Gregory Grabowski

Summary

Affiliation: Cincinnati Children's Hospital Medical Center
Country: USA

Publications

  1. pmc Neurological deficits and glycosphingolipid accumulation in saposin B deficient mice
    Ying Sun
    Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229 3039, USA
    Hum Mol Genet 17:2345-56. 2008
  2. pmc Comparative therapeutic effects of velaglucerase alfa and imiglucerase in a Gaucher disease mouse model
    You Hai Xu
    Division of Human Genetics, Cincinnati Children s Hospital Research Foundation, Cincinnati, Ohio, USA
    PLoS ONE 5:e10750. 2010
  3. pmc Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits
    Ying Sun
    The Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229 3039, USA
    Hum Mol Genet 19:1088-97. 2010
  4. pmc Specific saposin C deficiency: CNS impairment and acid beta-glucosidase effects in the mouse
    Ying Sun
    Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, OH, USA
    Hum Mol Genet 19:634-47. 2010
  5. pmc Substrate compositional variation with tissue/region and Gba1 mutations in mouse models--implications for Gaucher disease
    Ying Sun
    Division of Human Genetics, University of Cincinnati College of Medicine, Cincinnati, Ohio, United States of America
    PLoS ONE 8:e57560. 2013
  6. pmc Isofagomine in vivo effects in a neuronopathic Gaucher disease mouse
    Ying Sun
    The Division of Human Genetics, University of Cincinnati College of Medicine, Cincinnati, Ohio, United States of America
    PLoS ONE 6:e19037. 2011
  7. pmc Gaucher disease: transcriptome analyses using microarray or mRNA sequencing in a Gba1 mutant mouse model treated with velaglucerase alfa or imiglucerase
    Nupur Dasgupta
    The Division of Human Genetics, Cincinnati Children s Hospital Research Foundation, Cincinnati, Ohio, United States of America
    PLoS ONE 8:e74912. 2013
  8. doi request reprint Gaucher disease and other storage disorders
    Gregory A Grabowski
    Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229 3039, USA
    Hematology Am Soc Hematol Educ Program 2012:13-8. 2012
  9. pmc Comparison of measures of marker informativeness for ancestry and admixture mapping
    Lili Ding
    Cincinnati Children s Hospital Medical Center, Department of Pediatrics, University of Cincinnati, Cincinnati, OH, USA
    BMC Genomics 12:622. 2011
  10. pmc Temporal gene expression profiling reveals CEBPD as a candidate regulator of brain disease in prosaposin deficient mice
    Ying Sun
    Division of Human Genetics, Cincinnati Children s Hospital Medical Center, 3333 Burnet Avenue, MLC 4006, Cincinnati, OH, USA
    BMC Neurosci 9:76. 2008

Research Grants

  1. PROSAPOSINS PHYSIOLOGIC ROLE
    Gregory Grabowski; Fiscal Year: 1999
  2. Studies of Prosaposin's Physiologic Role
    Gregory Grabowski; Fiscal Year: 2007
  3. GAUCHER DISEASE--A PROTOTYPE LIPIDOSIS
    Gregory Grabowski; Fiscal Year: 1992
  4. GAUCHER DISEASE
    Gregory Grabowski; Fiscal Year: 2000
  5. PROSAPOSINS PHYSIOLOGIC ROLE
    Gregory Grabowski; Fiscal Year: 1999
  6. Studies of Prosaposin's Physiologic Role
    Gregory Grabowski; Fiscal Year: 2006
  7. STUDIES OF GAUCHER DISEASE: A PROTOTYPE LIPIDOSIS
    Gregory Grabowski; Fiscal Year: 2001
  8. STUDIES OF GAUCHER DISEASE: A PROTOTYPE LIPIDOSIS
    Gregory A Grabowski; Fiscal Year: 2010
  9. STUDIES OF GAUCHER DISEASE: A PROTOTYPE LIPIDOSIS
    Gregory Grabowski; Fiscal Year: 2009
  10. INBORN ERRORS OF SPHINGOLIPID CATABOLISM
    Gregory Grabowski; Fiscal Year: 2004

Collaborators

Detail Information

Publications60

  1. pmc Neurological deficits and glycosphingolipid accumulation in saposin B deficient mice
    Ying Sun
    Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229 3039, USA
    Hum Mol Genet 17:2345-56. 2008
    ..B-/- provide a useful model for understanding the contributions of this saposin to GSL metabolism and homeostasis...
  2. pmc Comparative therapeutic effects of velaglucerase alfa and imiglucerase in a Gaucher disease mouse model
    You Hai Xu
    Division of Human Genetics, Cincinnati Children s Hospital Research Foundation, Cincinnati, Ohio, USA
    PLoS ONE 5:e10750. 2010
    ..The responses of GC levels and storage cell numbers in Vela- and Imig-treated Gaucher mice at various doses provide a backdrop for clinical applications and decisions...
  3. pmc Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits
    Ying Sun
    The Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229 3039, USA
    Hum Mol Genet 19:1088-97. 2010
    ....
  4. pmc Specific saposin C deficiency: CNS impairment and acid beta-glucosidase effects in the mouse
    Ying Sun
    Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, OH, USA
    Hum Mol Genet 19:634-47. 2010
    ..These results support the view that saposin C has multiple roles in glycosphingolipid (GSL) catabolism as well as a prominent function in CNS and axonal integrity independent of its role as an optimizer/stabilizer of GCase...
  5. pmc Substrate compositional variation with tissue/region and Gba1 mutations in mouse models--implications for Gaucher disease
    Ying Sun
    Division of Human Genetics, University of Cincinnati College of Medicine, Cincinnati, Ohio, United States of America
    PLoS ONE 8:e57560. 2013
    ..These results demonstrate age, organ, and mutation-specific quantitative differences in GC species and glucosylsphingosine accumulations that can have influence in the tissue/regional expression of Gaucher disease phenotypes...
  6. pmc Isofagomine in vivo effects in a neuronopathic Gaucher disease mouse
    Ying Sun
    The Division of Human Genetics, University of Cincinnati College of Medicine, Cincinnati, Ohio, United States of America
    PLoS ONE 6:e19037. 2011
    ..However, this was not correlated with a reduction in the accumulation of lipid substrates...
  7. pmc Gaucher disease: transcriptome analyses using microarray or mRNA sequencing in a Gba1 mutant mouse model treated with velaglucerase alfa or imiglucerase
    Nupur Dasgupta
    The Division of Human Genetics, Cincinnati Children s Hospital Research Foundation, Cincinnati, Ohio, United States of America
    PLoS ONE 8:e74912. 2013
    ..These results provide cross-validation for the mRNA-Seq and microarray platforms, and show differences between the molecular effects of two highly structurally similar ERT biopharmaceuticals. ..
  8. doi request reprint Gaucher disease and other storage disorders
    Gregory A Grabowski
    Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229 3039, USA
    Hematology Am Soc Hematol Educ Program 2012:13-8. 2012
    ..Although perceived as rare, the availability of treatment and the impact of the LSDs on more common diseases require their integration into routine clinical practice...
  9. pmc Comparison of measures of marker informativeness for ancestry and admixture mapping
    Lili Ding
    Cincinnati Children s Hospital Medical Center, Department of Pediatrics, University of Cincinnati, Cincinnati, OH, USA
    BMC Genomics 12:622. 2011
    ....
  10. pmc Temporal gene expression profiling reveals CEBPD as a candidate regulator of brain disease in prosaposin deficient mice
    Ying Sun
    Division of Human Genetics, Cincinnati Children s Hospital Medical Center, 3333 Burnet Avenue, MLC 4006, Cincinnati, OH, USA
    BMC Neurosci 9:76. 2008
    ..Extensive GSL storage occurs in various central nervous system regions in mammalian prosaposin deficiencies...
  11. pmc Multiple interactions between the alpha 2C- and beta1-adrenergic receptors influence heart failure survival
    Sharon L R Kardia
    Department of Epidemiology, School of Public Health, University of Michigan, 109 Observatory St, Ann Arbor, MI 48109 2029, USA
    BMC Med Genet 9:93. 2008
    ..The purpose of this study was to investigate possible synergistic effects of polymorphisms of these two intronless genes (ADRB1 and ADRA2C, respectively) on the risk of death/transplant in heart failure patients...
  12. ncbi request reprint Delivery of lysosomal enzymes for therapeutic use: glucocerebrosidase as an example
    Gregory A Grabowski
    The Division and Programme in Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229 3039, USA
    Expert Opin Drug Deliv 3:771-82. 2006
    ..Similar results are being obtained in several other lysosomal storage diseases. Evolving gene and chaperone approaches provide alternative treatment strategies...
  13. ncbi request reprint Gaucher disease: lessons from a decade of therapy
    Gregory A Grabowski
    Division and Program in Human Genetics, Children s Hospital Research Foundation, Cincinnati, Ohio 45229 3039, USA
    J Pediatr 144:S15-9. 2004
  14. pmc Global gene expression profile progression in Gaucher disease mouse models
    You Hai Xu
    The Division of Human Genetics, Cincinnati Children s Hospital Research Foundation, Cincinnati, OH 45229 3039, USA
    BMC Genomics 12:20. 2011
    ..The pathogenic pathways resulting from lipid laden macrophages (Gaucher cells) in visceral organs and their abnormal functions are obscure...
  15. pmc Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1
    Gregory A Grabowski
    Cincinnati Children s Hospital Medical Center, Division of Human Genetics, Cincinnati, Ohio 45229 3039, USA
    Genet Med 11:92-100. 2009
    ..To determine whether enzyme therapy with imiglucerase/alglucerase demonstrates dose-response relationships with doses and disease parameters used in routine clinical practice for Gaucher disease type 1 patients...
  16. ncbi request reprint Treatment perspectives for the lysosomal storage diseases
    Gregory A Grabowski
    University of Cincinnati College of Medicine, Cincinnati Children s Hospital Medical Center, The Division of Human Genetics, Department of Pediatrics, Cincinnati, Ohio 45229 3039, USA
    Expert Opin Emerg Drugs 13:197-211. 2008
    ..This approach in Gaucher disease provided a prototype for the basic and clinical sciences, and the economic foundation for other ultra-orphan diseases...
  17. ncbi request reprint Perspectives on gene therapy for lysosomal storage diseases that affect hematopoiesis
    Gregory A Grabowski
    Division and Program in Human Genetics, Children s Hospital Medical Center, TCHRF 1042, 3333 Burnet Avenue, Cincinnati, OH 45229, USA
    Curr Hematol Rep 2:356-62. 2003
    ..These storage diseases provide the basis for continued development of gene therapy...
  18. ncbi request reprint Gaucher disease: alendronate disodium improves bone mineral density in adults receiving enzyme therapy
    Richard J Wenstrup
    Division of Human Genetics, Children s Hospital Research Foundation ML 4006, Cincinnati OH 45229 3039, USA
    Blood 104:1253-7. 2004
    ..Alendronate is a useful adjunctive therapy in combination with enzyme replacement therapy (ERT) for the treatment of GD-related osteopenia in adults, but it cannot be expected to improve focal lesions...
  19. ncbi request reprint Gaucher disease mouse models: point mutations at the acid beta-glucosidase locus combined with low-level prosaposin expression lead to disease variants
    Ying Sun
    Division and Program in Human Genetics, Children s Hospital Research Foundation, Cincinnati, OH 45229 3039, USA
    J Lipid Res 46:2102-13. 2005
    ..These models mimic a more severe Gaucher disease phenotype and could be useful for therapeutic intervention studies...
  20. pmc In vivo and ex vivo evaluation of L-type calcium channel blockers on acid beta-glucosidase in Gaucher disease mouse models
    Ying Sun
    The Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio, USA
    PLoS ONE 4:e7320. 2009
    ..These results show that LTCC blockers had the ex vivo effects of increasing GCase activity and protein in the mouse fibroblasts, but these effects did not translate into similar changes in vivo even at very high drug doses...
  21. pmc Dependence of reversibility and progression of mouse neuronopathic Gaucher disease on acid beta-glucosidase residual activity levels
    You Hai Xu
    The Divisions of Human Genetics, Cincinnati Children s Hospital Medical Center, 3333 Burnet Avenue, MLC 4006, Cincinnati, OH 45229 3039, USA
    Mol Genet Metab 94:190-203. 2008
    ..The persistent CNS deterioration, histologic abnormalities, and glucosylceramide storage in the CBE-treated D409V mice revealed a threshold level of GCase activity necessary for the prevention of progression of CNS involvement...
  22. ncbi request reprint Saposin C: neuronal effect and CNS delivery by liposomes
    Zhengtao Chu
    Division and Program in Human Genetics, Children s Hospital Research Foundation, University of Cincinnati, Ohio 45229 3039, USA
    Ann N Y Acad Sci 1053:237-46. 2005
    ..These studies may yield a new therapeutic approach for neuron protection, preservation, and regeneration...
  23. ncbi request reprint Combined saposin C and D deficiencies in mice lead to a neuronopathic phenotype, glucosylceramide and alpha-hydroxy ceramide accumulation, and altered prosaposin trafficking
    Ying Sun
    Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229, USA
    Hum Mol Genet 16:957-71. 2007
    ..This CD null mouse model provides a tool to explore the in vivo functional interactions of saposins in GSL metabolism and lysosomal storage diseases, and prosaposin's physiological effects...
  24. ncbi request reprint Prosaposin: threshold rescue and analysis of the "neuritogenic" region in transgenic mice
    Ying Sun
    The Division and Program in Human Genetics, Children s Hospital Research Foundation, Cincinnati, OH 45229 3039, USA
    Mol Genet Metab 76:271-86. 2002
    ..These studies also show in vivo localization of the GCase activation region to the carboxy terminal half of saposin C and the lack of a significant gross trophic effect of saposin C on CNS organization in vivo...
  25. pmc Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease
    You Hai Xu
    Divisions of Human Genetics and Pathology, Cincinnati Children s Hospital Research Foundation, 3333 Burnet Avenue, Cincinnati, Ohio 45229 3039, USA
    Am J Pathol 163:2093-101. 2003
    ..These GCase-deficient mice provide tools for gaining insight into the pathophysiology of Gaucher disease and developing improved therapies...
  26. pmc Reprogramming erythroid cells for lysosomal enzyme production leads to visceral and CNS cross-correction in mice with Hurler syndrome
    Daren Wang
    Division of Experimental Hematology and Cancer Biology, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229, USA
    Proc Natl Acad Sci U S A 106:19958-63. 2009
    ..This approach provides a paradigm for the utilization of RBC precursors as a depot for efficient and potentially safer systemic delivery of nonsecreted proteins by ex vivo HSC gene transfer...
  27. pmc Analyses of temporal regulatory elements of the prosaposin gene in transgenic mice
    Ying Sun
    The Division and Program in Human Genetics, Children s Hospital Medical Center, 3333 Burnet Avenue, PAV 3 52, Cincinnati, OH 45229 3039, USA
    Biochem J 370:557-66. 2003
    ..Additional regulatory elements outside the 5' region of the 2400 bp promoter fragment appear to be essential for the physiological control of the prosaposin locus...
  28. doi request reprint Phenotype, diagnosis, and treatment of Gaucher's disease
    Gregory A Grabowski
    Cincinnati Children s Hospital Medical Center, Division of Human Genetics, Department of Pediatrics, University of Cincinnati, Cincinnati, OH, USA
    Lancet 372:1263-71. 2008
    ..These developments are novel, clinically important, advancements for patients with other lysosomal storage diseases and genetic diseases...
  29. ncbi request reprint Gaucher disease: in vivo evidence for allele dose leading to neuronopathic and nonneuronopathic phenotypes
    Huiquan Zhao
    Division and Program in Human Genetics, Children s Hospital Research Foundation, Cincinnati, Ohio, USA
    Am J Med Genet A 116:52-6. 2003
    ..Designation of genotype associations with specific phenotypes must be assessed with this perspective...
  30. ncbi request reprint Ex vivo localization of the mouse saposin C activation region for acid beta-glucosidase
    Xiaoyang Qi
    The Division of Human Genetics, Children s Hospital Research Foundation and Department of Pediatrics, 3333 Burnet Avenue, Cincinnati, OH 45229 3039, USA
    Mol Genet Metab 76:189-200. 2002
    ..These results also show that the enzymatic activation domain is located at carboxyl-terminal half of saposin C and functions only in the context of the general saposin structure...
  31. ncbi request reprint Conditional expression of human acid beta-glucosidase improves the visceral phenotype in a Gaucher disease mouse model
    Ying Sun
    Division of Human Genetics, Children s Hospital Research Foundation and University of Cincinnati College of Medicine, Department of Pediatrics, Cincinnati, OH 45229 3039, USA
    J Lipid Res 47:2161-70. 2006
    ..This study demonstrates that conditionally expressed hGCase supplemented the existing mutant mouse GCase to control visceral substrate accumulation in vivo...
  32. pmc The role of mannosylated enzyme and the mannose receptor in enzyme replacement therapy
    Hong Du
    Division and Program in Human Genetics, Cincinnati Children s Hospital Research Foundation, Cincinnati, OH 45229 3039, USA
    Am J Hum Genet 77:1061-74. 2005
    ....
  33. ncbi request reprint Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations
    Benjamin Liou
    Division and Program in Human Genetics, Children s Hospital Research Foundation, Cincinnati, OH 45229, USA
    J Biol Chem 281:4242-53. 2006
    ..g. Val --> Leu). These results provide initial studies for the engineering of variant GCases and, potentially, molecular chaperones for therapeutic use...
  34. pmc Time series expression analyses using RNA-seq: a statistical approach
    Sunghee Oh
    Department of Pediatrics, Children s Hospital Medical Center, Cincinnati, OH 45229 3039, USA
    Biomed Res Int 2013:203681. 2013
    ..We use three real datasets and simulation studies to demonstrate the utility of these dynamic methods in temporal analysis...
  35. ncbi request reprint Reduction of atherosclerotic plaques by lysosomal acid lipase supplementation
    Hong Du
    Division and Program in Human Genetics, Children s Hospital Research Foundation, Cincinnati, OH 45229, USA
    Arterioscler Thromb Vasc Biol 24:147-54. 2004
    ..Proof of principle is presented for targeted enzyme supplementation by using lysosomal acid lipase to decrease aortic and coronary wall lipid accumulation in a mouse model of atherosclerosis...
  36. ncbi request reprint Lysosomal acid lipase deficiency: correction of lipid storage by adenovirus-mediated gene transfer in mice
    Hong Du
    Division of Human Genetics, Cincinnati Children s Hospital Research Foundation, Cincinnati, OH 45229, USA
    Hum Gene Ther 13:1361-72. 2002
    ..These studies provide the basis for the use of gene therapy, in the form of gene transfer via intravenously administered adenovirus, to correct deficiency states, such as WD and CESD, and histopathology of a variety of tissues...
  37. pmc Participation of asparagine 370 and glutamine 235 in the catalysis by acid beta-glucosidase: the enzyme deficient in Gaucher disease
    Benjamin Liou
    The A Graeme Mitchell Chair in Human Genetics, Division and Program in Human Genetics, Children s Hospital Medical Center, 3333 Burnet Avenue, ML 4006, Cincinnati, OH 45229 3039, USA
    Mol Genet Metab 97:65-74. 2009
    ..This study provides insight into the function of these residues in acid beta-glucosidase active site function...
  38. ncbi request reprint Recent clinical progress in Gaucher disease
    Gregory A Grabowski
    The Children s Hospital Research Foundation, Cincinnati Children s Hospital Medical Center, and the Department of Pediatrics of the University of Cincinnati, Cincinnati, Ohio 45229 3039, USA
    Curr Opin Pediatr 17:519-24. 2005
    ..Major clinical advances in Gaucher disease focus on detection, prediction and treatment of variant phenotypes...
  39. ncbi request reprint Saposin C is required for normal resistance of acid beta-glucosidase to proteolytic degradation
    Ying Sun
    Division and Program in Human Genetics, Children s Hospital Research Foundation, Cincinnati, Ohio 45229 3039, USA
    J Biol Chem 278:31918-23. 2003
    ..Thus, diminished in vivo GCase activity would be greater than expected only from the lack of GCase activation by saposin C. These results indicate a new property for saposin C, an anti-proteolytic protective function toward GCase...
  40. ncbi request reprint Enzyme reconstitution/replacement therapy for lysosomal storage diseases
    T Andrew Burrow
    Division of Human Genetics, Cincinnati Children s Hospital Medical Center and the Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio 45229 3039, USA
    Curr Opin Pediatr 19:628-35. 2007
    ....
  41. ncbi request reprint Gaucher disease: progressive mesenteric and mediastinal lymphadenopathy despite enzyme therapy
    T Andrew Burrow
    Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio 45229, USA
    J Pediatr 150:202-6. 2007
    ..These complications are unique, indicating poorly accessible, differentially responsive compartments in patients with Gaucher's disease who are receiving enzyme therapy...
  42. ncbi request reprint Enzyme therapy of gaucher disease: clinical and biochemical changes during production of and tolerization for neutralizing antibodies
    Huiquan Zhao
    Division and Program in Human Genetics, Cincinnati Children s Research Foundation, OH 45229, USA
    Blood Cells Mol Dis 30:90-6. 2003
    ..The persistence of minimal amounts of in vitro neutralizing antibodies does not interfere with the therapeutic effectiveness. Chitotriosidase is not a sensitive marker for the severity of disease or disease progression...
  43. ncbi request reprint Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements
    Gregory A Grabowski
    Division and Program in Human Genetics, Children s Hospital Research Foundation, Cincinnati, OH 45229 3039, USA
    Eur J Pediatr 163:58-66. 2004
    ..In addition, different organs may respond differently to therapy. Initial assessment of each organ system can enable setting of realistic and individualized goals...
  44. pmc Multi-system disorders of glycosphingolipid and ganglioside metabolism
    You Hai Xu
    Division of Human Genetics, Cincinnati Children s Hospital Medical Center and the Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229 3039, USA
    J Lipid Res 51:1643-75. 2010
    ..These are the focus of this review...
  45. pmc Wolman disease/cholesteryl ester storage disease: efficacy of plant-produced human lysosomal acid lipase in mice
    Hong Du
    Division and Program in Human Genetics, Cincinnati Children s Hospital Research Foundation, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA
    J Lipid Res 49:1646-57. 2008
    ..These studies demonstrate the feasibility of using plant-expressed, recombinant hLAL for the enzyme therapy of human WD/CESD with general implications for other lysosomal storage diseases...
  46. ncbi request reprint Enzyme therapy for lysosomal storage disease: principles, practice, and prospects
    Gregory A Grabowski
    The Division and Program in Human Genetics, Cincinnati Children s Hospital Research Foundation, Cincinnati, Ohio, 45229 3039, USA
    Annu Rev Genomics Hum Genet 4:403-36. 2003
    ..The principles, progress, and practice in these diseases provide prototypes for expansion of enzyme therapy to a growing set of these diseases...
  47. ncbi request reprint Translation modulation of acid beta-glucosidase in HepG2 cells: participation of the PKC pathway
    You Hai Xu
    Division of Human Genetics, The Children s Hospital Research Foundation, Cincinnati, OH 45229 3039, USA
    Mol Genet Metab 84:252-64. 2005
    ..These findings indicate potential broader impacts of the TCP/PKC system on expression of this and other genes of therapeutic interest...
  48. pmc Phospholipid membrane interactions of saposin C: in situ atomic force microscopic study
    Hong Xing You
    Department of Cell Biology, Neurobiology, and Anatomy, University of Cincinnati College of Medicine, Ohio 45267 0521, USA
    Biophys J 84:2043-57. 2003
    ..This study provides an approach to investigate the structure-function aspects of Sap C interaction with phospholipid membranes, with insights into the mechanism(s) of Sap C-membrane interaction...
  49. ncbi request reprint Phospholipid vesicle fusion induced by saposin C
    Ying Wang
    Division and Program in Human Genetics, Children s Hospital Research Foundation, 3333 Burnet Avenue, Cincinnati, OH 45229 3039, USA
    Arch Biochem Biophys 415:43-53. 2003
    ..Addition of selected saposin C peptides prior to intact saposin C in reaction mixtures abolished the liposomal fusion. These results indicated that saposin-membrane and saposin-saposin interactions are needed for the fusion process...
  50. ncbi request reprint AAV8-mediated expression of glucocerebrosidase ameliorates the storage pathology in the visceral organs of a mouse model of Gaucher disease
    Kerry Anne McEachern
    Genzyme Corporation, 31 New York Avenue, Framingham, MA 01701 9322, USA
    J Gene Med 8:719-29. 2006
    ..A Gaucher mouse model (D409V/null) exhibiting reduced GC activity and accumulation of GL-1 was used to evaluate adeno-associated viral (AAV)-mediated gene therapy...
  51. ncbi request reprint Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring
    Antonio Baldellou
    Unidad de Enfermedades Metabolicas, Hospital Infantil Miguel Servet, Po Isabel la Católica, 350009 Zaragoza, Spain
    Eur J Pediatr 163:67-75. 2004
    ..Monitoring must include regular psychosocial, functional status and quality-of-life evaluation, as well as consistent assessment of therapeutic goal attainment and necessary dosage adjustments based on the patient's progress...
  52. ncbi request reprint Phenotypic and genotypic heterogeneity in Gaucher disease type 1: a comparison between Brazil and the rest of the world
    Elisa Sobreira
    FCM Santa Casa de São Paulo, Sao Paulo, SP, Brazil
    Mol Genet Metab 90:81-6. 2007
    ..The findings also emphasize the need for caution in making generalizations about Gaucher disease across demographic groups...
  53. ncbi request reprint A specific and potent inhibitor of glucosylceramide synthase for substrate inhibition therapy of Gaucher disease
    Kerry Anne McEachern
    Genzyme Corporation, 31 New York Avenue, Framingham, MA 01701 9322, USA
    Mol Genet Metab 91:259-67. 2007
    ..These data indicate that substrate inhibition therapy with Genz-112638 represents a viable alternate approach to enzyme therapy to treat the visceral pathology in Gaucher disease...
  54. ncbi request reprint Apolipoprotein E-deficient lipoproteins induce foam cell formation by downregulation of lysosomal hydrolases in macrophages
    Dongfang Wu
    Department of Cardiovascular Biology, Meharry Medical College, Nashville, TN 37208, USA
    J Lipid Res 48:2571-8. 2007
    ....
  55. ncbi request reprint Guidance on the use of miglustat for treating patients with type 1 Gaucher disease
    Neal J Weinreb
    University Research Foundation for Lysosomal Storage Diseases and Northwest Oncology Hematology Associates PA, Coral Springs, Florida
    Am J Hematol 80:223-9. 2005
    ....
  56. ncbi request reprint Vitreous opacities and retinal vascular abnormalities in Gaucher disease
    Eric M Shrier
    Department of Ophthalmology and Visual Sciences, University of Louisville School of Medicine, 301 E Muhammad Ali Boulevard, Louisville, KY 40202, USA
    Arch Ophthalmol 122:1395-8. 2004
  57. pmc Editing of CD1d-bound lipid antigens by endosomal lipid transfer proteins
    Dapeng Zhou
    Department of Pathology, University of Chicago, Chicago, IL 60637, USA
    Science 303:523-7. 2004
    ..LTPs constitute a previously unknown link between lipid metabolism and immunity and are likely to exert a profound influence on the repertoire of self, tumor, and microbial lipid antigens...
  58. ncbi request reprint Characterization of neuronopathic Gaucher disease among ethnic Poles
    Anna Tylki-Szymanska
    Department of Metabolic Diseases, The Children s Memorial Health Institute, Warsaw, Poland
    Genet Med 8:8-15. 2006
    ..Here, the clinical and molecular findings of the subacute neuronopathic variant are delineated among ethnic Poles...
  59. doi request reprint Prevalence of type 1 Gaucher disease in the United States
    Neal J Weinreb
    Arch Intern Med 168:326-7; author reply 327-8. 2008
  60. ncbi request reprint Therapeutic goals in the treatment of Gaucher disease
    Gregory M Pastores
    Neurology in Pediatrics, Neurgenetics Unit, Department of Neurology, New York University School of Medicine, NY, USA
    Semin Hematol 41:4-14. 2004
    ..Here we establish goals of treatment in Gaucher disease and propose a comprehensive schedule of monitoring of all relevant aspects to confirm the achievement, maintenance, and continuity of the therapeutic response...

Research Grants46

  1. PROSAPOSINS PHYSIOLOGIC ROLE
    Gregory Grabowski; Fiscal Year: 1999
    ..The results of these experiments have major import for understanding CNS development, nerve regeneration, GSL metabolism and the pathophysiology of GSL inborn errors of metabolism. ..
  2. Studies of Prosaposin's Physiologic Role
    Gregory Grabowski; Fiscal Year: 2007
    ..These studies have implications for GSL metabolism, and lysosomal storage disease phenotypic expression and therapy. ..
  3. GAUCHER DISEASE--A PROTOTYPE LIPIDOSIS
    Gregory Grabowski; Fiscal Year: 1992
    ....
  4. GAUCHER DISEASE
    Gregory Grabowski; Fiscal Year: 2000
    ..The results of these investigations should provide a deeper understanding of beta-GIc's function and the pathophysiology of GD as a basis for improved therapies for this and other inborn errors of metabolism. ..
  5. PROSAPOSINS PHYSIOLOGIC ROLE
    Gregory Grabowski; Fiscal Year: 1999
    ..The results of these experiments have major import for understanding CNS development, nerve regeneration, GSL metabolism and the pathophysiology of GSL inborn errors of metabolism. ..
  6. Studies of Prosaposin's Physiologic Role
    Gregory Grabowski; Fiscal Year: 2006
    ..These studies have implications for GSL metabolism, and lysosomal storage disease phenotypic expression and therapy. ..
  7. STUDIES OF GAUCHER DISEASE: A PROTOTYPE LIPIDOSIS
    Gregory Grabowski; Fiscal Year: 2001
    ..These studies should provide insights into the pathophysiology and therapy of GD, and to over 20 glycolipid storage diseases that depend on the GCS synthetic and GCase degradative pathwavs. ..
  8. STUDIES OF GAUCHER DISEASE: A PROTOTYPE LIPIDOSIS
    Gregory A Grabowski; Fiscal Year: 2010
    ....
  9. STUDIES OF GAUCHER DISEASE: A PROTOTYPE LIPIDOSIS
    Gregory Grabowski; Fiscal Year: 2009
    ....
  10. INBORN ERRORS OF SPHINGOLIPID CATABOLISM
    Gregory Grabowski; Fiscal Year: 2004
    ..abstract_text> ..
  11. STUDIES OF GAUCHER DISEASE: A PROTOTYPE LIPIDOSIS
    Gregory Grabowski; Fiscal Year: 2004
    ..These studies should provide insights into the pathophysiology and therapy of GD, and to over 20 glycolipid storage diseases that depend on the GCS synthetic and GCase degradative pathwavs. ..
  12. STUDIES OF GAUCHER DISEASE: A PROTOTYPE LIPIDOSIS
    Gregory Grabowski; Fiscal Year: 2005
    ..These studies should provide insights into the pathophysiology and therapy of GD, and to over 20 glycolipid storage diseases that depend on the GCS synthetic and GCase degradative pathwavs. ..
  13. STUDIES OF GAUCHER DISEASE: A PROTOTYPE LIPIDOSIS
    Gregory A Grabowski; Fiscal Year: 2010
    ..This approach offers the potential for more complete therapy, including the CNS, as well as less expensive and more convenient therapy for this disease as prototype for this class of disorders. ..
  14. Use of Hammerhead Ribozymes in Murine Models of Ol
    Gregory Grabowski; Fiscal Year: 2006
    ....
  15. STUDIES OF GAUCHER DISEASE: A PROTOTYPE LIPIDOSIS
    Gregory Grabowski; Fiscal Year: 2009
    ....
  16. STUDIES OF GAUCHER DISEASE: A PROTOTYPE LIPIDOSIS
    Gregory Grabowski; Fiscal Year: 2009
    ..This approach offers the potential for more complete therapy, including the CNS, as well as less expensive and more convenient therapy for this disease as prototype for this class of disorders. ..
  17. Use of Hammerhead Ribozymes in Murine Models of Ol
    Gregory Grabowski; Fiscal Year: 2007
    ....
  18. STUDIES OF GAUCHER DISEASE: A PROTOTYPE LIPIDOSIS
    Gregory A Grabowski; Fiscal Year: 2010
    ....
  19. STUDIES OF GAUCHER DISEASE: A PROTOTYPE LIPIDOSIS
    Gregory Grabowski; Fiscal Year: 2007
    ....
  20. INBORN ERRORS OF SPHINGOLIPID CATABOLISM
    Gregory Grabowski; Fiscal Year: 2003
    ..abstract_text> ..
  21. STUDIES OF GAUCHER DISEASE: A PROTOTYPE LIPIDOSIS
    Gregory Grabowski; Fiscal Year: 2003
    ..These studies should provide insights into the pathophysiology and therapy of GD, and to over 20 glycolipid storage diseases that depend on the GCS synthetic and GCase degradative pathwavs. ..
  22. GAUCHER DISEASE
    Gregory Grabowski; Fiscal Year: 1999
    ..The results of these investigations should provide a deeper understanding of beta-GIc's function and the pathophysiology of GD as a basis for improved therapies for this and other inborn errors of metabolism. ..
  23. STUDIES OF GAUCHER DISEASE: A PROTOTYPE LIPIDOSIS
    Gregory Grabowski; Fiscal Year: 1993
    ....
  24. INBORN ERRORS OF SPHINGOLIPID CATABOLISM
    Gregory Grabowski; Fiscal Year: 2000
    ..abstract_text> ..
  25. PROSAPOSINS PHYSIOLOGIC ROLE
    Gregory Grabowski; Fiscal Year: 2000
    ..The results of these experiments have major import for understanding CNS development, nerve regeneration, GSL metabolism and the pathophysiology of GSL inborn errors of metabolism. ..
  26. INBORN ERRORS OF SPHINGOLIPID CATABOLISM
    Gregory Grabowski; Fiscal Year: 2001
    ..abstract_text> ..
  27. PROSAPOSINS PHYSIOLOGIC ROLE
    Gregory Grabowski; Fiscal Year: 2001
    ..The results of these experiments have major import for understanding CNS development, nerve regeneration, GSL metabolism and the pathophysiology of GSL inborn errors of metabolism. ..
  28. INBORN ERRORS OF SPHINGOLIPID CATABOLISM
    Gregory Grabowski; Fiscal Year: 2002
    ..abstract_text> ..
  29. STUDIES OF GAUCHER DISEASE: A PROTOTYPE LIPIDOSIS
    Gregory Grabowski; Fiscal Year: 2002
    ..These studies should provide insights into the pathophysiology and therapy of GD, and to over 20 glycolipid storage diseases that depend on the GCS synthetic and GCase degradative pathwavs. ..
  30. Studies of Prosaposin's Physiologic Role
    Gregory Grabowski; Fiscal Year: 2003
    ..These studies have implications for GSL metabolism, and lysosomal storage disease phenotypic expression and therapy. ..