Literature DB >> 21030589

Benefits from unearthing "a biochemical Rosetta Stone".

Roscoe O Brady1.   

Abstract

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Year:  2010        PMID： 21030589      PMCID： PMC3009847          DOI： 10.1074/jbc.X110.197954

Source DB:  PubMed          Journal:  J Biol Chem        ISSN： 0021-9258            Impact factor:   5.157


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  35 in total

1.  METABOLISM OF GLUCOCEREBROSIDES. II. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHER'S DISEASE.

Authors:  R O BRADY; J N KANFER; D SHAPIRO
Journal:  Biochem Biophys Res Commun       Date:  1965-01-18       Impact factor: 3.575

2.  Cerebroside synthesis in Gaucher's disease.

Authors:  E G TRAMS; R O BRADY
Journal:  J Clin Invest       Date:  1960-10       Impact factor: 14.808

3.  THE ENZYMATIC SYNTHESIS OF FATTY ACIDS BY ALDOL CONDENSATION.

Authors:  R O Brady
Journal:  Proc Natl Acad Sci U S A       Date:  1958-10-15       Impact factor: 11.205

4.  The synthesis of radioactive cholesterol and fatty acids in vitro.

Authors:  R O BRADY; S GURIN
Journal:  J Biol Chem       Date:  1951-03       Impact factor: 5.157

5.  In utero diagnosis of Niemann-Pick disease.

Authors:  C J Epstein; R O Brady; E L Schneider; R M Bradley; D Shapiro
Journal:  Am J Hum Genet       Date:  1971-09       Impact factor: 11.025

6.  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

7.  Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease.

Authors:  R O Brady; J N Kanfer; R M Bradley; D Shapiro
Journal:  J Clin Invest       Date:  1966-07       Impact factor: 14.808

8.  Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency.

Authors:  R O Brady; A E Gal; R M Bradley; E Martensson; A L Warshaw; L Laster
Journal:  N Engl J Med       Date:  1967-05-25       Impact factor: 91.245

9.  The sphingolipidoses.

Authors:  R O Brady
Journal:  N Engl J Med       Date:  1966-08-11       Impact factor: 91.245

10.  THE METABOLISM OF GLUCOCEREBROSIDES. I. PURIFICATION AND PROPERTIES OF A GLUCOCEREBROSIDE-CLEAVING ENZYME FROM SPLEEN TISSUE.

Authors:  R O BRADY; J KANFER; D SHAPIRO
Journal:  J Biol Chem       Date:  1965-01       Impact factor: 5.157
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  6 in total

1.  Aberrant progranulin, YKL-40, cathepsin D and cathepsin S in Gaucher disease.

Authors:  Yuliya Afinogenova; Jiapeng Ruan; Ruhua Yang; Nathaniel Kleytman; Gregory Pastores; Andrew Lischuk; Pramod K Mistry
Journal:  Mol Genet Metab       Date:  2019-07-23       Impact factor: 4.797

2.  Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease.

Authors:  Pramod K Mistry; Jun Liu; Li Sun; Wei-Lien Chuang; Tony Yuen; Ruhua Yang; Ping Lu; Kate Zhang; Jianhua Li; Joan Keutzer; Agnes Stachnik; Albert Mennone; James L Boyer; Dhanpat Jain; Roscoe O Brady; Maria I New; Mone Zaidi
Journal:  Proc Natl Acad Sci U S A       Date:  2014-03-17       Impact factor: 11.205

Review 3.  Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history.

Authors:  Hagit N Baris; Ian J Cohen; Pramod K Mistry
Journal:  Pediatr Endocrinol Rev       Date:  2014-09

4.  Pharmacotherapy of Gaucher Disease: Current and Future Options.

Authors:  Lunawati L Bennett; Chris Fellner
Journal:  P T       Date:  2018-05

Review 5.  Targeting Wolman Disease and Cholesteryl Ester Storage Disease: Disease Pathogenesis and Therapeutic Development.

Authors:  Francis Aguisanda; Natasha Thorne; Wei Zheng
Journal:  Curr Chem Genom Transl Med       Date:  2017-01-30

Review 6.  The cell biology of disease: lysosomal storage disorders: the cellular impact of lysosomal dysfunction.

Authors:  Frances M Platt; Barry Boland; Aarnoud C van der Spoel
Journal:  J Cell Biol       Date:  2012-11-26       Impact factor: 10.539
  6 in total

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