Literature DB >> 1145196

Lactosyl ceramidosis: normal activity for two lactosyl ceramide beta-galactosidases.

D A Wenger, M Sattler, C Clark, H Tanaka, K Suzuki, G Dawson.   

Abstract

Lactosyl ceramide beta-galactosidase activities in the fibroblasts from the previously described patient with so-called "lactosyl ceramidosis" were reexamined with the two recently developed assay methods which appear to measure two genetically distinct enzymes that can degrade this substrate. No deficiency of either of the lactosyl ceramide-cleaving enzymes was observed. In addition, sphingomyelinase activity was only one-sixth of normal, while all other enzymes examined were within the normal ranges.

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Year:  1975        PMID： 1145196     DOI： 10.1126/science.1145196

Source DB:  PubMed          Journal:  Science        ISSN： 0036-8075            Impact factor:   47.728


  11 in total

1.  Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.

Authors:  G Millat; C Marçais; C Tomasetto; K Chikh; A H Fensom; K Harzer; D A Wenger; K Ohno; M T Vanier
Journal:  Am J Hum Genet       Date:  2001-05-01       Impact factor: 11.025

Review 2.  Basic findings and current developments in sphingolipidoses.

Authors:  H Pilz; R Heipertz; D Seidel
Journal:  Hum Genet       Date:  1979-03-12       Impact factor: 4.132

3.  Regulation of liver cell ganglioside composition by extracellular fluid viscosity.

Authors:  S Yedgar; N Reisfeld-Granot; B A Sela
Journal:  Lipids       Date:  1986-10       Impact factor: 1.880

Review 4.  Glycosphingolipid hydrolases: properties and molecular genetics.

Authors:  M Wan Ho; A G Norden; J A Alhadeff; J S O'Brien
Journal:  Mol Cell Biochem       Date:  1977-10-07       Impact factor: 3.396

Review 5.  Progress in investigations of sphingolipidoses.

Authors:  M Adachi; L Schneck; B W Volk
Journal:  Acta Neuropathol       Date:  1978-08-07       Impact factor: 17.088

6.  Purified human liver acid beta-D-galactosidases possessing activity towards G(M1)-ganglioside and lactosylceramide.

Authors:  A L Miller; R G Frost; J S O'Brien
Journal:  Biochem J       Date:  1977-09-01       Impact factor: 3.857

7.  Changes in cytoplasmic and lysosomal enzyme activities in cultured rat heart cells: the relationship to cell differentiation and cell population in culture.

Authors:  S Yagev; M Heller; A Pinson
Journal:  In Vitro       Date:  1984-12

8.  Niemann-Pick disease type C with enhanced glycolipid storage. Report on further case of so-called lactosylceramidosis.

Authors:  M Elleder; A Jirásek; F Smíd; J Ledvinová; G T Besley; M Stopeková
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1984

9.  Niemann-Pick disease type C. Study on the nature of the cerebral storage process.

Authors:  M Elleder; A Jirásek; F Smíd; J Ledvinová; G T Besley
Journal:  Acta Neuropathol       Date:  1985       Impact factor: 17.088

10.  Genetic linkage studies of the human glycosphingolipid beta-galactosidases.

Authors:  A R Rushton; G Dawson
Journal:  Biochem Genet       Date:  1977-12       Impact factor: 1.890
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