Literature DB >> 11768586

A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease).

Y V Voznyi1, J L Keulemans, O P van Diggelen.   

Abstract

4-Methylumbelliferyl-alpha-iduronate 2-sulphate was synthesized and shown to be a specific substrate for the lysosomal iduronate-2-sulphate sulphatase (IDS). Fibroblasts (n = 17), leukocytes (n = 3) and plasmas (n = 9) from different MPS II patients showed < 5% of mean normal IDS activity. The enzymatic liberation of the fluorochrome from 4-methylumbelliferyl-alpha-iduronate 2-sulphate requires the sequential action of IDS and alpha-iduronidase. A normal level of alpha-iduronidase activity was insufficient to complete the hydrolysis of the reaction intermediate 4-methylumbelliferyl-alpha-iduronide formed by IDS. A second incubation step in the presence of excess purified alpha-iduronidase is needed to avoid underestimation of the IDS activity.

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Year:  2001        PMID： 11768586     DOI： 10.1023/a:1012763026526

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  6 in total

1.  A centrifuged-column procedure for the measurement of ligand binding by beef heart F1.

Authors:  H S Penefsky
Journal:  Methods Enzymol       Date:  1979       Impact factor: 1.600

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

Authors:  O P van Diggelen; H Zhao; W J Kleijer; H C Janse; B J Poorthuis; J van Pelt; J P Kamerling; H Galjaard
Journal:  Clin Chim Acta       Date:  1990-02-28       Impact factor: 3.786

Review 3.  Enzymic diagnosis of the genetic mucopolysaccharide storage disorders.

Authors:  C W Hall; I Liebaers; P Di Natale; E F Neufeld
Journal:  Methods Enzymol       Date:  1978       Impact factor: 1.600

4.  Purification of acid beta-galactosidase and acid neuraminidase from bovine testis: evidence for an enzyme complex.

Authors:  F Verheijen; R Brossmer; H Galjaard
Journal:  Biochem Biophys Res Commun       Date:  1982-09-30       Impact factor: 3.575

5.  alpha-L-iduronidase, beta-D-glucuronidase, and 2-sulfo-L-iduronate 2-sulfatase: preparation and characterization of radioactive substrates from heparin.

Authors:  J J Hopwood
Journal:  Carbohydr Res       Date:  1979-03       Impact factor: 2.104

6.  The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase.

Authors:  G Bach; F Eisenberg; M Cantz; E F Neufeld
Journal:  Proc Natl Acad Sci U S A       Date:  1973-07       Impact factor: 11.205
  6 in total
  66 in total

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Journal:  Anal Chem       Date:  2010-12-30       Impact factor: 6.986

2.  Taiwan National Newborn Screening Program by Tandem Mass Spectrometry for Mucopolysaccharidoses Types I, II, and VI.

Authors:  Min-Ju Chan; Hsuan-Chieh Liao; Michael H Gelb; Chih-Kuang Chuang; Mei-Ying Liu; Hsiao-Jan Chen; Shu-Min Kao; Hsiang-Yu Lin; You-Hsin Huang; Arun Babu Kumar; Naveen Kumar Chennamaneni; Nagendar Pendem; Shuan-Pei Lin; Chuan-Chi Chiang
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3.  Expression in CHO cells and pharmacokinetics and brain uptake in the Rhesus monkey of an IgG-iduronate-2-sulfatase fusion protein.

Authors:  Jeff Zhiqiang Lu; Ruben J Boado; Eric K-W Hui; Qing-Hui Zhou; William M Pardridge
Journal:  Biotechnol Bioeng       Date:  2011-03-15       Impact factor: 4.530

4.  Detection by Urinary GAG Testing of Mucopolysaccharidosis Type II in an At-Risk Spanish Population.

Authors:  Laura López-Marín; Luis G Gutiérrez-Solana; Luis Aldamiz-Echevarria Azuara; Rogelio Simón de Las Heras; Anna Duat Rodríguez; Verónica Cantarín Extremera
Journal:  JIMD Rep       Date:  2013-02-02

5.  SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency.

Authors:  Lars Schlotawa; Eva Charlotte Ennemann; Karthikeyan Radhakrishnan; Bernhard Schmidt; Anupam Chakrapani; Hans-Jürgen Christen; Hugo Moser; Beat Steinmann; Thomas Dierks; Jutta Gärtner
Journal:  Eur J Hum Genet       Date:  2011-01-12       Impact factor: 4.246

6.  Quantitative Proteome Analysis of Mouse Liver Lysosomes Provides Evidence for Mannose 6-phosphate-independent Targeting Mechanisms of Acid Hydrolases in Mucolipidosis II.

Authors:  Sandra Markmann; Svenja Krambeck; Christopher J Hughes; Mina Mirzaian; Johannes M F G Aerts; Paul Saftig; Michaela Schweizer; Johannes P C Vissers; Thomas Braulke; Markus Damme
Journal:  Mol Cell Proteomics       Date:  2017-01-06       Impact factor: 5.911

7.  Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II.

Authors:  Tomomi Kato; Zenichiro Kato; Izumi Kuratsubo; Noboru Tanaka; Tabito Ishigami; Jun-Ichi Kajihara; Kazuko Sukegawa-Hayasaka; Koji Orii; Koji Isogai; Toshiyuki Fukao; Nobuyuki Shimozawa; Tadao Orii; Naomi Kondo; Yasuyuki Suzuki
Journal:  J Hum Genet       Date:  2005-08-30       Impact factor: 3.172

8.  The characterization of a murine model of mucopolysaccharidosis II (Hunter syndrome).

Authors:  A R Garcia; J Pan; J C Lamsa; J Muenzer
Journal:  J Inherit Metab Dis       Date:  2007-09-16       Impact factor: 4.982

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.  Selective screening for lysosomal storage diseases with dried blood spots collected on filter paper in 4,700 high-risk colombian subjects.

Authors:  Alfredo Uribe; Roberto Giugliani
Journal:  JIMD Rep       Date:  2013-04-23
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