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

Diggelen, O. P. van; Zhao, H.; Kleijer, Wim J.; Janse, H.C.; Poorthuis, B. J. H. M.; Pelt, Johannes van; Kamerling, J.P.; Galjaard, H.

doi:10.1016/0009-8981(90)90339-t

Cited by 142 publications

(112 citation statements)

References 11 publications

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“…The GALNS activity was then inhibited by addition of 25 l of 2 M sodium phosphate buffer, pH 4.75, and the mixture was supplemented with 0.5 g (15-20 milliunits of GAL activity) of purified 680-kDa GAL⅐CathA lysosomal complex from human placenta (13). This reaction mixture was incubated further for 2 h at 37°C to convert all the Muf-Gal liberated during the first incubation into Muf (18). The reaction was terminated by the addition of 1.85 ml of 0.4 M glycine buffer, pH 10.5, and the concentration of Muf was assayed fluorometrically.…”

mentioning

confidence: 99%

Association of N-Acetylgalactosamine-6-sulfate Sulfatase with the Multienzyme Lysosomal Complex of β-Galactosidase, Cathepsin A, and Neuraminidase

Pshezhetsky

Potier

1996

Journal of Biological Chemistry

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N-Acetylgalactosamine-6-sulfate sulfatase (GALNS) catalyzes the first step of intralysosomal keratan sulfate (KS) catabolism. In Morquio type A syndrome GALNS deficiency causes the accumulation of KS in tissues and results in generalized skeletal dysplasia in affected patients. We show that in normal cells GALNS is in a 1.27-MDa complex with three other lysosomal hydrolases: ␤-galactosidase, ␣-neuraminidase, and cathepsin A (protective protein). GALNS copurifies with the complex by different chromatography techniques: affinity chromatography on both cathepsin A-binding and ␤-galactosidase-binding columns, gel filtration, and chromatofocusing. Anti-human cathepsin A rabbit antiserum coprecipitates GALNS together with cathepsin A, ␤-galactosidase, and ␣-neuraminidase in both a purified preparation of the 1.27-MDa complex and crude glycoprotein fraction from human placenta extract. Gel filtration analysis of fibroblast extracts of patients deficient in either ␤-galactosidase (␤-galactosidosis) or cathepsin A (galactosialidosis), which accumulate KS, demonstrates that the 1.27-MDa complex is disrupted and that GALNS is present only in free homodimeric form. The GALNS activity and cross-reacting material are reduced in the fibroblasts of patients affected with galactosialidosis, indicating that the complex with cathepsin A may protect GALNS in the lysosome. We suggest that the 1.27-MDa complex of lysosomal hydrolases is essential for KS catabolism and that the disruption of this complex may be responsible for the KS accumulation in ␤-galactosidosis and galactosialidosis patients.

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mentioning

confidence: 99%

Association of N-Acetylgalactosamine-6-sulfate Sulfatase with the Multienzyme Lysosomal Complex of β-Galactosidase, Cathepsin A, and Neuraminidase

Pshezhetsky

Potier

1996

Journal of Biological Chemistry

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“…Deficiency of GALNS enzyme activity was confirmed on fibroblasts by the fluorogenic method previously reported by Van Diggelen et al [13].…”

Section: Patientsmentioning

confidence: 59%

GALNS gene expression profiling in Morquio A patients' fibroblasts

Carraresi

Parini

Filoni

et al. 2008

Clinica Chimica Acta

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“…GALNS enzyme activity was assayed by using 4-methylumbelliferyl-β-D-galactopyranoside-6-sulfate as a substrate (Moscerdam Substrate, Rotterdam, The Netherlands). The enzyme assay was performed with two steps as described previously (45).…”

Section: Galns Distribution In Mps Iva Newborn Micementioning

confidence: 99%

“…Liquid chromatography tandem mass spectrometry (LC-MS/MS) method was used for the analysis of the disaccharides produced from KS digestion (45,46). API-4,000 mass spectrometer equipped with a turbo ionspray was used (Applied Biosystems, Foster City, CA).…”

Section: Ks Assaymentioning

confidence: 99%

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

Tomatsu¹,

Montaño²,

Oikawa³

et al. 2014

Molecular Genetics and Metabolism

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

Cited by 142 publications

References 11 publications

Association of N-Acetylgalactosamine-6-sulfate Sulfatase with the Multienzyme Lysosomal Complex of β-Galactosidase, Cathepsin A, and Neuraminidase

Association of N-Acetylgalactosamine-6-sulfate Sulfatase with the Multienzyme Lysosomal Complex of β-Galactosidase, Cathepsin A, and Neuraminidase

GALNS gene expression profiling in Morquio A patients' fibroblasts

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

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