Beth L Thurberg
Affiliation: Genzyme Corporation
- Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapyBeth L Thurberg
Department of Pathology, Genzyme Corporation, Cambridge, Massachusetts, USA
Kidney Int 62:1933-46. 2002....
- Mice with elevated muscle glycogen stores do not have improved exercise performanceBartholomew 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...
- 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...
- Histologic abnormalities of placental tissues in Fabry disease: a case report and review of the literatureBeth 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...
- Monitoring the 3-year efficacy of enzyme replacement therapy in fabry disease by repeated skin biopsiesBeth L Thurberg
Department of Pathology, Genzyme Corporation, Cambridge, Massachusetts 01701 9322, USA
J Invest Dermatol 122:900-8. 2004....
- Cardiac microvascular pathology in Fabry disease: evaluation of endomyocardial biopsies before and after enzyme replacement therapyBeth 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...
- Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe diseaseBeth 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...
- Carbohydrate-remodelled acid alpha-glucosidase with higher affinity for the cation-independent mannose 6-phosphate receptor demonstrates improved delivery to muscles of Pompe miceYunxiang 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...
- Optimization of a histopathological biomarker for sphingomyelin accumulation in acid sphingomyelinase deficiencyTatyana 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...
- Pulmonary delivery of recombinant acid sphingomyelinase improves clearance of lysosomal sphingomyelin from the lungs of a murine model of Niemann-Pick diseaseRobin 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...
- Differential muscular glycogen clearance after enzyme replacement therapy in a mouse model of Pompe diseaseMichael 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...
- Optimized preservation of CNS morphology for the identification of glycogen in the Pompe mouse modelTatyana 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...
- Use of direct fluorescence labeling and confocal microscopy to determine the biodistribution of two protein therapeutics, Cerezyme and CeredasePeter 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...
- Biotherapeutic target or sink: analysis of the macrophage mannose receptor tissue distribution in murine models of lysosomal storage diseasesXin Sheen Zhang
Department of Pathology, Genzyme Corporation, 5 The Mountain Road, Framingham, MA 01701, USA
J Inherit Metab Dis 34:795-809. 2011....
- High-resolution light microscopy (HRLM) and digital analysis of Pompe disease pathologyColleen 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...
- Endosialin protein expression and therapeutic target potential in human solid tumors: sarcoma versus carcinomaCecile 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...
- Homeostatic role of transforming growth factor-beta in the oral cavity and esophagus of mice and its expression by mast cells in these tissuesAllison 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...
- Conjugation of mannose 6-phosphate-containing oligosaccharides to acid alpha-glucosidase improves the clearance of glycogen in pompe miceYunxiang 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...
- Exercise capacity of mice genetically lacking muscle glycogen synthase: in mice, muscle glycogen is not essential for exerciseBartholomew 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...
- Temporal neuropathologic and behavioral phenotype of 6neo/6neo Pompe disease miceRichard 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...
- Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibersNina 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...
- Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe diseasePriya 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...