Common G102S polymorphism in chitotriosidase differentially affects activity towards 4-methylumbelliferyl substrates

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Chitotriosidase Activity and Gene Polymorphism in Iranian Patients with Gaucher Disease and Sibling Carriers

OBJECTIVE Chitotriosidase (CT) activity is a useful biomarker for diagnosis and monitoring of Gaucher disease (GD). Its application is limited by some variants in the CT gene. Two main polymorphisms are 24 bp duplication and G102S led to reduce CT activity. The aim of this study was to determine these variants influencing on plasma CT activity. MATERIALS & METHODS Blood samples were collected...

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4-Methylumbelliferyl glycosides of N-acetyl 4-thiochito-oligosaccharides as fluorogenic substrates for chitodextrinase from Vibrio furnissii.

The degradation of chitin involves a diverse array of enzymes, some with overlapping substrate specificities. In order to distinguish between different types of enzymes, specific substrates are needed. Toward this end, two new fluorogenic substrates containing thio-glycosidic linkages, 4-methylumbelliferyl N,N'-diacetyl-4-thio-beta-chitobioside (Mu-TCB) and N,N',N"-triacetyl-4,4'-dithio-beta-ch...

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chitotriosidase activity and gene polymorphism in iranian patients with gaucher disease and sibling carriers

how to cite this article: mozafari h, taghikhani m, khatami sh, alaei mr, vaisi-raygani a, rahimi z. chitotriosidase activity and gene polymorphism in iranian patients with gaucher disease and sibling carriers. iran j child neurol. autumn 2016; 10(4):62-70. abstract objective chitotriosidase (ct) activity is a useful biomarker for diagnosis and monitoring of gaucher disease (gd). its applicatio...

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ژورنال

عنوان ژورنال: FEBS Journal

سال: 2009

ISSN: 1742-464X

DOI: 10.1111/j.1742-4658.2009.07259.x