Literature DB >> 6889929

Gaucher type I (Ashkenazi) disease: a new method for heterozygote detection using a novel fluorescent natural substrate.

G A Grabowski, T Dinur, S Gatt, R J Desnick.   

Abstract

A new acid beta-glucosidase assay for the detection of heterozygotes for Gaucher Type I disease has been developed using isolated lymphocytes as enzyme source and a novel fluorescent natural substrate, NBD-glucosyl ceramide. The procedure for optimal heterozygote discrimination was established by systematic evaluation of the effect of various solubilization techniques, detergent concentrations, pH, enzyme sources and artificial vs. natural substrates. A pilot screening study indicated the feasible application of this assay for heterozygote detection in the high-risk Ashkenazi Jewish population.

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Year:  1982        PMID： 6889929     DOI： 10.1016/0009-8981(82)90326-6

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


  7 in total

1.  Microwave-assisted synthesis of near-infrared fluorescent sphingosine derivatives.

Authors:  Kumar R Bhushan; Fangbing Liu; Preeti Misra; John V Frangioni
Journal:  Chem Commun (Camb)       Date:  2008-07-28       Impact factor: 6.222

Review 2.  Type I Gaucher disease.

Authors:  J Goldblatt
Journal:  J Med Genet       Date:  1988-06       Impact factor: 6.318

3.  Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations.

Authors:  Roy N Alcalay; Oren A Levy; Cheryl C Waters; Stanley Fahn; Blair Ford; Sheng-Han Kuo; Pietro Mazzoni; Michael W Pauciulo; William C Nichols; Ziv Gan-Or; Guy A Rouleau; Wendy K Chung; Pavlina Wolf; Petra Oliva; Joan Keutzer; Karen Marder; Xiaokui Zhang
Journal:  Brain       Date:  2015-06-27       Impact factor: 13.501

4.  Gaucher disease: when molecular testing and clinical presentation disagree -the novel c.1226A>G(p.N370S)--RecNcil allele.

Authors:  Manisha Balwani; Marie E Grace; Robert J Desnick
Journal:  J Inherit Metab Dis       Date:  2011-03-23       Impact factor: 4.982

5.  First-trimester prenatal diagnosis of Tay-Sachs disease.

Authors:  G A Grabowski; J R Kruse; J D Goldberg; K Chockkalingam; R E Gordon; K J Blakemore; M J Mahoney; R J Desnick
Journal:  Am J Hum Genet       Date:  1984-11       Impact factor: 11.025

6.  Fluorescence assay of glucosylceramide glucosidase using NBD-cerebroside.

Authors:  A Abe; J A Shayman; N S Radin
Journal:  Lipids       Date:  1992-12       Impact factor: 1.880

7.  Gaucher disease: A G+1----A+1 IVS2 splice donor site mutation causing exon 2 skipping in the acid beta-glucosidase mRNA.

Authors:  G S He; G A Grabowski
Journal:  Am J Hum Genet       Date:  1992-10       Impact factor: 11.025
  7 in total

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