alpha galactosidase

Summary

Summary: An enzyme that catalyzes the hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-galactosides including galactose oligosaccharides, galactomannans, and galactolipids. EC 3.2.1.22.

Top Publications

  1. pmc Elevated globotriaosylsphingosine is a hallmark of Fabry disease
    Johannes M Aerts
    Amsterdam Lysosome Center, Departments of Medical Biochemistry, Internal Medicine, and Paediatrics, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands
    Proc Natl Acad Sci U S A 105:2812-7. 2008
  2. ncbi Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population
    Robert Dobrovolny
    Institute of Inherited Metabolic Diseases, First Faculty of Medicine, Charles University, Ke Karlovu 2, Prague 2, 128 08 Czech Republic
    J Mol Med (Berl) 83:647-54. 2005
  3. ncbi Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele
    Makiko Yasuda
    Department of Human Genetics, Mount Sinai School of Medicine, New York, New York, USA
    Hum Mutat 22:486-92. 2003
  4. ncbi Antiproteinuric therapy and fabry nephropathy: sustained reduction of proteinuria in patients receiving enzyme replacement therapy with agalsidase-beta
    Hindia Tahir
    Division of Nephrology, Department of Medicine, University of Alabama at Birmingham, AL 35294 0006, USA
    J Am Soc Nephrol 18:2609-17. 2007
  5. ncbi An atypical variant of Fabry's disease with manifestations confined to the myocardium
    W von Scheidt
    Medizinische Klinik, Ludwig Maximilians Universitat Munchen, Klinikum Grosshadern
    N Engl J Med 324:395-9. 1991
  6. ncbi Renal pathology in Fabry disease
    Joseph Alroy
    Department of Pathology, Tufts University Schools of Veterinary Medicine and Medicine, New England Medical Center, Boston, Massachusetts, USA
    J Am Soc Nephrol 13:S134-8. 2002
  7. ncbi Safety and efficacy of recombinant human alpha-galactosidase A--replacement therapy in Fabry's disease
    C M Eng
    Mount Sinai School of Medicine, New York, NY 10029, USA
    N Engl J Med 345:9-16. 2001
  8. ncbi Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study
    Frank Weidemann
    Department of Medicine, Division of Cardiology, University Hospital Wurzburg, Germany
    Circulation 108:1299-301. 2003
  9. ncbi Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor
    J Q Fan
    Department of Membrane Biochemistry, Tokyo, Japan
    Nat Med 5:112-5. 1999
  10. ncbi Fabry disease: correlation between structural changes in alpha-galactosidase, and clinical and biochemical phenotypes
    Fumiko Matsuzawa
    Celestar Lexico Sciences Inc, MTG 17, 1 3 Nakase, Chiba 261 8501, Japan
    Hum Genet 117:317-28. 2005

Research Grants

Detail Information

Publications259 found, 100 shown here

  1. pmc Elevated globotriaosylsphingosine is a hallmark of Fabry disease
    Johannes M Aerts
    Amsterdam Lysosome Center, Departments of Medical Biochemistry, Internal Medicine, and Paediatrics, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands
    Proc Natl Acad Sci U S A 105:2812-7. 2008
    ..Our findings suggest that measurement of circulating globotriaosylsphingosine will be useful to monitor Fabry disease and may contribute to a better understanding of the disorder...
  2. ncbi Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population
    Robert Dobrovolny
    Institute of Inherited Metabolic Diseases, First Faculty of Medicine, Charles University, Ke Karlovu 2, Prague 2, 128 08 Czech Republic
    J Mol Med (Berl) 83:647-54. 2005
    ....
  3. ncbi Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele
    Makiko Yasuda
    Department of Human Genetics, Mount Sinai School of Medicine, New York, New York, USA
    Hum Mutat 22:486-92. 2003
    ..Thus, D313Y is a rare exonic variant with about 60% of wild-type activity in vitro and reduced activity at neutral pH, resulting in low plasma alpha-Gal A activity...
  4. ncbi Antiproteinuric therapy and fabry nephropathy: sustained reduction of proteinuria in patients receiving enzyme replacement therapy with agalsidase-beta
    Hindia Tahir
    Division of Nephrology, Department of Medicine, University of Alabama at Birmingham, AL 35294 0006, USA
    J Am Soc Nephrol 18:2609-17. 2007
    ..23 +/- 1.12 ml/min per 1.73 m2 per yr with 30 mo of follow-up...
  5. ncbi An atypical variant of Fabry's disease with manifestations confined to the myocardium
    W von Scheidt
    Medizinische Klinik, Ludwig Maximilians Universitat Munchen, Klinikum Grosshadern
    N Engl J Med 324:395-9. 1991
  6. ncbi Renal pathology in Fabry disease
    Joseph Alroy
    Department of Pathology, Tufts University Schools of Veterinary Medicine and Medicine, New England Medical Center, Boston, Massachusetts, USA
    J Am Soc Nephrol 13:S134-8. 2002
  7. ncbi Safety and efficacy of recombinant human alpha-galactosidase A--replacement therapy in Fabry's disease
    C M Eng
    Mount Sinai School of Medicine, New York, NY 10029, USA
    N Engl J Med 345:9-16. 2001
    ....
  8. ncbi Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study
    Frank Weidemann
    Department of Medicine, Division of Cardiology, University Hospital Wurzburg, Germany
    Circulation 108:1299-301. 2003
    ..Whether these results can be translated into an improvement of myocardial function has yet to be demonstrated...
  9. ncbi Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor
    J Q Fan
    Department of Membrane Biochemistry, Tokyo, Japan
    Nat Med 5:112-5. 1999
    ..We propose a new molecular therapeutic strategy for genetic metabolic diseases of administering competitive inhibitors as 'chemical chaperons' at sub-inhibitory intracellular concentrations...
  10. ncbi Fabry disease: correlation between structural changes in alpha-galactosidase, and clinical and biochemical phenotypes
    Fumiko Matsuzawa
    Celestar Lexico Sciences Inc, MTG 17, 1 3 Nakase, Chiba 261 8501, Japan
    Hum Genet 117:317-28. 2005
    ..This study demonstrated the correlation of structural changes, and clinical and biochemical phenotypes. Structural investigation is useful for elucidating the bases of Fabry disease and clinical treatment...
  11. ncbi Promoter dependence of plasmid-pluronics targeted alpha galactosidase A expression in skeletal muscle of Fabry mice
    Matthieu D Lavigne
    Institute of Biomedical and Biomolecular Sciences, School of Pharmacy and Biomedical Sciences, University of Portsmouth, St Michael s Building, White Swan Road, Portsmouth PO1 2DT, UK
    Mol Ther 12:985-90. 2005
  12. ncbi Comparison of the effects of agalsidase alfa and agalsidase beta on cultured human Fabry fibroblasts and Fabry mice
    Hitoshi Sakuraba
    Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, Tokyo Metropolitan Organization for Medical Research, 3 18 22 Honkomagome, Tokyo, 113 8613, Japan
    J Hum Genet 51:180-8. 2006
    ..Repeated administration of agalsidase beta apparently decreased the number of accumulated lamellar inclusion bodies in renal tubular cells of Fabry mice...
  13. ncbi Crystal structure of rice alpha-galactosidase complexed with D-galactose
    Zui Fujimoto
    Department of Biochemistry, National Institute of Agrobiological Sciences, Tsukuba, Ibaraki 305 8602, Japan
    J Biol Chem 278:20313-8. 2003
    ..Structural comparisons of rice alpha-galactosidase with chicken alpha-N-acetylgalactosaminidase provided further understanding of the substrate recognition mechanism in these enzymes...
  14. ncbi Enzyme replacement therapy in Fabry disease: a randomized controlled trial
    R Schiffmann
    Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, Bldg 10, Room 3D03, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD 20892 1260, USA
    JAMA 285:2743-9. 2001
    ..Most patients experience debilitating neuropathic pain and premature mortality because of renal failure, cardiovascular disease, or cerebrovascular disease...
  15. pmc Removal of alpha-Gal epitopes from porcine aortic valve and pericardium using recombinant human alpha galactosidase A
    Seongsik Park
    Department of Cardiothoracic Surgery, Dankook University Hospital, College of Medicine, Dankook University, Cheonan, Korea
    J Korean Med Sci 24:1126-31. 2009
    ..As a result, the recombinant alpha-galactosidase A could remove cell surface alpha-Gals on porcine aortic valve and pericardial tissue as effectively as green coffee bean alpha-galactosidase...
  16. ncbi Fabry disease: ultrastructural lectin histochemical analyses of lysosomal deposits
    A Kanda
    Department of Dermatology, Faculty of Medicine, Kagoshima University, 8 35 1 Sakuragaoka, Kagoshima 890 8520, Japan
    Virchows Arch 436:36-42. 2000
    ..The experimental procedures used in this study have considerable potential for use in investigations of glycolipid and glycoprotein storage diseases without the need for complex methodology and expensive materials...
  17. ncbi 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...
  18. ncbi Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey
    Ales Linhart
    Second Department of Internal Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic
    Eur Heart J 28:1228-35. 2007
    ..The aim of this study was to determine the prevalence and characteristics of cardiac disease in AFD patients...
  19. ncbi The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy
    C Whybra
    University Children s Hospital, University of Mainz, Mainz, Germany
    Clin Genet 65:299-307. 2004
    ..001) reduction in MSSI score (by a median of nine points). This study has shown that the MSSI score may be a useful, specific measure for objectively assessing the severity of AFD and for monitoring ERT-related treatment effects...
  20. ncbi An atypical variant of Fabry's disease in men with left ventricular hypertrophy
    S Nakao
    First Department of Internal Medicine, Faculty of Medicine, Kagoshima University, Japan
    N Engl J Med 333:288-93. 1995
    ..Therefore, we assessed the incidence of hemizygosity for Fabry's disease among male patients with left ventricular hypertrophy...
  21. ncbi Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease
    Dominique P Germain
    Assistance Publique Hopitaux de Paris, Paris, France
    J Am Soc Nephrol 18:1547-57. 2007
    ..Long-term agalsidase beta therapy stabilizes renal function in patients without renal involvement at baseline, maintains reduction of plasma GL-3, and sustains GL-3 clearance in capillary endothelial cells and multiple renal cell types...
  22. ncbi Agalsidase-beta therapy for advanced Fabry disease: a randomized trial
    Maryam Banikazemi
    Mount Sinai School of Medicine of New York University, New York, New York, USA
    Ann Intern Med 146:77-86. 2007
    ..Fabry disease (alpha-galactosidase A deficiency) is a rare, X-linked lysosomal storage disorder that can cause early death from renal, cardiac, and cerebrovascular involvement...
  23. ncbi Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa
    D A Hughes
    Department of Academic Haematology, Royal Free and University College Medical School, Rowland Hill Street, London NW3 2PF, UK
    Heart 94:153-8. 2008
    ..The present study was designed to assess the safety and efficacy of enzyme replacement therapy with agalsidase alfa on the cardiac manifestations of Anderson-Fabry disease...
  24. pmc Natural history of Fabry disease in females in the Fabry Outcome Survey
    P B Deegan
    Department of Medicine, Addenbrooke s Hospital, Cambridge, CB2 2QQ, UK
    J Med Genet 43:347-52. 2006
    ..Although the severity of clinical features in male patients is well described, only recently have studies reported the high prevalence of disabling clinical features in heterozygous females...
  25. pmc Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey)
    B Hoffmann
    Department for General Pediatrics, University Children s Hospital, Heinrich Heine University Dusseldorf, Moorenstr 5, D 40225 Dusseldorf, Germany
    J Med Genet 42:247-52. 2005
    ..Symptoms often begin in childhood and include acroparaesthesia, with burning or tingling pain that spreads from the extremities to more proximal sites...
  26. ncbi Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma
    Roseline Froissart
    Laboratoire de Biochimie Pédiatrique, Hopital Debrousse, Lyon, France
    Mol Genet Metab 80:307-14. 2003
    ..Thus, G411D is the disease-causing mutation, while D313Y is the first coding sequence variant identified in the human alpha-Gal A gene...
  27. ncbi Active-site-specific chaperone therapy for Fabry disease. Yin and Yang of enzyme inhibitors
    Jian Qiang Fan
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY10029, USA
    FEBS J 274:4962-71. 2007
    ....
  28. ncbi Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy
    D F Moore
    Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, Clinical Center, National Institutes of Health, Bethesda, MD 20892-1260, USA
    Circulation 104:1506-12. 2001
    ..CONCLUSIONS: These findings suggest a chronic alteration of the nitric oxide pathway in Fabry disease, with critical protein nitration that is reversible with enzyme replacement therapy...
  29. ncbi Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography
    Junaid Shabbeer
    Department of Human Genetics, Mount Sinai School of Medicine of New York University, New York, New York 10029, USA
    Hum Mutat 25:299-305. 2005
    ..14 and 0.25 in both normal individuals and Fabry patients, respectively. This DHPLC method should improve the rapidity and cost-effectiveness of alpha-Gal A mutation identification in affected males and carrier females for Fabry disease...
  30. ncbi Fabry disease: overall effects of agalsidase alfa treatment
    M Beck
    Department of Paediatrics, University of Mainz, Mainz, Germany
    Eur J Clin Invest 34:838-44. 2004
    ..This paper presents the first analysis of the FOS database on the effects of ERT on renal function, heart size, pain and quality of life...
  31. ncbi The molecular defect leading to Fabry disease: structure of human alpha-galactosidase
    Scott C Garman
    Structural Biology Section, Laboratory of Immunogenetics, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Twinbrook II, 12441 Parklawn Drive, Rockville, MD 20852, USA
    J Mol Biol 337:319-35. 2004
    ..The structure of human alpha-GAL brings Fabry disease into the realm of molecular diseases, where insights into the structural basis of the disease phenotypes might help guide the clinical treatment of patients...
  32. pmc Recombinant enzyme therapy for Fabry disease: absence of editing of human alpha-galactosidase A mRNA
    Daniel Blom
    Department of Biochemistry, University of Amsterdam, Amsterdam, The Netherlands
    Am J Hum Genet 72:23-31. 2003
    ....
  33. ncbi Gastrointestinal symptoms in 342 patients with Fabry disease: prevalence and response to enzyme replacement therapy
    Bjoern Hoffmann
    Department of General Pediatrics, University Children s Hospital, Heinrich Heine University, Duesseldorf, Germany
    Clin Gastroenterol Hepatol 5:1447-53. 2007
    ....
  34. ncbi Rescue of mutant alpha-galactosidase A in the endoplasmic reticulum by 1-deoxygalactonojirimycin leads to trafficking to lysosomes
    Ryoji Hamanaka
    Department of Anatomy, Biology and Medicine, Faculty of Medicine, Oita University, Oita, Japan
    Biochim Biophys Acta 1782:408-13. 2008
    ..These data suggest that the rescue of R301Q from ERAD is a key step for normalization of intracellular trafficking of R301Q...
  35. ncbi AAV2 vector harboring a liver-restricted promoter facilitates sustained expression of therapeutic levels of alpha-galactosidase A and the induction of immune tolerance in Fabry mice
    Robin J Ziegler
    Genzyme Corporation, 31 New York Avenue, Framingham, MA 01701 9322, USA
    Mol Ther 9:231-40. 2004
    ..Together, these results demonstrate that AAV2-mediated gene transfer that limits the expression of alpha-galactosidase A to the liver may be a viable strategy for treating Fabry disease...
  36. ncbi Recommendations and guidelines for the diagnosis and treatment of Fabry nephropathy in adults
    Alberto Ortiz
    Dialysis Unit, Universidad Autonoma de Madrid, Fundacion Jimenez Diaz, Avenida Reyes Catolicos 2, 28040 Madrid, Spain
    Nat Clin Pract Nephrol 4:327-36. 2008
    ..These organ-specific guidelines could be easier to implement than general guidelines, provided they are used in the context of an overall multisystem care approach...
  37. ncbi Enzyme replacement therapy in Fabry disease
    R O Brady
    Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892 1260, USA
    J Inherit Metab Dis 24:18-24; discussion 11-2. 2001
    ..These findings show that enzyme replacement therapy offers promise as an effective management strategy for patients with Fabry disease...
  38. pmc Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone
    Sang H Shin
    Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke NIH, Bethesda, MD 20892, USA
    Pharmacogenet Genomics 18:773-80. 2008
    ..To examine the relationship between types and locations of mutations of the enzyme alpha-galactosidase (Gal) A in Fabry disease and the response to the pharmacological chaperone 1-deoxygalactonojirimycin (DGJ)...
  39. ncbi Anderson-Fabry disease: a case-finding study among male kidney transplant recipients in Austria
    Julia Kleinert
    Division of Nephrology and Dialysis, Department of Medicine III, Medical University Vienna, Vienna, Austria
    Transpl Int 22:287-92. 2009
    ..Case-finding strategies may be considered a useful tool for diagnosis of this rare disease that may be somewhat more prevalent among kidney transplant recipients compared with dialysis populations...
  40. ncbi Assessment of health-related quality-of-life in males with Anderson Fabry Disease before therapeutic intervention
    A H Miners
    Royal Free Centre for HIV Medicine, Department of Primary Care and Population Sciences, London, UK
    Qual Life Res 11:127-33. 2002
    ..These findings suggest therefore, that the scope for improvement in HR-QoL as a result of treatment with an appropriate agent is extremely large...
  41. ncbi Clinical benefit of enzyme replacement therapy in Fabry disease
    F Breunig
    Department of Medicine, Division of Nephrology, University Hospital, Wurzburg, Germany
    Kidney Int 69:1216-21. 2006
    ..7+/-0.7 mm, P = 0.04). Proteinuria remained unchanged (1.34 +/- 0.94 vs 1.01 +/- 0.97 g/day, n = 10). Patients with impaired renal function have a less favorable outcome and may develop cardiovascular and renal end points despite ERT...
  42. ncbi Agalsidase alfa slows the decline in renal function in patients with Fabry disease
    Sandro Feriozzi
    Nephrology and Dialysis, Belcolle Hospital, Strada Sammartinese snc, Viterbo, Italy
    Am J Nephrol 29:353-61. 2009
    ..Agalsidase alpha in combination with ACE inhibitors/ARB may be effective in slowing the deterioration in renal function in Fabry nephropathy...
  43. ncbi A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease
    Karen Lee
    Cell and Protein Therapeutics, Genzyme Corporation, PO Box 9322, Framingham, MA 01701 9322, USA
    Glycobiology 13:305-13. 2003
    ..Therefore, the data from these studies provide no rationale for the use of these proteins at different therapeutic doses...
  44. ncbi Screening for Fabry disease in high-risk populations: a systematic review
    G E Linthorst
    Department of Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam, The Netherlands
    J Med Genet 47:217-22. 2010
    ..Several studies investigated FD prevalence in populations expressing these symptoms. A systematic review was conducted to calculate the overall prevalence of FD in these cohorts...
  45. ncbi Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy
    Robert J Desnick
    Department of Human Genetics, Box 1498, Mount Sinai School of Medicine, Fifth Avenue at 100th Street, New York, NY 10029, USA
    Ann Intern Med 138:338-46. 2003
    ....
  46. ncbi Enzyme replacement in Anderson-Fabry disease
    Bengt Ake Bengtsson
    Lancet 361:352. 2003
  47. ncbi Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk
    Johanna M P Van den Hout
    Department of Pediatrics, Division of Metabolic Diseases and Genetics, Erasmus MC Sophia, Rotterdam, Rotterdam, The Netherlands
    Pediatrics 113:e448-57. 2004
    ..Loss of muscle strength prevents infants from achieving developmental milestones such as sitting, standing, and walking. Milder forms of the disease are associated with less severe mutations and partial deficiency of alpha-glucosidase...
  48. ncbi Distribution of alpha-galactosidase A in normal human kidney and renal accumulation and distribution of recombinant alpha-galactosidase A in Fabry mice
    Erik I Christensen
    Department of Cell Biology, Institute of Anatomy, Wilh Meyers Alle, Building 234, University of Aarhus, DK 8000 Aarhus C, Denmark
    J Am Soc Nephrol 18:698-706. 2007
    ....
  49. ncbi Enzyme replacement therapy with agalsidase alfa in children with Fabry disease
    U Ramaswami
    Department of Paediatric Endocrinology, Diabetes and Metabolism, Addenbrooke s University Teaching Hospital, Cambridge, UK
    Acta Paediatr 96:122-7. 2007
    ..To assess the effects of enzyme replacement therapy (ERT) in children with Fabry disease...
  50. ncbi Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease
    Markus Ries
    Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892 1260, USA
    Pediatrics 118:924-32. 2006
    ..This prompted a study of the safety and efficacy of enzyme replacement at an earlier stage of Fabry disease...
  51. ncbi Transgenic mouse expressing human mutant alpha-galactosidase A in an endogenous enzyme deficient background: a biochemical animal model for studying active-site specific chaperone therapy for Fabry disease
    Satoshi Ishii
    Department of Human Genetics, Mount Sinai School of Medicine, Fifth Avenue at 100th Street, New York, NY 10029, USA
    Biochim Biophys Acta 1690:250-7. 2004
    ..These TgM/KO mice and TMK cells are useful tools for studying the mechanism of ASSC therapy, and for screening ASSCs for Fabry disease...
  52. ncbi Enzyme replacement therapy and renal function in 201 patients with Fabry disease
    A Schwarting
    Department of Nephrology, University of Mainz, Mainz, Germany
    Clin Nephrol 66:77-84. 2006
    ..We examined the effects of enzyme replacement therapy (ERT) with Agalsidase-alpha on renal function using data from a large international database, the Fabry Outcome Survey (FOS)...
  53. ncbi Agalsidase alpha and hearing in Fabry disease: data from the Fabry Outcome Survey
    D Hajioff
    Southmead Hospital, Bristol, UK
    Eur J Clin Invest 36:663-7. 2006
    ..05). Agalsidase alpha stabilizes, and possibly improves, hearing in Fabry patients who have not already progressed to severe hearing loss. Further follow-up of these patients will determine the longer-term effects of ERT...
  54. ncbi Enzyme replacement therapy for Fabry disease: lessons from two alpha-galactosidase A orphan products and one FDA approval
    Robert J Desnick
    Department of Human Genetics, Box 1498, Mount Sinai School of Medicine, Fifth Avenue at 100th St, New York, NY 10029, USA
    Expert Opin Biol Ther 4:1167-76. 2004
    ..The process also highlighted important issues in the evaluation of drugs to treat life-threatening genetic diseases for which the pathological basis is well-defined...
  55. ncbi Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype
    G A Ashley
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
    J Hum Genet 46:192-6. 2001
    ..These studies further define the heterogeneity of mutations in the alpha-Gal A gene causing the classic Fabry disease phenotype, and permit precise heterozygote detection and prenatal diagnosis...
  56. ncbi Disease manifestations and X inactivation in heterozygous females with Fabry disease
    Esther M Maier
    Research Centre, Department of Biochemical Genetics and Molecular Biology, Dr von Hauner Children s Hospital, Ludwig Maximilian University, Munich, Germany
    Acta Paediatr Suppl 95:30-8. 2006
    ..The current hypothesis for the occurrence of disease manifestations in females is skewed X inactivation favouring the mutant GLA allele...
  57. pmc Long-term safety and efficacy of enzyme replacement therapy for Fabry disease
    William R Wilcox
    Cedars Sinai Burns and Allen Research Institute and UCLA School of Medicine, Los Angeles, CA, USA
    Am J Hum Genet 75:65-74. 2004
    ..Thus, enzyme replacement therapy for 30-36 mo with agalsidase beta resulted in continuously decreased plasma GL-3 levels, sustained endothelial GL-3 clearance, stable kidney function, and a favorable safety profile...
  58. ncbi Treatment of Fabry disease with different dosing regimens of agalsidase: effects on antibody formation and GL-3
    Anouk C Vedder
    Department of Internal Medicine Endocrinology and Metabolism, Academic Medical Center, F4 224, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    Mol Genet Metab 94:319-25. 2008
    ..Infusion of a dose of 1.0mg/kg results in a more robust decline in GL-3, less impact, if any of antibodies, stable renal function and reduction of LVMass...
  59. ncbi Enzyme replacement therapy in Fabry disease patients undergoing dialysis: effects on quality of life and organ involvement
    Antonio Pisani
    Chairs of Nephrology, Internal Medicine and Cardiology, and Pediatrics, University Federico II, Naples, USA
    Am J Kidney Dis 46:120-7. 2005
    ..For patients with Fabry disease undergoing dialysis, death usually occurs from cardiac or cerebrovascular complications. Recently, enzyme replacement therapy was introduced for treatment of the disease...
  60. ncbi Enzyme replacement therapy in Fabry's disease: recent advances and clinical applications
    Renzo Mignani
    Department of Nephrology and Dialysis, Infermi Hospital, Rimini, Italy
    J Nephrol 17:354-63. 2004
    ..We reviewed the clinical trial observations, as well as subsequent clinical experiences with ERT in patients with Fabry's disease...
  61. ncbi Monitoring enzyme replacement therapy in Fabry disease--role of urine globotriaosylceramide
    P D Whitfield
    Biochemical Genetics Unit, Addenbrooke s NHS Trust, Cambridge, UK
    J Inherit Metab Dis 28:21-33. 2005
    ....
  62. ncbi Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course
    Mary H Branton
    Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Disease, National Institutes of Health, Bethesda, Maryland 20892 1268, USA
    Medicine (Baltimore) 81:122-38. 2002
  63. ncbi 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
    ....
  64. ncbi A contradictory treatment for lysosomal storage disorders: inhibitors enhance mutant enzyme activity
    Jian Qiang Fan
    Mount Sinai School of Medicine, Department of Human Genetics, 5th Avenue at 100th Street, New York, NY 10029, USA
    Trends Pharmacol Sci 24:355-60. 2003
  65. ncbi Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life
    Raymond Y Wang
    Medical Genetics Institute, Department of Pediatrics, Cedars Sinai Medical Center, UCLA School of Medicine, Los Angeles, California 90048, USA
    Genet Med 9:34-45. 2007
    ..To determine if there is significant symptomatology in women with heterozygous alpha-galactosidase mutations...
  66. ncbi Nature and prevalence of pain in Fabry disease and its response to enzyme replacement therapy--a retrospective analysis from the Fabry Outcome Survey
    Bjoern Hoffmann
    University Children s Hospital, Heinrich Heine University Duesseldorf, Germany
    Clin J Pain 23:535-42. 2007
    ..Fabry disease is a multisystemic life-threatening lysosomal storage disorder caused by deficiency of alpha-galactosidase A. Symptoms of the disease may occur in different organs including kidney, heart, and the nervous system...
  67. ncbi Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease
    Raphael Schiffmann
    Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke National Institutes of Health, Building 10, Room 3D03, 9000 Rockville Pike, Bethesda, MD 20892 1260, USA
    Muscle Nerve 28:703-10. 2003
    ..QSART may be useful to further optimize the dose and frequency of ERT...
  68. ncbi Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey
    A Mehta
    University College London, London, UK
    Eur J Clin Invest 34:236-42. 2004
    ..This paper presents the first analysis of the FOS database and provides essential baseline data against which the effects of enzyme replacement can be measured...
  69. ncbi Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype
    Junaid Shabbeer
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
    Mol Genet Metab 76:23-30. 2002
    ..These studies further define the heterogeneity of mutations in the alpha-Gal A gene causing the classical Fabry disease phenotype, and permit precise carrier detection and prenatal diagnosis in these families...
  70. ncbi Comparative evaluation of alpha-galactosidase A infusions for treatment of Fabry disease
    Robert J Hopkin
    Division and Program in Human Genetics, Cincinnati Children s Research Foundation, Cincinnati, Ohio 45229 3039, USA
    Genet Med 5:144-53. 2003
    ..In addition, the need for additional long-term data is emphasized because this is not attainable in short-term trials for a chronic disease...
  71. pmc Myofilament degradation and dysfunction of human cardiomyocytes in Fabry disease
    Cristina Chimenti
    Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele La Pisana, Rome, Italy
    Am J Pathol 172:1482-90. 2008
    ..Partial reversal of high resting tension after pharmacological PKA treatment of cardiomyocytes suggests potential benefits from enzyme replacement therapy and/or energy-releasing agents...
  72. ncbi Improvement of sympathetic skin responses under enzyme replacement therapy in Fabry disease
    L B Jardim
    Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil
    J Inherit Metab Dis 29:653-9. 2006
    ..To report the effect of enzyme replacement therapy (ERT) in sympathetic skin responses (SSR) of patients with Fabry disease...
  73. ncbi Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study
    Arndt Rolfs
    Department of Neurology, University of Rostock, Rostock, Germany
    Lancet 366:1794-6. 2005
    ..To determine the importance of Fabry disease in young people with stroke, we measured the frequency of unrecognised Fabry disease in a cohort of acute stroke patients...
  74. pmc Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement
    Raphael Schiffmann
    Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA
    Virchows Arch 448:337-43. 2006
    ..These findings also illustrate accelerated atherosclerosis in susceptible patients with Fabry disease...
  75. ncbi An association study of inflammatory cytokine gene polymorphisms in Fabry disease
    Rachael Safyan
    Gaucher Clinic, Shaare Zedek Medical Center, PO Box 3235, Jerusalem 91031, Israel
    Eur Cytokine Netw 17:271-5. 2006
    ..The aim of the study was to evaluate functional gene polymorphisms of key pro- and anti-inflammatory cytokines and to correlate them to a clinical score to assess the potential role of inflammation in Fabry disease...
  76. ncbi Fabry disease model: a rational approach to the management of Fabry disease
    Christoph Wanner
    University of Wurzburg, Department of Medicine, Division of Nephrology, University Hospital Wurzburg, Wurzburg, Germany
    Clin Ther 29:S2-5. 2007
    ....
  77. ncbi Enzyme replacement therapy with agalsidase beta improves cardiac involvement in Fabry's disease
    L Spinelli
    Department of Cardiology, University Federico II, Naples, Italy
    Clin Genet 66:158-65. 2004
    ..001). These results suggest that ERT in patients with Fabry cardiomyopathy is able to reduce the LV mass and ameliorate the LV stiffness...
  78. ncbi Enzyme replacement in Fabry disease: pharmacokinetics and pharmacodynamics of agalsidase alpha in children and adolescents
    Markus Ries
    Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 10, Room 3D03, 9000 Rockville Pike, Bethesda, MD 20892 1260, USA
    J Clin Pharmacol 47:1222-30. 2007
    ..Except for clearance in younger patients, agalsidase alpha appears to have comparable pharmacokinetic and pharmacodynamic profiles in pediatric and adult Fabry patients of both genders...
  79. ncbi Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy
    Lorenzo Monserrat
    Complejo Hospitalario Universitario Juan Canalejo, A Coruna, Spain
    J Am Coll Cardiol 50:2399-403. 2007
    ..We aimed to study the prevalence of Fabry disease (FD) in patients with hypertrophic cardiomyopathy (HCM)...
  80. ncbi Hearing loss in Fabry disease: the effect of agalsidase alfa replacement therapy
    D Hajioff
    Department of Otolaryngology, Royal Free Hospital, Pond Street, London NW3 2QG, UK
    J Inherit Metab Dis 26:787-94. 2003
    ..alpha-Galactosidase A replacement therapy with agalsidase alfa appears to reverse the hearing deterioration in these patients. This improvement is gradual, however, suggesting the need for long-term enzyme replacement therapy...
  81. ncbi Effect of pH on Lactobacillus fermentum growth, raffinose removal, alpha-galactosidase activity and fermentation products
    J G LeBlanc
    Centro de Referencia para Lactobacilos CERELA CONICET, Chacabuco 145, San Miguel de Tucuman, 4000 Tucuman, Argentina
    Appl Microbiol Biotechnol 65:119-23. 2004
    ..The results of this study will allow selection of the optimum growth conditions of L. fermentum with elevated levels of alpha-gal to be used in the reduction of NDO in soy products when used as starter cultures...
  82. ncbi Correlation between interleukin-6 promoter and C-reactive protein (CRP) polymorphisms and CRP levels with the Mainz Severity Score Index for Fabry disease
    G Altarescu
    Genetic Unit, Shaare Zedek Medical Center, Hebrew University, Jerusalem, Israel
    J Inherit Metab Dis 31:117-23. 2008
    ..Elevated interleukin-6 (IL-6) plasma levels and C-reactive protein (CRP) serum levels are associated with increased risk and worse outcome of ischaemic events, a serious prognostic sign in Fabry disease...
  83. ncbi Painful fingers, heat intolerance, and telangiectases of the ear: easily ignored childhood signs of Fabry disease
    E D Shelley
    Department of Medicine, Medical College of Ohio, Toledo 43699, USA
    Pediatr Dermatol 12:215-9. 1995
    ..Carrier females are most easily recognized by the presence of unique corneal opacities...
  84. ncbi Apoptotic abnormalities in differential gene expression in peripheral blood mononuclear cells from children with Fabry disease
    David F Moore
    Section of Neurology, University of Manitoba, Winnipeg, Canada
    Acta Paediatr Suppl 97:48-52. 2008
    ..This study was designed to examine the effect of enzyme replacement therapy (ERT) on differential gene expression in peripheral blood mononuclear cells (PBMCs) of children with Fabry disease who had not previously been exposed to ERT...
  85. pmc Adeno-associated viral vector-mediated gene transfer results in long-term enzymatic and functional correction in multiple organs of Fabry mice
    S C Jung
    Developmental and Metabolic Neurology Branch, National Institute of Allergy and Infectious Diseases, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 98:2676-81. 2001
    ..Also, no signs of liver toxicity occurred after the rAAV-AGA administration. These findings suggest that an AAV-mediated gene transfer may be useful for the treatment of Fabry disease and possibly other metabolic disorders...
  86. ncbi Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta
    Gabor E Linthorst
    Department of Internal Medicine Clinical Hematology, Academic Medical Center, Amsterdam, The Netherlands
    Kidney Int 66:1589-95. 2004
    ..Two recombinant enzyme preparations have been approved as treatment modality. We studied emergence and properties of alpha-Gal A antibodies in treated patients...
  87. ncbi Chronic renal failure, dialysis, and renal transplantation in Anderson-Fabry disease
    Adalberto Sessa
    Department of Nephrology and Dialysis, Ospedale di Vimercate, Vimercate, Italy
    Semin Nephrol 24:532-6. 2004
    ....
  88. ncbi Lactobacillus fermentum CRL 722 is able to deliver active alpha-galactosidase activity in the small intestine of rats
    Jean Guy LeBlanc
    Centro de Referencia para Lactobacilos CERELA CONICET Chacabuco 145, San Miguel de Tucuman, Tucuman, Argentina T4000ILC
    FEMS Microbiol Lett 248:177-82. 2005
    ..The safety of this LAB was also assessed. L. fermentum CRL 722 could thus be used as a vehicle to safely confer alpha-Gal in the small intestine of monogastric animal...
  89. ncbi Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey
    Uma Ramaswami
    Department of Paediatric Endocrinology, Diabetes and Metabolism, Addenbrooke s Hospital, Cambridge, UK
    Acta Paediatr 95:86-92. 2006
    ..This produces progressive lysosomal accumulation of globotriaosylceramide throughout the body, leading to organ failure and premature death...
  90. ncbi Manifestations of Fabry disease in placental tissue
    A C Vedder
    Department of Internal Medicine Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands
    J Inherit Metab Dis 29:106-11. 2006
    ..As complications develop only around the age of 10 years, it may be not the CTH itself but secondary processes that cause cellular and organ damage...
  91. ncbi Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting
    Raphael Schiffmann
    Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke National Institutes of Health, Bethesda, MD 20892 1260, USA
    Nephrol Dial Transplant 21:345-54. 2006
    ..Our objective is to describe the safety and renal effects of long-term enzyme replacement therapy...
  92. pmc alpha-Galactosidase A deficient mice: a model of Fabry disease
    T Ohshima
    Gene Targeting Research and Core Facility, National Institute of Dental Research, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 94:2540-4. 1997
    ....
  93. ncbi Fabry disease: guidelines for the evaluation and management of multi-organ system involvement
    Christine M Eng
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Genet Med 8:539-48. 2006
    ....
  94. ncbi Identification of four novel mutations in five unrelated Korean families with Fabry disease
    J K Lee
    Department of Neurology, Ulsan University College of Medicine, Asan Medical Center, Seoul, Korea
    Clin Genet 58:228-33. 2000
    ..In addition, the 802del4 was found to be a de novo mutation. This is the first report on mutation analysis of the human alpha-galactosidase A gene in Korean patients with Fabry disease...
  95. pmc Fabry disease: preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice
    Y A Ioannou
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
    Am J Hum Genet 68:14-25. 2001
    ....
  96. ncbi A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population
    Miroslav Merta
    Department of Nephrology, 1st Medical Faculty of Charles University and General Faculty Hospital, Prague, Czech Republic
    Nephrol Dial Transplant 22:179-86. 2007
    ..We aimed to uncover previously undiagnosed FD patients, to enable them to benefit from cause-specific therapeutic intervention with enzyme replacement therapy (ERT)...
  97. ncbi Molecular genetic, biochemical, and clinical studies in three families with cardiac Fabry's disease
    T Yoshitama
    The First Department of Internal Medicine, Faculty of Medicine, Kagoshima University, Japan
    Am J Cardiol 87:71-5. 2001
    ..Patients with cardiac Fabry's disease thus show an x-linked form of hypertrophic cardiomyopathy...
  98. ncbi Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease
    J Edmond Wraith
    Royal Manchester Children s Hospital, Manchester, United Kingdom
    J Pediatr 152:563-70, 570.e1. 2008
    ....
  99. ncbi Results of a nationwide screening for Anderson-Fabry disease among dialysis patients
    Peter Kotanko
    Krankenhaus der Barmherzigen Bruder, Teaching Hospital of the Karl Franzens University Graz, Department of Internal Medicine, Graz, Austria
    J Am Soc Nephrol 15:1323-9. 2004
    ..In dialysis patients, however, there is no evidence to support enzyme replacement therapy at present...
  100. doi Enzyme replacement therapy in Fabry disease: comparison of agalsidase alfa and agalsidase beta
    Atul Mehta
    Mol Genet Metab 95:114-5. 2008
  101. ncbi Enzyme replacement therapy with agalsidase alfa in a cohort of Italian patients with Anderson-Fabry disease: testing the effects with the Mainz Severity Score Index
    R Parini
    Rare Metabolic Diseases Unit Fondazione Mariani, Pediatric Clinic, Azienda Ospedaliera San Gerardo, Monza, Italy
    Clin Genet 74:260-6. 2008
    ..In conclusion, the MSSI is a sensitive and useful tool for monitoring disease progression and assessing the effects of ERT in a population of patients from different treatment centres...

Research Grants25

  1. Enhancement of Gene Therapy Outcomes for Fabry Disease
    Jeffrey Medin; Fiscal Year: 2004
    ..Hypothesis: Co-overexpression of the prosaposin gene, a protein co-factor for the a-gal A enzyme, leads to higher catalytic activity in genetically corrected cells than overexpression of a-gal A alone. ..
  2. Salivary gland-based gene therapy for lysosomal storage diseases
    Michael J Passineau; Fiscal Year: 2010
    ..abstract_text> ..
  3. CHEMISTRY AND METABOLISM OF SPHINGOLIPIDS & GLYCOPROTEIN
    CHARLES SWEELEY; Fiscal Year: 1991
    ..A method will be developed for the analysis of human serum glycosphingolipids and used to assess the presence and structural nature of shed glycosphingolipids in various neoplasias...
  4. FABRY DISEASE: MOLECULAR AND MODEL THERAPEUTIC STUDIES
    ROBERT DESNICK; Fiscal Year: 1991
    ..In addition, the genomic and cDNA sequences of Alpha-Gal A will be used to investigate the nature of the molecular defect(s) in cell lines from unrelated patients and variants with Fabry disease...
  5. STRUCTURE/FUNCTION OF X GALACTOSIDASE
    Alex Zhu; Fiscal Year: 2000
    ..Furthermore, amino acid residues in the enzyme mutants which are responsible for these functional alterations will be localized and characterized. ..
  6. Salivary gland-based gene therapy for lysosomal storage diseases
    MICHAEL PASSINEAU; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  7. THERAPY OF GENETIC DISEASES
    ROBERT DESNICK; Fiscal Year: 1980
    ....
  8. ALPHA-GALACTOSIDASES A, B--MOLECULAR/CELLULAR MECHANISM
    ROBERT DESNICK; Fiscal Year: 1999
    ..These studies should provide fundamental understanding of the molecular and cellular mechanisms of these two related glycosidases in health and disease. ..
  9. COFFEE GLACTOSIDASE CDNA CLONING FOR BLOOD PROCESSING
    JOHN IVY; Fiscal Year: 1991
    ....
  10. Antigen Presentation Pathway by CD1 Molecules
    Mitchell Kronenberg; Fiscal Year: 2006
    ..The results from these studies will aid in our understanding of lipid antigen presentation, and they should help in the design of lipid antigen-based vaccines and in attempts to alter immune regulation by stimulating NK T cells. ..
  11. Pathology of the FSGS Kidney
    Agnes B Fogo; Fiscal Year: 2010
    ..These approaches could ultimately identify novel therapeutic targets in FSGS. ..
  12. Xenograft-like rejection of tumors in a-gal glycolipids
    URI GALILI GALILI; Fiscal Year: 2010
    ..We will study this treatment in a unique mouse model that simulates the pertinent human immunological parameters. Success in the studies in the mouse model will enable us to apply this treatment to cancer patients. ..
  13. INCREASE/gp120 IMMUNOGENICITY/LINKED ALPHA-GAL EPITOPES
    Uri Galili; Fiscal Year: 2005
    ..We will then also collaborate with a group studying immune responses in monkeys to determine the efficacy of this vaccine in a primate model. ..
  14. Mechanisms of MMP-3 Action in Acute Lung Injury
    James Varani; Fiscal Year: 2005
    ..These studies will provide an overall understanding of the mechanism(s) by which MMP-3 contributes to acute lung injury. ..
  15. TOPICAL RETINOIDS FOR DIABETIC FOOT ULCERS
    James Varani; Fiscal Year: 2003
    ..abstract_text> ..
  16. PREVENTING ANTI-GAL PRODUCTION AGAINST XENOGRAFTS
    Uri Galili; Fiscal Year: 2003
    ..Success in these studies will help in planning effective treatments for preventing anti-Gal response in primate xenografts recipients. | ..
  17. SQUAMOUS EPITHELIAL CELL INVASION IN ORGAN CULTURE
    James Varani; Fiscal Year: 2001
    ..abstract_text> ..
  18. Structure of signal peptide peptidase
    RAQUEL LIEBERMAN; Fiscal Year: 2008
    ..This first structure of an intramembrane protease will provide critical insight into the biochemistry of intramembrane proteolysis and enable structure- based AD drug development and screening. ..
  19. PORPHYRIA AND HUMAN HEME BIOSYNTHESIS
    Robert J Desnick; Fiscal Year: 2010
    ..Viable CEP mice should permit studies of the disease pathophysiology and future therapeutic endeavors. ..
  20. CHIMERIC RNA/DNA OLIGONUCLEOTIDE BASED GENE THERAPY
    YEONG HAU LIEN; Fiscal Year: 2003
    ..This preclinical study will provide critical information for future development of optimal gene targeting therapy for treating hereditary renal diseases, such as autosomal dominant polycystic kidney disease. ..
  21. MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES
    ROBERT DESNICK; Fiscal Year: 2007
    ..It is anticipated that these trainees will continue the tradition of this program by becoming basic and/or clinical researchers in the field of human genetics and mental retardation. [unreadable] [unreadable]..