Journal:  Clin Chem       Date:  2010-10-28       Impact factor: 8.327

3.  Enhancement of drug delivery: enzyme-replacement therapy for murine Morquio A syndrome.

Authors:  Shunji Tomatsu; Adriana M Montaño; Vu Chi Dung; Amiko Ohashi; Hirotaka Oikawa; Toshihiro Oguma; Tadao Orii; Luis Barrera; William S Sly
Journal:  Mol Ther       Date:  2010-03-23       Impact factor: 11.454

4.  External quality assurance programme for enzymatic analysis of lysosomal storage diseases: a pilot study.

Authors:  G J G Ruijter; M Boer; C W Weykamp; R de Vries; I van den Berg; J Janssens-Puister; K Niezen-Koning; R A Wevers; B J H M Poorthuis; O P van Diggelen
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

5.  Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substrates.

Authors:  O P van Diggelen; L F Oemardien; N A M E van der Beek; M A Kroos; H K Wind; Y V Voznyi; D Burke; M Jackson; B G Winchester; A J J Reuser
Journal:  J Inherit Metab Dis       Date:  2009-04-19       Impact factor: 4.982

6.  Spondyloepiphyseal dysplasias and bilateral legg-calvé-perthes disease: diagnostic considerations for mucopolysaccharidoses.

Authors:  Nancy J Mendelsohn; Timothy Wood; Rebecca A Olson; Renee Temme; Susan Hale; Haoyue Zhang; Lisa Read; Klane K White
Journal:  JIMD Rep       Date:  2013-05-09

7.  Enzyme replacement therapy in newborn mucopolysaccharidosis IVA mice: early treatment rescues bone lesions?

Authors:  Shunji Tomatsu; Adriana M Montaño; Hirotaka Oikawa; Vu Chi Dung; Amiko Hashimoto; Toshihiro Oguma; Monica L Gutiérrez; Tatsuo Takahashi; Tsutomu Shimada; Tadao Orii; William S Sly
Journal:  Mol Genet Metab       Date:  2014-06-04       Impact factor: 4.797

8.  Differential effects of estrogen exposure on arylsulfatase B, galactose-6-sulfatase, and steroid sulfatase in rat prostate development.

Authors:  Leo Feferman; Sumit Bhattacharyya; Lynn Birch; Gail S Prins; Joanne K Tobacman
Journal:  J Steroid Biochem Mol Biol       Date:  2014-02-06       Impact factor: 4.292

9.  CNS-directed gene therapy for the treatment of neurologic and somatic mucopolysaccharidosis type II (Hunter syndrome).

Authors:  Sandra Motas; Virginia Haurigot; Miguel Garcia; Sara Marcó; Albert Ribera; Carles Roca; Xavier Sánchez; Víctor Sánchez; Maria Molas; Joan Bertolin; Luca Maggioni; Xavier León; Jesús Ruberte; Fatima Bosch
Journal:  JCI Insight       Date:  2016-06-16

10.  Fluorimetric assays for N-acetylgalactosamine-6-sulfatase and arylsulfatase B based on the natural substrates for confirmation of mucopolysaccharidoses types IVA and VI.

Authors:  Arun Babu Kumar; Zdenek Spacil; Farideh Ghomashchi; Sophia Masi; Tomomi Sumida; Makoto Ito; Frantisek Turecek; C Ronald Scott; Michael H Gelb
Journal:  Clin Chim Acta       Date:  2015-08-15       Impact factor: 3.786
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.