Literature DB >> 8411983

Pathogenesis of lysosomal storage disorders as illustrated by Gaucher disease.

J M Aerts1, S Van Weely, R Boot, C E Hollak, J M Tager.   

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Year:  1993        PMID： 8411983     DOI： 10.1007/bf00710267

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  23 in total

Review 1.  Gaucher disease: new molecular approaches to diagnosis and treatment.

Authors:  E Beutler
Journal:  Science       Date:  1992-05-08       Impact factor: 47.728

2.  Gene mapping and leader polypeptide sequence of human glucocerebrosidase: implications for Gaucher disease.

Authors:  E I Ginns; P V Choudary; S Tsuji; B Martin; B Stubblefield; J Sawyer; J Hozier; J A Barranger
Journal:  Proc Natl Acad Sci U S A       Date:  1985-10       Impact factor: 11.205

3.  Biosynthesis and maturation of glucocerebrosidase in Gaucher fibroblasts.

Authors:  L M Jonsson; G J Murray; S H Sorrell; A Strijland; J F Aerts; E I Ginns; J A Barranger; J M Tager; A W Schram
Journal:  Eur J Biochem       Date:  1987-04-01

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.  Conditions affecting the activity of glucocerebrosidase purified from spleens of control subjects and patients with type 1 Gaucher disease.

Authors:  J M Aerts; M C Sa Miranda; E M Brouwer-Kelder; S Van Weely; J A Barranger; J M Tager
Journal:  Biochim Biophys Acta       Date:  1990-10-18

6.  Characterization of human glucocerebrosidase from different mutant alleles.

Authors:  T Ohashi; C M Hong; S Weiler; J M Tomich; J M Aerts; J M Tager; J A Barranger
Journal:  J Biol Chem       Date:  1991-02-25       Impact factor: 5.157

7.  Lysosphingolipids inhibit protein kinase C: implications for the sphingolipidoses.

Authors:  Y A Hannun; R M Bell
Journal:  Science       Date:  1987-02-06       Impact factor: 47.728

8.  Ceramide is a competitive inhibitor of diacylglycerol kinase in vitro and in intact human leukemia (HL-60) cells.

Authors:  A Younes; D W Kahn; J M Besterman; R Bittman; H S Byun; R N Kolesnick
Journal:  J Biol Chem       Date:  1992-01-15       Impact factor: 5.157

9.  Ceramide stimulates a cytosolic protein phosphatase.

Authors:  R T Dobrowsky; Y A Hannun
Journal:  J Biol Chem       Date:  1992-03-15       Impact factor: 5.157

10.  Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene.

Authors:  N Dahl; M Lagerström; A Erikson; U Pettersson
Journal:  Am J Hum Genet       Date:  1990-08       Impact factor: 11.025
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  5 in total

1.  Substrate reduction therapy of glycosphingolipid storage disorders.

Authors:  Johannes M F G Aerts; Carla E M Hollak; Rolf G Boot; Johanna E M Groener; Mario Maas
Journal:  J Inherit Metab Dis       Date:  2006 Apr-Jun       Impact factor: 4.982

2.  A case of type I Gaucher disease with cardiopulmonary amyloidosis and chitotriosidase deficiency.

Authors:  M Hrebícek; J Zeman; J Musilová; K Hodanová; G H Renkema; L Vepreková; J Ledvinová; D Hrebícek; J Sokolová; J M Aerts; M Elleder
Journal:  Virchows Arch       Date:  1996-11       Impact factor: 4.064

3.  Oligosaccharide excretion in adult Gaucher disease.

Authors:  J G de Jong; J M Aerts; S van Weely; C E Hollak; J van Pelt; L M van Woerkom; M L Liebrand-van Sambeek; R A Wevers
Journal:  J Inherit Metab Dis       Date:  1998-02       Impact factor: 4.982

Review 4.  Biochemistry of glycosphingolipid storage disorders: implications for therapeutic intervention.

Authors:  Johannes M Aerts; Carla Hollak; Rolf Boot; Ans Groener
Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  2003-05-29       Impact factor: 6.237

Review 5.  Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies.

Authors:  Johannes M F G Aerts; Wouter W Kallemeijn; Wouter Wegdam; Maria Joao Ferraz; Marielle J van Breemen; Nick Dekker; Gertjan Kramer; Ben J Poorthuis; Johanna E M Groener; Josanne Cox-Brinkman; Saskia M Rombach; Carla E M Hollak; Gabor E Linthorst; Martin D Witte; Henrik Gold; Gijs A van der Marel; Herman S Overkleeft; Rolf G Boot
Journal:  J Inherit Metab Dis       Date:  2011-03-29       Impact factor: 4.982
  5 in total

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