Beth L Thurberg

Summary

Affiliation: Genzyme Corporation
Country: USA

Publications

  1. ncbi request reprint Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy
    Beth L Thurberg
    Department of Pathology, Genzyme Corporation, Cambridge, Massachusetts, USA
    Kidney Int 62:1933-46. 2002
  2. ncbi request reprint Mice with elevated muscle glycogen stores do not have improved exercise performance
    Bartholomew A Pederson
    Department of Biochemistry and Molecular Biology and Center for Diabetes Research, Indiana University School of Medicine, Indianapolis, IN 46202 5122, USA
    Biochem Biophys Res Commun 331:491-6. 2005
  3. pmc Liver and skin histopathology in adults with acid sphingomyelinase deficiency (Niemann-Pick disease type B)
    Beth L Thurberg
    Department of Pathology, Genzyme Corporation, Framingham, MA 01701, USA
    Am J Surg Pathol 36:1234-46. 2012
  4. doi request reprint Histologic abnormalities of placental tissues in Fabry disease: a case report and review of the literature
    Beth L Thurberg
    Department of Pathology, Genzyme Corporation, Framingham, MA 01701 9322, USA
    Hum Pathol 43:610-4. 2012
  5. ncbi request reprint Monitoring the 3-year efficacy of enzyme replacement therapy in fabry disease by repeated skin biopsies
    Beth L Thurberg
    Department of Pathology, Genzyme Corporation, Cambridge, Massachusetts 01701 9322, USA
    J Invest Dermatol 122:900-8. 2004
  6. doi request reprint Cardiac microvascular pathology in Fabry disease: evaluation of endomyocardial biopsies before and after enzyme replacement therapy
    Beth L Thurberg
    Department of Pathology, Genzyme Corporation, Cambridge, MA, USA
    Circulation 119:2561-7. 2009
  7. ncbi request reprint Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease
    Beth L Thurberg
    Department of Pathology, Genzyme Corporation, Framingham, MA 01701 9322, USA
    Lab Invest 86:1208-20. 2006
  8. pmc Carbohydrate-remodelled acid alpha-glucosidase with higher affinity for the cation-independent mannose 6-phosphate receptor demonstrates improved delivery to muscles of Pompe mice
    Yunxiang Zhu
    Genzyme Corporation, 31 New York Avenue, Framingham, MA 01701 9322, USA
    Biochem J 389:619-28. 2005
  9. pmc Optimization of a histopathological biomarker for sphingomyelin accumulation in acid sphingomyelinase deficiency
    Tatyana V Taksir
    Department of Pathology, Genzyme, a Sanofi Company, Framingham, MA 01701, USA
    J Histochem Cytochem 60:620-9. 2012
  10. doi request reprint Pulmonary delivery of recombinant acid sphingomyelinase improves clearance of lysosomal sphingomyelin from the lungs of a murine model of Niemann-Pick disease
    Robin J Ziegler
    Genzyme Corporation, 49 New York Avenue, Framingham, MA 01701 9322, USA
    Mol Genet Metab 97:35-42. 2009

Collaborators

Detail Information

Publications22

  1. ncbi request reprint Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy
    Beth L Thurberg
    Department of Pathology, Genzyme Corporation, Cambridge, Massachusetts, USA
    Kidney Int 62:1933-46. 2002
    ..With the advent of recombinant protein synthesis technology, enzyme replacement therapy has become a viable alternative to dialysis or renal transplantation, previously the only available treatment options for end-stage renal disease...
  2. ncbi request reprint Mice with elevated muscle glycogen stores do not have improved exercise performance
    Bartholomew A Pederson
    Department of Biochemistry and Molecular Biology and Center for Diabetes Research, Indiana University School of Medicine, Indianapolis, IN 46202 5122, USA
    Biochem Biophys Res Commun 331:491-6. 2005
    ..This result suggests that increased muscle glycogen stores do not necessarily improve exercise performance in mice...
  3. pmc Liver and skin histopathology in adults with acid sphingomyelinase deficiency (Niemann-Pick disease type B)
    Beth L Thurberg
    Department of Pathology, Genzyme Corporation, Framingham, MA 01701, USA
    Am J Surg Pathol 36:1234-46. 2012
    ..This phase 1 trial of rhASM in adults with ASMD provided a unique opportunity for a prospective assessment of hepatic and skin pathology in this rare disease and their potential usage as pharmacodynamic biomarkers...
  4. doi request reprint Histologic abnormalities of placental tissues in Fabry disease: a case report and review of the literature
    Beth L Thurberg
    Department of Pathology, Genzyme Corporation, Framingham, MA 01701 9322, USA
    Hum Pathol 43:610-4. 2012
    ..Because of the small numbers of cases described in the literature for comparison, it remains unclear if placental tissues are also targeted by enzyme replacement therapy...
  5. ncbi request reprint Monitoring the 3-year efficacy of enzyme replacement therapy in fabry disease by repeated skin biopsies
    Beth L Thurberg
    Department of Pathology, Genzyme Corporation, Cambridge, Massachusetts 01701 9322, USA
    J Invest Dermatol 122:900-8. 2004
    ....
  6. doi request reprint Cardiac microvascular pathology in Fabry disease: evaluation of endomyocardial biopsies before and after enzyme replacement therapy
    Beth L Thurberg
    Department of Pathology, Genzyme Corporation, Cambridge, MA, USA
    Circulation 119:2561-7. 2009
    ..These disturbances are caused by globotriaosylceramide (GL-3) accumulation in the heart resulting from lysosomal alpha-galactosidase A deficiency...
  7. ncbi request reprint Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease
    Beth L Thurberg
    Department of Pathology, Genzyme Corporation, Framingham, MA 01701 9322, USA
    Lab Invest 86:1208-20. 2006
    ..As enzyme replacement therapy becomes more prevalent for the treatment of lysosomal storage diseases, such evaluation of post-treatment pathology will likely become a more common occurrence in the daily practice of pathologists...
  8. pmc Carbohydrate-remodelled acid alpha-glucosidase with higher affinity for the cation-independent mannose 6-phosphate receptor demonstrates improved delivery to muscles of Pompe mice
    Yunxiang Zhu
    Genzyme Corporation, 31 New York Avenue, Framingham, MA 01701 9322, USA
    Biochem J 389:619-28. 2005
    ..These results demonstrate that remodelling the carbohydrate of rhGAA to improve its affinity for the CI-MPR represents a feasible approach to enhance the efficacy of enzyme replacement therapy for Pompe disease...
  9. pmc Optimization of a histopathological biomarker for sphingomyelin accumulation in acid sphingomyelinase deficiency
    Tatyana V Taksir
    Department of Pathology, Genzyme, a Sanofi Company, Framingham, MA 01701, USA
    J Histochem Cytochem 60:620-9. 2012
    ..Finally, ultrathin serial sections can be cut from these same tissue blocks and stained for ultrastructural examination by electron microscopy...
  10. doi request reprint Pulmonary delivery of recombinant acid sphingomyelinase improves clearance of lysosomal sphingomyelin from the lungs of a murine model of Niemann-Pick disease
    Robin J Ziegler
    Genzyme Corporation, 49 New York Avenue, Framingham, MA 01701 9322, USA
    Mol Genet Metab 97:35-42. 2009
    ..Hence, pulmonary administration of rhASM may represent an alternative route of delivery to address the visceral pathology associated with ASM deficiency...
  11. ncbi request reprint Differential muscular glycogen clearance after enzyme replacement therapy in a mouse model of Pompe disease
    Michael L Hawes
    Department of Pathology, Genzyme Corporation, 1 Mountain Rd, P O Box 9322, Framingham, MA 01701 9322, USA
    Mol Genet Metab 91:343-51. 2007
    ..55), suggesting that at the high doses used in this study the differential glycogen clearance observed between muscles is largely due to differential bioavailability of rhGAA regulated by blood flow...
  12. ncbi request reprint Optimized preservation of CNS morphology for the identification of glycogen in the Pompe mouse model
    Tatyana V Taksir
    Department of Pathology, Genzyme Corporation, One Mountain Road, Framingham, MA 01701 9322, USA
    J Histochem Cytochem 55:991-8. 2007
    ..The modified paraffin method with periodic acid postfixation resulted in improved tissue morphology and glycogen preservation. Both techniques provide accurate anatomic evaluation of the glycogen distribution in Pompe mouse brain...
  13. doi request reprint Use of direct fluorescence labeling and confocal microscopy to determine the biodistribution of two protein therapeutics, Cerezyme and Ceredase
    Peter A Piepenhagen
    Department of Pathology, Genzyme Corporation, Framingham, Massachusetts 01701 9322, USA
    Microsc Res Tech 73:694-703. 2010
    ..This approach provides an easy and straightforward means of assessing the tissue and cell type-specific biodistribution of multiple protein therapeutics in target organs using a minimal number of animals...
  14. doi request reprint Biotherapeutic target or sink: analysis of the macrophage mannose receptor tissue distribution in murine models of lysosomal storage diseases
    Xin Sheen Zhang
    Department of Pathology, Genzyme Corporation, 5 The Mountain Road, Framingham, MA 01701, USA
    J Inherit Metab Dis 34:795-809. 2011
    ....
  15. ncbi request reprint High-resolution light microscopy (HRLM) and digital analysis of Pompe disease pathology
    Colleen M Lynch
    Department of Pathology, Genzyme Corporation, One Mountain Road, Framingham, MA 01701 9322, USA
    J Histochem Cytochem 53:63-73. 2005
    ..Combining this method of tissue fixation with computer-assisted histomorphometry has provided us with what we believe is the most objective and reproducible means of evaluating histological glycogen load in Pompe disease...
  16. doi request reprint Endosialin protein expression and therapeutic target potential in human solid tumors: sarcoma versus carcinoma
    Cecile Rouleau
    Genzyme Corporation, Framingham, Massachusetts 01701, USA
    Clin Cancer Res 14:7223-36. 2008
    ..Endosialin/CD248/tumor endothelial marker 1 is expressed in stromal cells, endothelial cells, and pericytes in various tumors; however, few studies have focused on expression in malignant cells...
  17. pmc Homeostatic role of transforming growth factor-beta in the oral cavity and esophagus of mice and its expression by mast cells in these tissues
    Allison Vitsky
    Genzyme Corporation, 1 The Mountain Rd, Framingham, MA 01701 9322, USA
    Am J Pathol 174:2137-49. 2009
    ..These studies illustrate a previously unappreciated biological role of TGF-beta in maintaining homeostasis within both oral and esophageal tissues...
  18. ncbi request reprint Conjugation of mannose 6-phosphate-containing oligosaccharides to acid alpha-glucosidase improves the clearance of glycogen in pompe mice
    Yunxiang Zhu
    Genzyme Corporation, Framingham, Massachusetts 01701 9322, USA
    J Biol Chem 279:50336-41. 2004
    ..Hence, the generation of rhGAA containing high affinity ligands for the CI-MPR represents a strategy by which the potency of rhGAA and therefore the clinical efficacy of enzyme replacement therapy for Pompe disease may be improved...
  19. ncbi request reprint Exercise capacity of mice genetically lacking muscle glycogen synthase: in mice, muscle glycogen is not essential for exercise
    Bartholomew A Pederson
    Department of Biochemistry and Molecular Biology and Indiana University Center for Diabetes Research, Indiana University School of Medicine, Indianapolis, Indiana 46202 5122, USA
    J Biol Chem 280:17260-5. 2005
    ..These studies provide genetic evidence that in mice muscle glycogen is not essential for strenuous exercise and has relatively little effect on endurance...
  20. pmc Temporal neuropathologic and behavioral phenotype of 6neo/6neo Pompe disease mice
    Richard L Sidman
    Department of Neurology RLS, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA
    J Neuropathol Exp Neurol 67:803-18. 2008
    ..A better understanding of the basis for clinical manifestations is needed to correlate CNS pathology with Pompe disease manifestations...
  21. ncbi request reprint Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers
    Nina Raben
    Arthritis and Rheumatism Branch, NIAMS, National Institutes of Health, 9000 Rockville Pike, Building 10 9N244, Bethesda, MD 20892, USA
    Mol Ther 11:48-56. 2005
    ..Low abundance of proteins involved in endocytosis and trafficking of lysosomal enzymes combined with increased autophagy in type II fibers may explain the resistance to therapy...
  22. pmc Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease
    Priya Sunil Kishnani
    Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA
    J Pediatr 149:89-97. 2006
    ..To conduct an open-label, multinational, multicenter study examining the safety and efficacy of recombinant human acid alpha-glucosidase (rhGAA) in treatment of infantile-onset Pompe disease...