Literature DB >> 7389184

Sialidosis: delineation of subtypes by neuraminidase assay.

J S O'Brien, T G Warner.   

Abstract

A sensitive assay for acid neuraminidase using 4-methylumbelliferyl-alpha-D-N-acetylneuraminic acid is described. In skin fibroblasts, patients with sialidosis Types 1 and 2 have severe deficiencies of neuraminidase activity compared with controls. Patients with Type 1 sialidosis have activities which are 10 times higher than those with Type 2 sialidosis, in keeping with their milder clinical involvement. Two Italian patients with Type I sialidosis had a Km which was one-sixth normal; the other patients had a Km in the normal range.

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Year:  1980        PMID： 7389184     DOI： 10.1111/j.1399-0004.1980.tb00111.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  6 in total

1.  Normomorphic sialidosis in two female adults with severe neurologic disease and without sialyl oligosacchariduria.

Authors:  K Harzer; M Cantz; A C Sewell; S S Dhareshwar; W Roggendorf; R W Heckl; O Schofer; R Thumler; J Peiffer; W Schlote
Journal:  Hum Genet       Date:  1986-11       Impact factor: 4.132

2.  Hypomorphic sialidase expression decreases serum cholesterol by downregulation of VLDL production in mice.

Authors:  Abraham Yang; Gabriel Gyulay; Mark Mitchell; Elizabeth White; Bernardo L Trigatti; Suleiman A Igdoura
Journal:  J Lipid Res       Date:  2012-09-14       Impact factor: 5.922

3.  Ganglioside GM3 sialidase activity in fibroblasts of normal individuals and of patients with sialidosis and mucolipidosis IV. Subcellular distribution and and some properties.

Authors:  M Lieser; E Harms; H Kern; G Bach; M Cantz
Journal:  Biochem J       Date:  1989-05-15       Impact factor: 3.857

4.  Characteristics of the beta-galactosidase-carboxypeptidase complex in GM1-gangliosidosis and beta-galactosialidosis fibroblasts.

Authors:  R M D'Agrosa; M Hubbes; S Zhang; R Shankaran; J W Callahan
Journal:  Biochem J       Date:  1992-08-01       Impact factor: 3.857

5.  Human placental beta-galactosidase. Characterization of the dimer and complex forms of the enzyme.

Authors:  M Hubbes; R M D'Agrosa; J W Callahan
Journal:  Biochem J       Date:  1992-08-01       Impact factor: 3.857

6.  Colour Doppler imaging of intracranial vasculopathy in severe infantile sialidosis.

Authors:  M Ries; K H Deeg; D Wölfel; H Ibel; B Maier; G Buheitel
Journal:  Pediatr Radiol       Date:  1992
  6 in total

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