Literature DB >> 8127068

Applications of a new fluorimetric enzyme assay for the diagnosis of aspartylglucosaminuria.

J L Keulemans, W J Kleijer, P Aula, G R Gray, O P van Diggelen.   

Abstract

L-Aspartic acid-beta-7-amido-4-methylcoumarin is a sensitive and specific fluorogenic substrate for lysosomal glycoasparaginase (aspartylglucosaminidase). Fibroblasts and leukocytes from 8 patients with aspartylglucosaminuria, showed 1-7% of the mean normal glycoasparaginase activity. Heterozygotes showed intermediate activities. Glycoasparaginase activity in chorionic villi, cultured trophoblasts, cultured amniotic fluid cells and amniotic fluid was readily detectable, indicating that prenatal analysis of aspartylglucosaminuria should be possible with this assay. beta-Aspartyl-4-methylumbelliferone was synthesized but this potential substrate can not be used to assay glycoasparaginase since it hydrolyses spontaneously.

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Year:  1993        PMID： 8127068     DOI： 10.1007/bf00711507

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


  10 in total

1.  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

2.  Aspartylglycosaminuria. An inborn error of metabolism associated with mental defect.

Authors:  R J Pollitt; F A Jenner; H Merskey
Journal:  Lancet       Date:  1968-08-03       Impact factor: 79.321

3.  Eleven new cases of aspartylglucosaminuria.

Authors:  J Palo; K Mattsson
Journal:  J Ment Defic Res       Date:  1970-06

4.  Substrate specificity and reaction mechanism of human glycoasparaginase. The N-glycosidic linkage of various glycoasparagines is cleaved through a reaction mechanism similar to L-asparaginase.

Authors:  V Kaartinen; T Mononen; R Laatikainen; I Mononen
Journal:  J Biol Chem       Date:  1992-04-05       Impact factor: 5.157

5.  Enzymatic cleavage of glycopeptides.

Authors:  M Makino; T Kojima; I Yamashina
Journal:  Biochem Biophys Res Commun       Date:  1966-09-22       Impact factor: 3.575

6.  Detection of heterozygotes for aspartylglucosaminuria (AGU) in cultured fibroblasts.

Authors:  P Aula; S Autio; K Raivio; V Näntö
Journal:  Humangenetik       Date:  1974

7.  A fluorometric assay for glycosylasparaginase activity and detection of aspartylglycosaminuria.

Authors:  I T Mononen; V M Kaartinen; J C Williams
Journal:  Anal Biochem       Date:  1993-02-01       Impact factor: 3.365

8.  Prenatal diagnosis and fetal pathology of aspartylglucosaminuria.

Authors:  P Aula; J Rapola; H von Koskull; P Ammälä
Journal:  Am J Med Genet       Date:  1984-10

9.  Quantitative determination of 4-N-2-acetamido-2-deoxy-beta-D-glucopyranosyl-L-asparagine in the urine of patients with aspartylglycosaminuria by gas-liquid chromatography.

Authors:  P Maury
Journal:  J Lab Clin Med       Date:  1979-05

10.  Variation of urinary excretion of aspartylglucosamine and associated clinical findings in aspartyglucosaminuria.

Authors:  P Aula; K O Raivio; P Maury
Journal:  J Inherit Metab Dis       Date:  1980       Impact factor: 4.982
  10 in total
  2 in total

1.  Activatable Optical Probes for the Detection of Enzymes.

Authors:  Christopher R Drake; David C Miller; Ella F Jones
Journal:  Curr Org Synth       Date:  2011-08       Impact factor: 1.975

2.  Identification of Small Molecule Compounds for Pharmacological Chaperone Therapy of Aspartylglucosaminuria.

Authors:  Antje Banning; Christina Gülec; Juha Rouvinen; Steven J Gray; Ritva Tikkanen
Journal:  Sci Rep       Date:  2016-11-23       Impact factor: 4.379
  2 in total

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