Literature DB >> 4083278

Glucocerebrosidase "processing" and gene expression in various forms of Gaucher disease.

E Beutler, W Kuhl, J Sorge.   

Abstract

Immunoblots were prepared using extracts of fibroblasts derived from five controls and from four unrelated patients with type I, three with type II, and two with type III Gaucher disease. Five monoclonal antisera and two rabbit sera, crude and affinity purified, were utilized to detect antigen transferred to nitrocellulose paper. Only a band of 63,000 molecular weight (Mr) was consistently detected. We found no 56-K band either in normal or in Gaucher disease fibroblast extracts. Thus, using a variety of antisera, we are unable to verify the claim that the types of Gaucher disease can be differentiated from one another by immunoblotting.

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Year:  1985        PMID: 4083278      PMCID: PMC1684731     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


  13 in total

1.  Protein measurement with the Folin phenol reagent.

Authors:  O H LOWRY; N J ROSEBROUGH; A L FARR; R J RANDALL
Journal:  J Biol Chem       Date:  1951-11       Impact factor: 5.157

2.  Gaucher's disease in an asymptomatic 72-year-old.

Authors:  E Beutler
Journal:  JAMA       Date:  1977-06-06       Impact factor: 56.272

3.  Beta-glucosidase activity in fibroblasts from homozygotes and heterozygotes for Gaucher's disease.

Authors:  E Beutler; W Kuhl; F Trinidad; R Teplitz; H Nadler
Journal:  Am J Hum Genet       Date:  1971-01       Impact factor: 11.025

4.  Monoclonal antibodies against human beta-glucocerebrosidase.

Authors:  R A Barneveld; F P Tegelaers; E I Ginns; P Visser; E A Laanen; R O Brady; H Galjaard; J A Barranger; A J Reuser; J M Tager
Journal:  Eur J Biochem       Date:  1983-08-15

5.  Complementation analysis in Gaucher disease using single cell microassay techniques. Evidence for a single "Gaucher gene".

Authors:  R A Gravel; A Leung
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

6.  Large scale purification of glucocerebrosidase from human placentas.

Authors:  G L Dale; E Beutler; P Fournier; P Blanc; J Liautaud
Journal:  Birth Defects Orig Artic Ser       Date:  1980

7.  Acute neuronopathic (infantile) and chronic nonneuronopathic (adult) Gaucher disease in full siblings.

Authors:  D A Wenger; S Roth; M Sattler
Journal:  J Pediatr       Date:  1982-02       Impact factor: 4.406

8.  Determination of Gaucher's disease phenotypes with monoclonal antibody.

Authors:  E I Ginns; F P Tegelaers; R Barneveld; H Galjaard; A J Reuser; R O Brady; J M Tager; J A Barranger
Journal:  Clin Chim Acta       Date:  1983-07-15       Impact factor: 3.786

9.  Enzyme replacement therapy in Gaucher's disease: a rapid, high-yield method for purification of glucocerebrosidase.

Authors:  G L Dale; E Beutler
Journal:  Proc Natl Acad Sci U S A       Date:  1976-12       Impact factor: 11.205

10.  Enzyme replacement therapy in Gaucher's disease: large-scale purification of glucocerebrosidase suitable for human administration.

Authors:  F S Furbish; H E Blair; J Shiloach; P G Pentchev; R O Brady
Journal:  Proc Natl Acad Sci U S A       Date:  1977-08       Impact factor: 11.205

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  2 in total

1.  Glucocerebrosidase processing in normal fibroblasts and in fibroblasts from patients with type I, type II, and type III Gaucher disease.

Authors:  E Beutler; W Kuhl
Journal:  Proc Natl Acad Sci U S A       Date:  1986-10       Impact factor: 11.205

2.  Non-existence of a tight association between a 444leucine to proline mutation and phenotypes of Gaucher disease: high frequency of a NciI polymorphism in the non-neuronopathic form.

Authors:  M Masuno; S Tomatsu; K Sukegawa; T Orii
Journal:  Hum Genet       Date:  1990-01       Impact factor: 4.132

  2 in total

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