G A Grabowski

Summary

Affiliation: Children's Hospital Medical Center
Country: USA

Publications

  1. 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
  2. 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
  3. 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
  4. ncbi request reprint Cell cycle dependent intracellular distribution of two spliced isoforms of TCP/ILF3 proteins
    You Hai Xu
    The Children s Hospital Research Foundation, Division of Human Genetics, Cincinnati, OH 45229 3039, USA
    Mol Genet Metab 80:426-36. 2003
  5. ncbi request reprint In vivo roles of RORalpha and Sp4 in the regulation of murine prosaposin gene
    P Jin
    The Division of Human Genetics, Children s Hospital Research Foundation at Children s Hospital Medical Center, Cincinnati, Ohio 45529 3039, USA
    DNA Cell Biol 20:781-9. 2001
  6. ncbi request reprint Enzyme therapy for lysosomal acid lipase deficiency in the mouse
    H Du
    The Children s Hospital Research Foundation, Division of Human Genetics, 3333 Burnet Avenue, Cincinnati, OH 45229 3039, USA
    Hum Mol Genet 10:1639-48. 2001
  7. ncbi request reprint Lysosomal acid lipase-deficient mice: depletion of white and brown fat, severe hepatosplenomegaly, and shortened life span
    H Du
    Division of Human Genetics, Children s Hospital Research Foundation, Cincinnati, OH 45229, USA
    J Lipid Res 42:489-500. 2001
  8. ncbi request reprint Functional human saposins expressed in Escherichia coli. Evidence for binding and activation properties of saposins C with acid beta-glucosidase
    X Qi
    Division of Human Genetics, Children s Hospital Research Foundation, Cincinnati, Ohio
    J Biol Chem 269:16746-53. 1994
  9. ncbi request reprint Molecular cloning and characterization of a translational inhibitory protein that binds to coding sequences of human acid beta-glucosidase and other mRNAs
    Y H Xu
    Division of Human Genetics, and the Department of Pediatrics, University of Cincinnati, Cincinnati, Ohio 45229 3039, USA
    Mol Genet Metab 68:441-54. 1999
  10. ncbi request reprint Isolation and characterization of the human prosaposin promoter
    Y Sun
    The Division of Human Genetics, Children s Hospital Research Foundation at Children s Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229 3039, USA
    Gene 218:37-47. 1998

Collaborators

Detail Information

Publications63

  1. 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...
  2. 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...
  3. 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...
  4. ncbi request reprint Cell cycle dependent intracellular distribution of two spliced isoforms of TCP/ILF3 proteins
    You Hai Xu
    The Children s Hospital Research Foundation, Division of Human Genetics, Cincinnati, OH 45229 3039, USA
    Mol Genet Metab 80:426-36. 2003
    ..This study indicates that the multiple cellular functions, i.e., translation control, interleukin-2 enhancer binding, or cell division, of TCP/ILF3 are fulfilled by alternatively spliced isoforms...
  5. ncbi request reprint In vivo roles of RORalpha and Sp4 in the regulation of murine prosaposin gene
    P Jin
    The Division of Human Genetics, Children s Hospital Research Foundation at Children s Hospital Medical Center, Cincinnati, Ohio 45529 3039, USA
    DNA Cell Biol 20:781-9. 2001
    ..These results indicate that Sp4 and RORalpha play minor and major roles, respectively, in regional expression of the prosaposin locus in the brain, whereas expression in the spinal cord is independent of RORalpha...
  6. ncbi request reprint Enzyme therapy for lysosomal acid lipase deficiency in the mouse
    H Du
    The Children s Hospital Research Foundation, Division of Human Genetics, 3333 Burnet Avenue, Cincinnati, OH 45229 3039, USA
    Hum Mol Genet 10:1639-48. 2001
    ..TG and cholesterol levels decreased by approximately 50% in liver, 69% in spleen and 50% in small intestine. These studies provide feasibility for LAL enzyme therapy in human WD and CESD...
  7. ncbi request reprint Lysosomal acid lipase-deficient mice: depletion of white and brown fat, severe hepatosplenomegaly, and shortened life span
    H Du
    Division of Human Genetics, Children s Hospital Research Foundation, Cincinnati, OH 45229, USA
    J Lipid Res 42:489-500. 2001
    ..The involvement of macrophages throughout the body of lal-/- mice provide evidence for a critical nonappreciated role of LAL in cellular cholesterol and fatty acid metabolism, adipocyte differentiation, and fat mobilization...
  8. ncbi request reprint Functional human saposins expressed in Escherichia coli. Evidence for binding and activation properties of saposins C with acid beta-glucosidase
    X Qi
    Division of Human Genetics, Children s Hospital Research Foundation, Cincinnati, Ohio
    J Biol Chem 269:16746-53. 1994
    ..These results indicate that the saposin C-induced conformational change in the enzyme occurs via highly specific, probably multivalent, interactions between acid beta-glucosidase and saposin C...
  9. ncbi request reprint Molecular cloning and characterization of a translational inhibitory protein that binds to coding sequences of human acid beta-glucosidase and other mRNAs
    Y H Xu
    Division of Human Genetics, and the Department of Pediatrics, University of Cincinnati, Cincinnati, Ohio 45229 3039, USA
    Mol Genet Metab 68:441-54. 1999
    ..TCP80 is likely identical to MPP4 and NF90, but has previously undescribed roles in cellular function...
  10. ncbi request reprint Isolation and characterization of the human prosaposin promoter
    Y Sun
    The Division of Human Genetics, Children s Hospital Research Foundation at Children s Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229 3039, USA
    Gene 218:37-47. 1998
    ..Compared to the mouse promoter, the human promoter is missing a Sp1 cluster within a 310-bp upstream segment, and has AP-1, Oct-1 and two RORalpha sites that are protected from DNaseI by selected nuclear extracts...
  11. pmc Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse models
    Y H Xu
    Division of Human Genetics, Children s Hospital Medical Center, Cincinnati, Ohio 45229 3039, USA
    Mol Genet Metab 102:436-47. 2011
    ..These studies demonstrate a relationship between glucosylceramide accumulation and α-synuclein aggregates, and implicate glucosylceramide accumulation as risk factor for the α-synucleinopathies...
  12. ncbi request reprint Role of Sp proteins and RORalpha in transcription regulation of murine prosaposin
    P Jin
    Division of Human Genetics, Children s Hospital Research Foundation, Children s Hospital Medical Center, Cincinnati, Ohio 45229 3039, USA
    J Biol Chem 273:13208-16. 1998
    ..These interactions depend on the tissue-specific repertoire of transcription factors leading to differential expression of this locus...
  13. ncbi request reprint Targeted disruption of the mouse lysosomal acid lipase gene: long-term survival with massive cholesteryl ester and triglyceride storage
    H Du
    Division of Human Genetics, Children s Hospital Research Foundation, 3333 Burnet Avenue, Cincinnati, OH 45229 3039, USA
    Hum Mol Genet 7:1347-54. 1998
    ..The lal-/lal- mice provide a model to determine the role of LAL in lipid metabolism and the pathogenesis of its deficiency states...
  14. ncbi request reprint Temporal and spatial expression of murine acid beta-glucosidase mRNA
    E Ponce
    Division of Human Genetics, Children s Hospital Medical Center, Cincinnati, Ohio, USA
    Mol Genet Metab 74:426-34. 2001
    ..These tissue-, cell-, and developmental stage-specific variations of the gba mRNA level indicate major developmentally regulated changes in the expression pattern of gba in the late gestational period and postnatally...
  15. pmc Murine acid alpha-glucosidase: cell-specific mRNA differential expression during development and maturation
    E Ponce
    Division of Human Genetics, Children s Hospital Medical Center, Cincinnati, Ohio, USA
    Am J Pathol 154:1089-96. 1999
    ..The discrete temporal and spatial variations of GAA mRNA during development indicate different physiological roles for this enzyme in various cell types and developmental stages...
  16. ncbi request reprint Molecular and enzymatic analyses of lysosomal acid lipase in cholesteryl ester storage disease
    H Du
    College of Medicine, Children s Hospital Research Foundation of Children s Hospital Medical Center, Cincinnati, Ohio 45229 3039, USA
    Mol Genet Metab 64:126-34. 1998
    ..The results suggest that E8SJM leads to essentially a null allele and that the differences in WD and CESD phenotype involve other factors...
  17. ncbi request reprint Gaucher disease: Perspectives on a prototype lysosomal disease
    H Zhao
    Division and Program in Human Genetics, Cincinnati Children s Hospital Medical Center, Ohio 45229 3039, USA
    Cell Mol Life Sci 59:694-707. 2002
    ..Here, we review the current state of the molecular pathogenesis and provide our perspective of some major issues for continued advances in this prototype lysosomal storage disease...
  18. doi request reprint Genotype-phenotype correlations in Rubinstein-Taybi syndrome
    E K Schorry
    Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio 45229, USA
    Am J Med Genet A 146:2512-9. 2008
    ..Similarity in phenotype between the groups implies that the several genes involved in causing RTS likely have effects through the same pathway...
  19. ncbi request reprint Enzyme therapy for Gaucher disease: the first 5 years
    G A Grabowski
    Division in Human Genetics, Children s Hospital Research Foundation, Cincinnati, OH 45229 3039, USA
    Blood Rev 12:115-33. 1998
    ..An extensive review of the clinical and pathologic involvement by Gaucher disease is available...
  20. ncbi request reprint Translational inefficiency of acid beta-glucosidase mRNA in transgenic mammalian cells
    Y H Xu
    Division of Human Genetics, University of Cincinnati, College of Medicine, Cincinnati, Ohio 45229, USA
    Mol Genet Metab 64:87-98. 1998
    ..The cytoplasmic protein was not detected in insect cells. These results implicate acid beta-glucosidase coding sequences and a heat labile cytoplasmic protein in modulating the translation of overexpressed mRNA in transgenic cell lines...
  21. ncbi request reprint Gaucher disease: identification of three new mutations in the Korean and Chinese (Taiwanese) populations
    J W Kim
    Children s Hospital Research Foundation, Division of Human Genetics, Cincinnati, Ohio, USA
    Hum Mutat 7:214-8. 1996
    ..The commonality of these two mutations in the Korean and Chinese (Taiwanese) population indicates the need for more extensive screening for these mutations in the Gaucher populations...
  22. ncbi request reprint The mouse prosaposin locus: promoter organization
    Y Sun
    Division of Human Genetics, Children s Hospital Research Foundation at Children s Hospital Medical Center, Cincinnati, OH 45229 3039, USA
    DNA Cell Biol 16:23-34. 1997
    ..A negative regulatory element is located between 742 and 310 bp 5' to the transcription start site. These studies provide insight into the regulation of this unique "lysosomal" locus...
  23. ncbi request reprint Differential membrane interactions of saposins A and C: implications for the functional specificity
    X Qi
    Division of Human Genetics, Children's Hospital Research Foundation and the Department of Pediatrics, Cincinnati, Ohio 45229-3039, USA
    J Biol Chem 276:27010-7. 2001
    ..Such membrane interactions and orientations of the saposins determine the proximity of their activation and/or binding sites to lysosomal hydrolases or lipoid substrates...
  24. ncbi request reprint Human Ah receptor (AHR) gene: localization to 7p15 and suggestive correlation of polymorphism with CYP1A1 inducibility
    J Micka
    Physician Scientist Training Program, CHRF, Cincinnati, OH 45229, USA
    Pharmacogenetics 7:95-101. 1997
    ..These data indicate that the "high' and "low' CYP1A1 inducibility trait, in the population studied, cannot be explained by a difference among these 31 amino acids in exon 9 of the AHR gene...
  25. ncbi request reprint Tissue and cellular specific expression of murine lysosomal acid lipase mRNA and protein
    H Du
    Division of Human Genetics, Children s Hospital Research Foundation, Children s Hospital Medical Center, Cincinnati, OH, USA
    J Lipid Res 37:937-49. 1996
    ..Du, H., D. P. Witte, and G. A. Grabowski. Tissue and cellular specific expression of murine lysosomal acid lipase mRNA and protein...
  26. pmc Developmental and tissue-specific expression of prosaposin mRNA in murine tissues
    Y Sun
    Division of Human Genetics, Children s Hospital Medical Center, Cincinnati, Ohio 45229 3039
    Am J Pathol 145:1390-8. 1994
    ..The spatial organization of expression suggests a role for this locus in the expression of glycosphingolipid-storage diseases...
  27. 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...
  28. 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
    ....
  29. 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...
  30. 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...
  31. 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...
  32. 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...
  33. 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...
  34. 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...
  35. 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...
  36. 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...
  37. 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...
  38. ncbi request reprint Lysosomal acid lipase and atherosclerosis
    Hong Du
    The Children s Hospital Research Foundation of Cincinnati Children s Hospital Medical Center, and the Department of Pediatrics, University of Cincinnati, Cincinnati, Ohio 45229 3039, USA
    Curr Opin Lipidol 15:539-44. 2004
    ....
  39. 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...
  40. 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...
  41. 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...
  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 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
  44. 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
    ....
  45. 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
    ....
  46. ncbi request reprint Lysosomal enzymes are released from cultured human macrophages, hydrolyze LDL in vitro, and are present extracellularly in human atherosclerotic lesions
    Jukka K Hakala
    Wihuri Research Institute, Helsinki, Finland
    Arterioscler Thromb Vasc Biol 23:1430-6. 2003
    ..However, little is known about the hydrolytic enzymes in the arterial intima that induce fusion of LDL particles and so produce lipid droplets or that induce foam cell formation...
  47. 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...
  48. 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...
  49. 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...
  50. 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...
  51. 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...
  52. 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...
  53. 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...
  54. 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...
  55. 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
  56. 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...
  57. 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
    ....
  58. 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...
  59. 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...
  60. 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...
  61. 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...
  62. 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...
  63. 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