Literature DB >> 8301642

The glucocerebrosidase locus in Gaucher's disease: molecular analysis of a lysosomal enzyme.

P K Mistry1, T M Cox.   

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Year:  1993        PMID： 8301642      PMCID： PMC1016594          DOI： 10.1136/jmg.30.11.889

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  41 in total

Review 1.  INBORN LYSOSOMAL DISEASES.

Authors:  H G HERS
Journal:  Gastroenterology       Date:  1965-05       Impact factor: 22.682

2.  Structural analysis of the human glucocerebrosidase genes.

Authors:  O Reiner; M Wigderson; M Horowitz
Journal:  DNA       Date:  1988-03

3.  Isolation and characterization of glucocerebrosidase from human placental tissue.

Authors:  P G Pentchev; R O Brady; S R Hibbert; A E Gal; D Shapiro
Journal:  J Biol Chem       Date:  1973-08-10       Impact factor: 5.157

4.  The human glucocerebrosidase gene and pseudogene: structure and evolution.

Authors:  M Horowitz; S Wilder; Z Horowitz; O Reiner; T Gelbart; E Beutler
Journal:  Genomics       Date:  1989-01       Impact factor: 5.736

5.  Identification of six new Gaucher disease mutations.

Authors:  E Beutler; T Gelbart; C West
Journal:  Genomics       Date:  1993-01       Impact factor: 5.736

6.  Gaucher's disease in the United Kingdom: screening non-Jewish patients for the two common mutations.

Authors:  A J Walley; M L Barth; I Ellis; A H Fensom; A Harris
Journal:  J Med Genet       Date:  1993-04       Impact factor: 6.318

7.  A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder.

Authors:  A Zimran; J Sorge; E Gross; M Kubitz; C West; E Beutler
Journal:  J Clin Invest       Date:  1990-01       Impact factor: 14.808

8.  Gaucher disease: heterologous expression of two alleles associated with neuronopathic phenotypes.

Authors:  M E Grace; A Berg; G S He; L Goldberg; M Horowitz; G A Grabowski
Journal:  Am J Hum Genet       Date:  1991-09       Impact factor: 11.025

9.  Genetic heterogeneity in Gaucher disease: physicokinetic and immunologic studies of the residual enzyme in cultured fibroblasts from non-neuronopathic and neuronopathic patients.

Authors:  G A Grabowski; J Goldblatt; T Dinur; J Kruse; L Svennerholm; S Gatt; R J Desnick
Journal:  Am J Med Genet       Date:  1985-07

10.  Human acid beta-glucosidase: isolation and amino acid sequence of a peptide containing the catalytic site.

Authors:  T Dinur; K M Osiecki; G Legler; S Gatt; R J Desnick; G A Grabowski
Journal:  Proc Natl Acad Sci U S A       Date:  1986-03       Impact factor: 11.205
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  4 in total

1.  Mutation analysis in 46 British and Irish patients with Gaucher's disease.

Authors:  C E Hatton; A Cooper; C Whitehouse; J E Wraith
Journal:  Arch Dis Child       Date:  1997-07       Impact factor: 3.791

2.  Characterization of glucocerebrosidase in Greek Gaucher disease patients: mutation analysis and biochemical studies.

Authors:  H Michelakakis; E Dimitriou; S Van Weely; R G Boot; I Mavridou; M Verhoek; J M Aerts
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

3.  Analysis of glucocerebrosidase activity using N-(1-[14C]hexanoyl)-D-erythroglucosylsphingosine demonstrates a correlation between levels of residual enzyme activity and the type of Gaucher disease.

Authors:  I Meivar-Levy; M Horowitz; A H Futerman
Journal:  Biochem J       Date:  1994-10-15       Impact factor: 3.857

4.  Activation of p38 Mitogen-Activated Protein Kinase in Gaucher's Disease.

Authors:  Kazuyuki Kitatani; Masayuki Wada; David Perry; Toshinori Usui; Ying Sun; Lina M Obeid; Nobuo Yaegashi; Gregory A Grabowski; Yusuf A Hannun
Journal:  PLoS One       Date:  2015-08-27       Impact factor: 3.240
  4 in total

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