fabry disease

Summary

Summary: Lysosomal storage disease caused by a deficiency of alpha-galactosidase A and resulting in an accumulation of globotriaosylceramide in the renal and cardiovascular systems. The disease is X-linked and is characterized by telangiectatic skin lesions, renal failure, and disturbances of the cardiovascular, gastrointestinal, and central nervous systems.

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. pmc Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation
    David G Warnock
    University of Alabama at Birmingham, Birmingham, AL, USA
    Nephrol Dial Transplant 27:1042-9. 2012
  3. ncbi Fabry disease
    Raphael Schiffmann
    Institute of Metabolic Disease, Baylor Research Institute, 3812 Elm Street, Dallas, TX 75226, USA
    Pharmacol Ther 122:65-77. 2009
  4. pmc Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment outcome
    Saskia M Rombach
    Department of Endocrinology and Metabolism, Division of Internal Medicine, Academic Medical Center, Amsterdam, The Netherlands
    PLoS ONE 7:e47805. 2012
  5. pmc Agalsidase benefits renal histology in young patients with Fabry disease
    Camilla Tøndel
    Renal Research Group, Institute of Medicine, University of Bergen, Haukeland University Hospital, N 5021 Bergen, Norway
    J Am Soc Nephrol 24:137-48. 2013
  6. ncbi Identification and assessment of Anderson-Fabry disease by cardiovascular magnetic resonance noncontrast myocardial T1 mapping
    Daniel M Sado
    The Heart Hospital, London, UK
    Circ Cardiovasc Imaging 6:392-8. 2013
  7. ncbi Cellular and tissue localization of globotriaosylceramide in Fabry disease
    Hasan Askari
    Developmental and Metabolic Neurology Branch, NINDS, National Institutes of Health, Building 10, Room 3D03, 9000 Rockville Pike, Bethesda, MD 20892 1260, USA
    Virchows Arch 451:823-34. 2007
  8. ncbi Vasculopathy in patients with Fabry disease: current controversies and research directions
    S M Rombach
    Department of Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands
    Mol Genet Metab 99:99-108. 2010
  9. ncbi Long-term effects of enzyme replacement therapy on fabry cardiomyopathy: evidence for a better outcome with early treatment
    Frank Weidemann
    Medizinische Klinik und Poliklinik I, Universitätsklinik Würzburg, Josef Schneider Str 2, Bau 4, 97080 Wurzburg, Germany
    Circulation 119:524-9. 2009
  10. ncbi Fabry disease, enzyme replacement therapy and the significance of antibody responses
    Patrick B Deegan
    Department of Medicine, Addenbrooke s Hospital, Cambridge, CB2 2QQ, UK
    J Inherit Metab Dis 35:227-43. 2012

Detail Information

Publications320 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
    b>Fabry disease is an X-linked lysosomal storage disease caused by deficiency of alpha-galactosidase A that affects males and shows disease expression in heterozygotes...
  2. pmc Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation
    David G Warnock
    University of Alabama at Birmingham, Birmingham, AL, USA
    Nephrol Dial Transplant 27:1042-9. 2012
    The purpose of this study was to identify determinants of renal disease progression in adults with Fabry disease during treatment with agalsidase beta.
  3. ncbi Fabry disease
    Raphael Schiffmann
    Institute of Metabolic Disease, Baylor Research Institute, 3812 Elm Street, Dallas, TX 75226, USA
    Pharmacol Ther 122:65-77. 2009
    b>Fabry disease, an X-linked disorder of glycosphingolipids that is caused by the deficiency of alpha-galactosidase A, is associated with dysfunction of many cell types and includes a systemic vasculopathy...
  4. pmc Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment outcome
    Saskia M Rombach
    Department of Endocrinology and Metabolism, Division of Internal Medicine, Academic Medical Center, Amsterdam, The Netherlands
    PLoS ONE 7:e47805. 2012
    ..ERT) with alpha-Galactosidase A (aGal A) may cause antibody (AB) formation against aGal A in males with Fabry disease (FD). Anti agalsidase ABs negatively influence globotriaosylceramide (Gb3) reduction...
  5. pmc Agalsidase benefits renal histology in young patients with Fabry disease
    Camilla Tøndel
    Renal Research Group, Institute of Medicine, University of Bergen, Haukeland University Hospital, N 5021 Bergen, Norway
    J Am Soc Nephrol 24:137-48. 2013
    The effect of early-onset enzyme replacement therapy on renal morphologic features in Fabry disease is largely unknown...
  6. ncbi Identification and assessment of Anderson-Fabry disease by cardiovascular magnetic resonance noncontrast myocardial T1 mapping
    Daniel M Sado
    The Heart Hospital, London, UK
    Circ Cardiovasc Imaging 6:392-8. 2013
    Anderson-Fabry disease (AFD) is a rare but underdiagnosed intracellular lipid disorder that can cause left ventricular hypertrophy (LVH). Lipid is known to shorten the magnetic resonance imaging parameter T1...
  7. ncbi Cellular and tissue localization of globotriaosylceramide in Fabry disease
    Hasan Askari
    Developmental and Metabolic Neurology Branch, NINDS, National Institutes of Health, Building 10, Room 3D03, 9000 Rockville Pike, Bethesda, MD 20892 1260, USA
    Virchows Arch 451:823-34. 2007
    The pathogenesis of Fabry disease is poorly understood. We used a variety of immunohistological techniques to localize globotriaosylceramide, the main glycolipid that accumulates in Fabry disease...
  8. ncbi Vasculopathy in patients with Fabry disease: current controversies and research directions
    S M Rombach
    Department of Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands
    Mol Genet Metab 99:99-108. 2010
    b>Fabry disease is an X-linked lysosomal storage disorder due to deficiency of the enzyme alpha-galactosidase A...
  9. ncbi Long-term effects of enzyme replacement therapy on fabry cardiomyopathy: evidence for a better outcome with early treatment
    Frank Weidemann
    Medizinische Klinik und Poliklinik I, Universitätsklinik Würzburg, Josef Schneider Str 2, Bau 4, 97080 Wurzburg, Germany
    Circulation 119:524-9. 2009
    ..A reduces left ventricular hypertrophy and improves regional myocardial function in patients with Fabry disease during short-term treatment...
  10. ncbi Fabry disease, enzyme replacement therapy and the significance of antibody responses
    Patrick B Deegan
    Department of Medicine, Addenbrooke s Hospital, Cambridge, CB2 2QQ, UK
    J Inherit Metab Dis 35:227-43. 2012
    b>Fabry disease is an X-linked disorder caused by a deficiency of α-galactosidase A. This leads to a progressive accumulation of globotriaosylceramide in tissues throughout the body...
  11. pmc Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg
    Anouk C Vedder
    Department of Internal Medicine Endocrinology and Metabolism, Academic Medical Center, Amsterdam, Netherlands Department of Medical Biochenmistry, Academic Medical Center University of Amsterdam, Amsterdam, Netherlands
    PLoS ONE 2:e598. 2007
    ..agalsidase alfa (Replagal(TM), Shire) and beta (Fabrazyme(TM), Genzyme), are registered for treatment of Fabry disease. We compared the efficacy of and tolerability towards the two agalsidase preparations administered at ..
  12. ncbi Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry
    Katherine Sims
    Center for Human Genetic Research and Neurology Department, Massachusetts General Hospital and Harvard Medical School, Boston, Mass 02114, USA
    Stroke 40:788-94. 2009
    Stroke is a common and serious clinical manifestation of Fabry disease, an X-linked lysosomal storage disorder caused by deficiency of alpha-galactosidase A activity...
  13. 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
    ....
  14. 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
    b>Fabry disease, a lysosomal storage disease caused by deficient lysosomal alpha-galactosidase A activity, is characterized by globotriaosylceramide (GL-3) accumulation in multiple cell types, particularly the vasculature, leading to end ..
  15. 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
  16. 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
    b>Fabry disease is a rare X-linked disorder caused by deficient activity of the lysosomal enzyme alpha-galactosidase A...
  17. pmc Fabry disease
    Dominique P Germain
    University of Versailles St Quentin en Yvelines, Faculté de Médecine Paris Ile de France Ouest PIFO, 78035 Versailles, France
    Orphanet J Rare Dis 5:30. 2010
    b>Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal α-galactosidase A activity...
  18. pmc Agalsidase alfa and kidney dysfunction in Fabry disease
    Michael West
    Division of Nephrology, Department of Medicine, Dalhousie University, 5090 ACC QE II Health Sciences Centre, 5820 University Avenue, Halifax, NS, Canada B3H 1V8
    J Am Soc Nephrol 20:1132-9. 2009
    In male patients with Fabry disease, an X-linked disorder of glycosphingolipid metabolism caused by deficient activity of the lysosomal enzyme alpha-galactosidase A, kidney dysfunction becomes apparent by the third decade of life and ..
  19. ncbi Differences in Fabry cardiomyopathy between female and male patients: consequences for diagnostic assessment
    Markus Niemann
    Department of Internal Medicine I, University of Wurzburg, Wurzburg, Germany
    JACC Cardiovasc Imaging 4:592-601. 2011
    We hypothesized that Fabry cardiomyopathy in female patients might differ substantially from that in male patients and sought to prove this hypothesis in a large cohort consisting of 104 patients with Fabry disease.
  20. pmc Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel
    Alessandro P Burlina
    Neurological Unit, St Bassiano Hospital, Bassano del Grappa, Italy
    BMC Neurol 11:61. 2011
    b>Fabry disease is an inherited metabolic disorder characterized by progressive lysosomal accumulation of lipids in a variety of cell types, including neural cells...
  21. ncbi Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data
    A Mehta
    University College London, London, UK
    Lancet 374:1986-96. 2009
    ..We analysed 5-year treatment with agalsidase alfa enzyme replacement therapy in patients with Fabry's disease who were enrolled in the Fabry Outcome Survey observational database (FOS)...
  22. ncbi Brain MRI findings in patients with Fabry disease
    Ricardo C Reisin
    Neurology Department, Hospital Britanico de Buenos Aires, Argentina
    J Neurol Sci 305:41-4. 2011
    To evaluate the presence of ischemic and hemorrhagic lesions in brain MRI of patients with Fabry disease (FD).
  23. ncbi Small fibers in Fabry disease: baseline and follow-up data under enzyme replacement therapy
    Nurcan Uceyler
    Department of Neurology, University of Wurzburg, Wurzburg, Germany
    J Peripher Nerv Syst 16:304-14. 2011
    b>Fabry disease (FD) is an X-linked lysosomal storage disorder which may lead to impaired peripheral nerve function, mostly affecting small nerve fibers, and to neuropathic pain...
  24. ncbi Structural characterization of mutant alpha-galactosidases causing Fabry disease
    Kanako Sugawara
    Department of Analytical Biochemistry, Meiji Pharmaceutical University, 2 522 1 Noshio, Kiyose, Tokyo, 204 8588, Japan
    J Hum Genet 53:812-24. 2008
    b>Fabry disease is an inborn error of glycolipid catabolism resulting from lesions in the gene encoding alpha-galactosidase (GLA)...
  25. ncbi Later-onset Fabry disease: an adult variant presenting with the cramp-fasciculation syndrome
    Christopher S Nance
    Peripheral Neuropathy Research Center and Multiple Sclerosis Research Center, Mayo Clinic, Rochester, Minn, USA
    Arch Neurol 63:453-7. 2006
    Classic Fabry disease, an X-linked recessive lysosomal storage disease due to the deficient activity of alpha-galactosidase A, typically presents in early childhood with acroparesthesias, angiokeratomas, hypohidrosis, and corneal ..
  26. ncbi Kidney biopsy findings in heterozygous Fabry disease females with early nephropathy
    Carmen Valbuena
    Department of Pathology, Hospital Sao Joao, Porto, Portugal
    Virchows Arch 453:329-38. 2008
    b>Fabry disease is an X-linked glycosphingolipidosis caused by deficiency of alpha-galactosidase. Progressive chronic kidney disease (CKD) is a major cause of morbidity and mortality in males...
  27. ncbi Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease
    S M Rombach
    Department of Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Biochim Biophys Acta 1802:741-8. 2010
    b>Fabry disease is an X-linked lysosomal storage disorder due to deficiency of alpha-Galactosidase A, causing accumulation of globotriaosylceramide and elevated plasma globotriaosylsphingosine (lysoGb3)...
  28. ncbi Fabry's disease
    Yuri A Zarate
    Cincinnati Children s Hospital Medical Center, Division of Human Genetics, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA
    Lancet 372:1427-35. 2008
    ..Additional data are needed to document long-term treatment outcomes...
  29. pmc High incidence of later-onset fabry disease revealed by newborn screening
    Marco Spada
    Department of Pediatrics, University of Torino, Italy
    Am J Hum Genet 79:31-40. 2006
    The classic phenotype of Fabry disease, X-linked alpha -galactosidase A (alpha -Gal A) deficiency, has an estimated incidence of approximately 1 in 50,000 males...
  30. ncbi Fabry disease: biochemical, pathological and structural studies of the α-galactosidase A with E66Q amino acid substitution
    Tadayasu Togawa
    Department of Analytical Biochemistry, Meiji Pharmaceutical University, 2 522 1 Noshio, Kiyose, Tokyo 204 8588, Japan
    Mol Genet Metab 105:615-20. 2012
    ..A (GLA) activity have been identified at an unexpectedly high frequency on Japanese and Korean screening for Fabry disease involving dry blood spots and plasma/serum samples...
  31. ncbi Fabry disease: a morphologic study of 11 cases
    Edgar G Fischer
    Department of Laboratory Medicine and Pathology, Mayo Foundation, Rochester, MN, USA
    Mod Pathol 19:1295-301. 2006
    b>Fabry disease is a metabolic disorder caused by the genetic deficiency of alpha-galactosidase A...
  32. pmc Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain
    Saskia M Rombach
    Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Center, PO Box 22660, Amsterdam, DD, 1100, The Netherlands
    Orphanet J Rare Dis 8:47. 2013
    b>Fabry disease is an X-linked lysosomal storage disorder caused by α-galactosidase A deficiency leading to renal, cardiac, cerebrovascular disease and premature death...
  33. ncbi A Phase 2 study of migalastat hydrochloride in females with Fabry disease: selection of population, safety and pharmacodynamic effects
    R Giugliani
    Medical Genetics Service, HCPA and Department of Genetics, UFRGS, Rua Ramiro Barcelos 2350, Porto Alegre 90035 903, RS, Brazil
    Mol Genet Metab 109:86-92. 2013
    b>Fabry disease (FD) is a genetic disorder resulting from deficiency of the lysosomal enzyme α-galactosidase A (α-Gal A) which leads to globotriaosylceramide (GL-3) accumulation in multiple tissues...
  34. pmc The effectiveness of long-term agalsidase alfa therapy in the treatment of Fabry nephropathy
    Sandro Feriozzi
    Belcolle Hospital, Nephrology and Dialysis, Strada Sammartinese snc, IT 01100 Viterbo, Italy
    Clin J Am Soc Nephrol 7:60-9. 2012
    b>Fabry disease is a rare X-linked disease with multisystemic manifestations. This study investigated the effectiveness of long-term enzyme replacement therapy with agalsidase alfa in Fabry nephropathy treatment.
  35. ncbi Tuning glycosidase inhibition through aglycone interactions: pharmacological chaperones for Fabry disease and GM1 gangliosidosis
    M Aguilar-Moncayo
    Dpto Quimica Organica, Fac de Química, Universidad de Sevilla, C Professor García Gonzalez 1, E 41012 Sevilla, Spain
    Chem Commun (Camb) 48:6514-6. 2012
    ..Selected compounds were profiled as potent pharmacological chaperones for mutant lysosomal α- and β-Gal associated with Fabry disease and GM(1) gangliosidosis.
  36. pmc Cost-effectiveness of enzyme replacement therapy for Fabry disease
    Saskia M Rombach
    Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Centre, PO Box 22660, Amsterdam, DD 1100, The Netherlands
    Orphanet J Rare Dis 8:29. 2013
    The cost-effectiveness of enzyme replacement therapy (ERT) compared to standard medical care was evaluated in the Dutch cohort of patients with Fabry disease.
  37. ncbi Urinary globotriaosylsphingosine-related biomarkers for Fabry disease targeted by metabolomics
    Christiane Auray-Blais
    Service of Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Universite de Sherbrooke, Sherbrooke, Quebec, Canada
    Anal Chem 84:2745-53. 2012
    b>Fabry disease is a lysosomal storage disorder caused by deficiency of α-galactosidase A, resulting in glycosphingolipid accumulation in organs and tissues, including plasma and urine...
  38. ncbi Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease
    Caterina Porto
    Department of Pediatrics, Federico II University, Via S Pansini 5, 80131 Naples, Italy
    J Inherit Metab Dis 35:513-20. 2012
    b>Fabry disease (FD) is an X-linked inherited disease due to alpha-galactosidase A (alpha-Gal A) deficiency and characterized by lysosomal storage of globotriaosylceramide (Gb3) and related neutral glycosphingolipids...
  39. pmc Co-administration with the pharmacological chaperone AT1001 increases recombinant human α-galactosidase A tissue uptake and improves substrate reduction in Fabry mice
    Elfrida R Benjamin
    Amicus Therapeutics Inc, Cranbury, New Jersey 08512, USA
    Mol Ther 20:717-26. 2012
    b>Fabry disease is an X-linked lysosomal storage disorder (LSD) caused by mutations in the gene (GLA) that encodes the lysosomal hydrolase α-galactosidase A (α-Gal A), and is characterized by pathological accumulation of the substrate, ..
  40. pmc Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease
    Jung Young Park
    Genome Research Center for Birth Defects and Genetic Disorders, University of Ulsan College of Medicine, Seoul 138 736, Korea
    Exp Mol Med 41:1-7. 2009
    b>Fabry disease is an X-linked inborn error of glycosphingolipid catabolism that results from mutations in the gene encoding the alpha-galactosidase A (GLA) enzyme...
  41. ncbi Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease. Evidence for a disease specific abnormality of the myocardial interstitium
    James C C Moon
    Centre for Advanced Magnetic Resonance in Cardiology CAMRIC, Royal Brompton Hospital, London, UK
    Eur Heart J 24:2151-5. 2003
    Anderson-Fabry Disease (AFD), an X-linked disorder of sphingolipid metabolism, is a cause of idiopathic left ventricular hypertrophy but the mechanism of hypertrophy is poorly understood...
  42. ncbi Alpha-galactosidase A deficiency accelerates atherosclerosis in mice with apolipoprotein E deficiency
    Peter F Bodary
    Department of Internal Medicine, Division of Cardiovascular Medicine, University of Michigan Medical Center, Ann Arbor, Mich, USA
    Circulation 111:629-32. 2005
    ..Glycosphingolipids have been shown to accumulate in human atherosclerotic lesions, although their role in atherogenesis is unclear...
  43. ncbi Intravenous enzyme replacement therapy: better in home or hospital?
    A Milligan
    Lysosomal Storage Disorders Unit, Royal Free Hospital, London, UK
    Br J Nurs 15:330-3. 2006
    ..A questionnaire was developed and sent to 34 patients with Fabry disease who were receiving ERT with agalsidase alfa (Replagal) and to 49 patients with type I Gaucher disease who were ..
  44. ncbi Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study--screening genetic conditions in Portuguese young stroke patients
    Miguel Viana Baptista
    Servico de Neurologia, Hospital Garcia de Orta, 2801 951 Almada, Portugal
    Stroke 41:431-6. 2010
    b>Fabry disease is an X-linked monogenic disorder caused by mutations in the GLA gene. Recent data suggest that stroke in young adults may be associated with Fabry disease...
  45. pmc Receptor-mediated endocytosis of α-galactosidase A in human podocytes in Fabry disease
    Thaneas Prabakaran
    Section of Cell Biology, Department of Anatomy, Aarhus University, Aarhus, Denmark
    PLoS ONE 6:e25065. 2011
    ..In Fabry disease, podocyte injury is caused by the intracellular accumulation of globotriaosylceramide...
  46. pmc The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease
    Richie Khanna
    Department of Pharmacology, Amicus Therapeutics, Cranbury, New Jersey 08512, USA
    Mol Ther 18:23-33. 2010
    b>Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency in alpha-galactosidase A (alpha-Gal A) activity and subsequent accumulation of the substrate globotriaosylceramide (GL-3), which contributes to disease ..
  47. 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
    BACKGROUND: Fabry disease is an X-linked lysosomal deficiency of alpha-galactosidase A that results in cellular accumulation of galacto-conjugates such as globotriosylceramide, particularly in blood vessels...
  48. pmc Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry Registry
    Christoph Wanner
    Department of Medicine, Division of Nephrology, University of Wurzburg, Wurzburg, Germany
    Clin J Am Soc Nephrol 5:2220-8. 2010
    These analyses were designed to characterize renal disease progression in untreated adults with Fabry disease.
  49. 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
    ..21 different alpha-galactosidase A gene (GLA) mutations in 22 unrelated Czech and Slovak families with Fabry disease. Eleven of these mutations were novel (point mutations D93N, A135V, D155H, G171R, Q280K, G360S, Q330X, ..
  50. ncbi Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy
    Marielle J van Breemen
    Department of Medical Biochemistry, Academic Medical Center, Amsterdam, The Netherlands
    Biochim Biophys Acta 1812:70-6. 2011
    b>Fabry disease is treated by two-weekly infusions with α-galactosidase A, which is deficient in this X-linked globotriaosylceramide (Gb3) storage disorder...
  51. ncbi Plasma globotriaosylsphingosine as a biomarker of Fabry disease
    Tadayasu Togawa
    Department of Analytical Biochemistry, Meiji Pharmaceutical University, Kiyose, Tokyo 204 8588, Japan
    Mol Genet Metab 100:257-61. 2010
    b>Fabry disease is an X-linked genetic disorder caused by a deficiency of alpha-galactosidase A (GLA) activity...
  52. pmc Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A)
    Wuh Liang Hwu
    Department of Pediatrics, National Taiwan University Hospital and National Taiwan University School of Medicine, Taipei, Taiwan, Republic of China
    Hum Mutat 30:1397-405. 2009
    b>Fabry disease (alpha-galactosidase A (alpha-Gal A, GLA) deficiency) is a panethnic inborn error of glycosphingolipid metabolism...
  53. pmc Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy
    Raphael Schiffmann
    Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke National Institutes of Health, Bethesda, MD, USA
    Nephrol Dial Transplant 24:2102-11. 2009
    In Fabry disease, progressive glycolipid accumulation leads to organ damage and early demise, but the incidence of renal, cardiac and cerebrovascular events has not been well characterized.
  54. pmc Progressive podocyte injury and globotriaosylceramide (GL-3) accumulation in young patients with Fabry disease
    Behzad Najafian
    Department of Pathology, University of Washington, Seattle, Washington, USA
    Kidney Int 79:663-70. 2011
    Progressive renal failure often complicates Fabry disease, the pathogenesis of which is not well understood...
  55. pmc Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study
    Giuseppina Andreotti
    Istituto di Chimica Biomolecolare CNR, Pozzuoli, Italy
    Orphanet J Rare Dis 5:36. 2010
    ..Clinical trials are currently carried out for Fabry disease, a lysosomal storage disorder caused by inherited genetic mutations of alpha-galactosidase...
  56. ncbi Globotriaosylsphingosine actions on human glomerular podocytes: implications for Fabry nephropathy
    Maria D Sanchez-Niño
    Nefrologia, Fundacion Jimenez Diaz, Universidad Autonoma de Madrid and Instituto Reina Sofia de Investigaciones Nefrológicas IRSIN, Madrid, Spain
    Nephrol Dial Transplant 26:1797-802. 2011
    ..b>Fabry disease is an X-linked lysosomal glycosphingolipid storage disorder resulting from a deficient activity of α-..
  57. ncbi The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines
    E R Benjamin
    Amicus Therapeutics, 6 Cedar Brook Drive, Cranbury, NJ 08512, USA
    J Inherit Metab Dis 32:424-40. 2009
    b>Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the gene encoding alpha-galactosidase A (alpha-Gal A), with consequent accumulation of its major glycosphingolipid substrate, globotriaosylceramide (GL-3)...
  58. 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...
  59. 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
    Two different enzyme preparations are used for the treatment of Fabry disease patients, agalsidase alpha (Replagal, Shire) and agalsidase beta (Fabrazyme, Genzyme)...
  60. ncbi Impact of enzyme replacement therapy on cardiac morphology and function and late enhancement in Fabry's cardiomyopathy
    Meinrad Beer
    Institut für Röntgendiagnostik, Wurzburg, Germany
    Am J Cardiol 97:1515-8. 2006
    ..Late enhancement may predict the effect of enzyme replacement therapy on left ventricular mass and cardiac function...
  61. ncbi Basilar artery diameter is a potential screening tool for Fabry disease in young stroke patients
    Andreas Fellgiebel
    Department of Psychiatry, University of Mainz, Untere Zahlbacher Strasse 8, Mainz, Germany
    Cerebrovasc Dis 31:294-9. 2011
    b>Fabry disease (FD) is a rare hereditary lysosomal storage disease that has been highlighted as a possible etiology of stroke at a young age...
  62. ncbi Prediction of the clinical phenotype of Fabry disease based on protein sequential and structural information
    Seiji Saito
    Department of Biotechnology, Graduate School of Agricultural and Life Science, The University of Tokyo, Tokyo, Japan
    J Hum Genet 55:175-8. 2010
    b>Fabry disease is a genetic disorder caused by a deficiency of alpha-galactosidase, exhibiting a wide clinical spectrum, from the early-onset severe 'classic' form to the late-onset mild 'variant' one...
  63. pmc Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients
    Bouwien E Smid
    Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Centre, PO Box 22660, 1100 DD, Amsterdam, The Netherlands
    Orphanet J Rare Dis 6:69. 2011
    Enzyme replacement therapy is currently the only approved therapy for Fabry disease. From June 2009 on, viral contamination of Genzyme's production facility resulted in a worldwide shortage of agalsidase beta leading to involuntary dose ..
  64. pmc Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies
    Dominique P Germain
    Division of Medical Genetics, hôpital Raymond Poincaré AP HP, University of Versailles St Quentin en Yvelines UVSQ, Garches, 92380, France
    Orphanet J Rare Dis 7:91. 2012
    b>Fabry disease (FD) is a genetic disorder resulting from deficiency of the lysosomal enzyme α-galactosidase A (α-Gal A), which leads to globotriaosylceramide (GL-3) accumulation in multiple tissues...
  65. ncbi The relation between small nerve fibre function, age, disease severity and pain in Fabry disease
    Marieke Biegstraaten
    Department of Neurology, Academic Medical Centre, Amsterdam, The Netherlands
    Eur J Pain 15:822-9. 2011
    ..Small fibre neuropathy supposedly causes pain in Fabry patients, but the relationship between small nerve fibre function and pain severity is unclear...
  66. pmc α-Galactosidase aggregation is a determinant of pharmacological chaperone efficacy on Fabry disease mutants
    Aleksandra Siekierska
    Vrije Universiteit Brussel VUB, Pleinlaan 2, 1050 Brussels, Belgium
    J Biol Chem 287:28386-97. 2012
    b>Fabry disease is a lysosomal storage disorder caused by loss of α-galactosidase function. More than 500 Fabry disease mutants have been identified, the majority of which are structurally destabilized...
  67. ncbi The variation of morphological and functional cardiac manifestation in Fabry disease: potential implications for the time course of the disease
    Frank Weidemann
    Department of Internal Medicine I, Divisions of Cardiology and Nephrology, Medical University Clinic, University of Wurzburg, 97080 Wuerzburg, Germany
    Eur Heart J 26:1221-7. 2005
    The aim of this clinical cross-sectional study was to investigate the cardiac interrelation of morphological and functional abnormalities in patients with Fabry disease.
  68. ncbi Cystatin C and NT-proBNP as prognostic biomarkers in Fabry disease
    Miguel Ángel Torralba-Cabeza
    Department of Internal Medicine, Lozano Blesa Universitary Hospital, Zaragoza, Spain
    Mol Genet Metab 104:301-7. 2011
    b>Fabry disease (FD) is a lysosomal storage disorder caused by mutations in the α-galactosidase A gene...
  69. ncbi Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry
    Angéla Dajnoki
    Department of General Paediatrics and Neonatology, University Children s Hospital, Vienna, Austria
    Clin Chim Acta 411:1428-31. 2010
    b>Fabry disease (FD) is an X-linked lysosomal storage disorder caused by the deficiency of alpha-galactosidase A (GLA). We evaluated a tandem mass spectrometry method to measure GLA activity.
  70. ncbi High incidence of autoantibodies in Fabry disease patients
    P Martinez
    Servicio de Hematologia, Hospital Penna, Bahia Blanca, Argentina
    J Inherit Metab Dis 30:365-9. 2007
    b>Fabry disease (FD) is an X-linked disorder of glycosphingolipid catabolism that results from a deficiency of the lysosomal enzyme alpha-galactosidase A...
  71. ncbi Enzyme replacement therapy in patients with Fabry disease: state of the art and review of the literature
    Antonio Pisani
    Department of Nephrology, University Federico II, Napoli, Italy
    Mol Genet Metab 107:267-75. 2012
    Anderson-Fabry disease is an X-linked lysosomal storage disorder resulting from the deficiency of the hydrolytic enzyme alpha galactosidase A, with consequent accumulation of globotrioasoyl ceramide in cells and tissues of the body, ..
  72. ncbi [Fabry's disease associated with rheumatoid arthritis. Multisystemic crossroads]
    N Arias Martínez
    Servicios de Medicina Interna y Reumatología, Hospital Universitario La Paz, Universidad Autonoma, Madrid
    An Med Interna 20:28-30. 2003
    ..b>Fabry disease is confirmed by the lack alfa-galactosidase in serum...
  73. ncbi Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns
    Beom Hee Lee
    Department of Pediatrics, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea
    J Hum Genet 55:512-7. 2010
    b>Fabry disease is caused by an alpha-galactosidase A (GLA) deficiency. In this study, we identified 28 unrelated Korean families with Fabry disease with 25 distinct mutations in the GLA gene including six novel mutations (p.W47X, p...
  74. ncbi Response of women with Fabry disease to enzyme replacement therapy: comparison with men, using data from FOS--the Fabry Outcome Survey
    Derralynn A Hughes
    Department of Haematology, Royal Free Campus, University College London, London, UK
    Mol Genet Metab 103:207-14. 2011
    b>Fabry disease (α-galactosidase A deficiency) is an X-linked disorder...
  75. pmc Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers
    A Morrone
    Department of Paediatrics, Florence, Italy
    J Med Genet 40:e103. 2003
  76. ncbi Availability of and access to orphan drugs: an international comparison of pharmaceutical treatments for pulmonary arterial hypertension, Fabry disease, hereditary angioedema and chronic myeloid leukaemia
    Carl Rudolf Blankart
    German Research Center for Environmental Health, Munich, Germany
    Pharmacoeconomics 29:63-82. 2011
    ....
  77. ncbi Two-dimensional speckle tracking as a non-invasive tool for identification of myocardial fibrosis in Fabry disease
    Johannes Krämer
    Department of Medicine, Department of Cardiology, University of Wurzburg, Oberdürrbacherstrasse 6, Wurzburg, Germany
    Eur Heart J 34:1587-96. 2013
    This cross-sectional study aimed to analyse myocardial deformation in patients with Fabry disease (FD) in order to evaluate speckle tracking as a method for non-invasive determination of myocardial fibrosis...
  78. 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
    ..of angiotensin-converting enzyme inhibitor and angiotensin receptor blocker therapy on patients who have Fabry disease and also received enzyme replacement therapy with agalsidase-beta, given at 1 mg/kg body wt every 2 wk...
  79. ncbi Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease
    S Ishii
    Department of Clinical Genetics, Tokyo Metropolitan Institute of Medical Sciences, Japan
    Hum Genet 89:29-32. 1992
    ..region of exon 6 of the alpha-galactosidase A gene were found in two Japanese cases of the cardiac form of Fabry disease; 301Arg----Gln (902G----A) in a case that has already been published and 279Gln----Glu (835C----G) in a new ..
  80. ncbi The histological basis of late gadolinium enhancement cardiovascular magnetic resonance in a patient with Anderson-Fabry disease
    James C Moon
    CMR Unit, Royal Brompton Hospital, London, United Kingdom
    J Cardiovasc Magn Reson 8:479-82. 2006
    Anderson-Fabry Disease (AFD) is a storage disease that mimics hypertrophic cardiomyopathy...
  81. ncbi Enzyme replacement therapy in orphan and ultra-orphan diseases: the limitations of standard economic metrics as exemplified by Fabry-Anderson disease
    David F Moore
    Section of Neurology and Section of Proteomics and System Biology, University of Manitoba, Winnipeg, Manitoba, Canada
    Pharmacoeconomics 25:201-8. 2007
    ..The variable clinical efficacy and cost of ERT has resulted in reluctance by some health providers to approve it...
  82. ncbi Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry
    William R Wilcox
    Medical Genetics Institute, Cedars Sinai Medical Center, 8700 Beverly Blvd SSB, Los Angeles, CA 90048, USA
    Mol Genet Metab 93:112-28. 2008
    b>Fabry disease (FD) is an X-linked lysosomal storage disease caused by alpha-galactosidase A deficiency. The Fabry Registry is a global clinical effort to collect longitudinal data on FD...
  83. ncbi Anti-α-galactosidase A antibody response to agalsidase beta treatment: data from the Fabry Registry
    William R Wilcox
    Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA
    Mol Genet Metab 105:443-9. 2012
    ..of recombinant human α-galactosidase A (αGAL), is approved for use as enzyme replacement therapy (ERT) for Fabry disease. An immunogenic response against a therapeutic protein could potentially impact its efficacy or safety...
  84. ncbi The Fabry cardiomyopathy: models for the cardiologist
    Frank Weidemann
    Department of Medicine, Division of Cardiology, University Hospital, Wuerzburg, Germany
    Annu Rev Med 62:59-67. 2011
    b>Fabry disease is an X-linked lysosomal storage disorder caused by α-galactosidase A deficiency. Intracellular accumulation of globotriaosylceramide starts in utero and progressively develops in various tissues and organs...
  85. ncbi A modified lipid composition in Fabry disease leads to an intracellular block of the detergent-resistant membrane-associated dipeptidyl peptidase IV
    Katia Maalouf
    Department of Physiological Chemistry, University of Veterinary Medicine, Buenteweg 17, 30559, Hannover, Germany
    J Inherit Metab Dis 33:445-9. 2010
    b>Fabry disease is an X-linked lysosomal storage disorder that leads to abnormal accumulation of glycosphingolipids due to a deficiency of alpha-galactosidase A (AGAL)...
  86. ncbi Biomarkers of Fabry disease nephropathy
    Raphael Schiffmann
    Institute of Metabolic Disease, Baylor Research Institute, Dallas, Texas 75226, USA
    Clin J Am Soc Nephrol 5:360-4. 2010
    It is suggested that biomarkers of renal complications of Fabry disease are likely to be useful for diagnosis and to follow the natural disease progression or the effect of specific therapeutic interventions...
  87. ncbi Anderson-Fabry disease in kidneys from deceased donor
    N Basic-Jukic
    Department of Dialysis, University Hospital Centre Zagreb, Zagreb, Croatia
    Am J Transplant 7:2829-33. 2007
    Anderson-Fabry disease (AFD) is a rare, X-linked lysosomal storage disease that leads to progressive intracellular accumulation of globotriaosylceramide in visceral organs and the vascular endothelium...
  88. pmc Scoring system for renal pathology in Fabry disease: report of the International Study Group of Fabry Nephropathy (ISGFN)
    Agnes B Fogo
    Department of Pathology, Vanderbilt University Medical Center, Nashville, TN, USA
    Nephrol Dial Transplant 25:2168-77. 2010
    ..In Fabry nephropathy, alpha-galactosidase deficiency leads to accumulation of glycosphingolipids in all kidney cell types, proteinuria and progressive loss of kidney function...
  89. 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
    b>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.
  90. 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
    b>Fabry disease is a disorder of glycosphingolipid metabolism caused by deficiency of lysosomal alpha-galactosidase A (alpha-Gal A), resulting in renal failure along with premature myocardial infarction and strokes...
  91. ncbi Promoter-specific lentivectors for long-term, cardiac-directed therapy of Fabry disease
    Chyan Jang Lee
    University Health Network, Toronto, ON, Canada
    J Cardiol 57:115-22. 2011
    In Fabry disease a deficiency of α-galactosidase A (α-gal A) activity leads to accumulation of globotriaosylceramide (Gb3) in various tissues including the heart. A specific cardiac variant of Fabry disease has also been described...
  92. 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
  93. pmc Establishment and characterization of Fabry disease endothelial cells with an extended lifespan
    Jin Song Shen
    Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 10, Room 3D04, 9000 Rockville Pike, Bethesda, MD 20892 1260, USA
    Mol Genet Metab 92:137-44. 2007
    b>Fabry disease is an inborn error of glycosphingolipid catabolism resulting from a deficiency of lysosomal enzyme alpha-galactosidase A...
  94. pmc Differential involvement of COX1 and COX2 in the vasculopathy associated with the alpha-galactosidase A-knockout mouse
    James L Park
    Univ of Michigan, 1560 MSRB2, 1150 W Medical Center Dr, Ann Arbor, MI 48109 5676, USA
    Am J Physiol Heart Circ Physiol 296:H1133-40. 2009
    The lysosomal storage disorder Fabry disease is characterized by excessive globotriaosylceramide (Gb3) accumulation in major organs such as the heart and kidney...
  95. pmc Persistent increase in cardiac troponin I in Fabry disease: a case report
    Christian Tanislav
    Department of Neurology, Justus Liebig University, Giessen, Germany
    BMC Cardiovasc Disord 11:6. 2011
    Hypertrophic cardiomyopathy is a frequent manifestation in Fabry disease (FD) - an X-linked lysosomal storage disorder caused by reduced activity of the enzyme α-galactosidase A...
  96. ncbi Magnetic resonance image findings in 5 young patients with Fabry disease
    Juan M Politei
    Neurology Service, Juan A Fernandez Hospital, Buenos Aires, Argentina
    Neurologist 12:103-5. 2006
    b>Fabry disease is an X-linked recessive lysosomal storage disease; it is due to alpha-galactosidase A deficiency, and its clinical course shows repeated small artery strokes.
  97. pmc Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies
    Johannes M F G Aerts
    Sphinx Amsterdam Lysosome Center, Departments of Medical Biochemistry and Internal Medicine, Academic Medical Centre, University of Amsterdam, Meibergdreef 15, 1105 AZ Amsterdam, The Netherlands
    J Inherit Metab Dis 34:605-19. 2011
    ..These are illustrated by reviewing the discovery and use of biomarkers for Gaucher disease and Fabry disease. In addition, recently developed chemical tools allowing specific visualization of enzymatically active ..
  98. pmc Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests
    Giuseppina Andreotti
    Istituto di Chimica Biomolecolare CNR, Pozzuoli, Italy
    Orphanet J Rare Dis 6:66. 2011
    b>Fabry disease is a rare disorder caused by a large variety of mutations in the gene encoding lysosomal alpha-galactosidase. Many of these mutations are unique to individual families...
  99. pmc Screening for pharmacological chaperones in Fabry disease
    Sang Hoon Shin
    Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, 10 Center Drive, Building 10, Room 3D04, MSC 1260, Bethesda, MD 20892 1260, USA
    Biochem Biophys Res Commun 359:168-73. 2007
    As a prerequisite for clinical trials of pharmacological chaperone therapy (PCT) for Fabry disease, we developed a rapid screening assay for enhancement of endogenous alpha-galactosidase A (alpha-Gal A) in patient-derived cells...
  100. ncbi Fabry disease in mice is associated with age-dependent susceptibility to vascular thrombosis
    Daniel T Eitzman
    Division of Cardiology, Department of Internal Medicine, University of Michigan Medical Center, Ann Arbor, Michigan, USA
    J Am Soc Nephrol 14:298-302. 2003
    b>Fabry disease is an X-linked lysosomal storage disorder due to deficiency of alpha-galactosidase A (GLA) activity that results in the widespread accumulation of neutral glycosphingolipids...
  101. ncbi Enhanced endothelium-dependent vasodilation in Fabry disease
    G Altarescu
    Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892-1260, USA
    Stroke 32:1559-62. 2001
    BACKGROUND AND PURPOSE: Fabry disease is an X-linked lysosomal storage disease secondary to deficiency of alpha-galactosidase A with resulting glycolipid accumulation, particularly globotriaosylceramide in arterial smooth muscle and ..

Research Grants40

  1. Design of CNS-Permeable Agents for the Treatment of Lipid Storage Diseases
    Scott D Larsen; Fiscal Year: 2010
    ..These disorders include type I Gaucher disease, Fabry disease, and various central nervous system based diseases...
  2. Lysosomal Disease Network
    Chester B Whitley; Fiscal Year: 2013
    ..Additionally, we include a study on bone disease in the MPS and a set of innovative studies on Fabry disease in which collaborators will carry out the natural history of kidney structure and function, pulmonary function ..
  3. In vivo proof of efficacy studies for a novel glucosylceramide synthase inhibitor
    JAMES ALAN SHAYMAN; Fiscal Year: 2013
    ..molecule inhibitors were designed as highly active lead compounds for the treatment of Gaucher type 1 and Fabry disease. One compound in this series, eliglustat tartrate, has been demonstrated to be as efficacious as imiglucerase ..
  4. The Pharmacological Treatment of Fabry Disease
    JAMES ALAN SHAYMAN; Fiscal Year: 2013
    Abstract Fabry disease is an X-linked lysosomal storage disorder resulting from the inherited deficiency in [unreadable]-galactosidase A (GLA)...
  5. Salivary gland-based gene therapy for lysosomal storage diseases
    Michael J Passineau; Fiscal Year: 2010
    ..b>Fabry disease is a member of the family of lysosomal storage diseases, a group of monogenic disorders characterized by ..
  6. Lab-on-a-chip for multiplexed newborn screening of lysosomal storage disorders
    Vamsee K Pamula; Fiscal Year: 2013
    ..Following a positive results on this platform, 4 infants were further confirmed with Fabry disease and 1 infant with Gaucher disease...
  7. Protein Misprocessing in Krabbe Disease
    Christopher Eckman; Fiscal Year: 2007
    ..type 1, congenital nephrotic syndrome, and other lysosomal storage diseases such as Gaucher disease and Fabry disease. In many of these instances small molecular weight inhibitors of the affected proteins themselves can "trick" ..
  8. FABRY DISEASE: MOLECULAR AND MODEL THERAPEUTIC STUDIES
    ROBERT DESNICK; Fiscal Year: 1991
    ..DNA strategies to produce human Alpha-galactosidase A (Alpha-Gal A) to evaluate its use for the treatment of Fabry disease, a prototype inherited metabolic disorder...
  9. Salivary gland-based gene therapy for lysosomal storage diseases
    MICHAEL PASSINEAU; Fiscal Year: 2007
    ..b>Fabry disease is a member of the family of lysosomal storage diseases, a group of monogenic disorders characterized by ..
  10. Enhancement of Gene Therapy Outcomes for Fabry Disease
    Jeffrey Medin; Fiscal Year: 2004
    b>Fabry disease is the 2nd-most prevalent lysosomal storage disorder (LSD) in humans. It is X-linked and pan-ethnic with a frequency of about1:40,000 males...
  11. Hearing and Balance in Lysosomal Storage Diseases
    Anne Hennig; Fiscal Year: 2003
    ..Furthermore, vestibular function has been examined only in patients with Fabry disease. Since effective therapies are now being developed for many of the LSDs, it is crucial to understand the ..
  12. Lentivirus Gene Therapy for Farber Disease in NHPs
    Jeffrey Medin; Fiscal Year: 2007
    ..We have tested successful outcomes using LVs in cell culture and in small animal models for Fabry disease; another LSD...
  13. Identifying and Characterizing a Gene for a Periodic Pain Syndrome
    JESSE HATFIELD; Fiscal Year: 2009
    ..31-year-old proband is known NOT to have a porphyria, familial Mediterrean fever, periodic Hiberian fever, or Fabry disease. 20 other blood relatives in 4 generations are reported to be affected by several family members...
  14. ISGS: The Ischemic Stroke Genetics Study
    JAMES MESCHIA; Fiscal Year: 2006
    ..The application and SWISS share the same definitions for the present and absence of phenotype and key enrollment criteria. ..
  15. Siblings With Ischemic Stroke Study (SWISS)
    JAMES MESCHIA; Fiscal Year: 2009
    ..DNA banking and the creation of permanent lymphoblastoid cell lines will be done to permit future collaborative efforts to study the genetic basis for stroke risk. ..
  16. 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. ..
  17. 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]..
  18. INBORN ERRORS OF SPHINGOLIPID CATABOLISM
    Gregory Grabowski; Fiscal Year: 2004
    ..abstract_text> ..
  19. MECHANISM OF HARD TISSUE MINERALIZATION
    Adele L Boskey; Fiscal Year: 2010
    ..Aim 3: To determine whether DSPP and BGN interact synergistically during the collagen-based in vitro mineralization process using in vitro and in situ analyses. ..
  20. OSTEOPOROSIS, COLLAGEN CROSS-LINKS & BIOMECHANICS
    Adele Boskey; Fiscal Year: 2003
    ..The proposed studies will be based on histology, FTIR Imaging (FTIRI), biomechanical, and biochemical techniques and represent a novel approach to evaluating the organic matrix inosteoporosis. ..
  21. Pathology of the FSGS Kidney
    Agnes B Fogo; Fiscal Year: 2010
    ..These approaches could ultimately identify novel therapeutic targets in FSGS. ..
  22. 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. ..
  23. GENETIC STUDIES OF HUMAN CELLS
    BARBARA MIGEON; Fiscal Year: 2001
    ....
  24. IN VITRO INITIATION OF BIOLOGICAL CALCIFICATION
    Adele Boskey; Fiscal Year: 2009
    ....
  25. Micro-computed tomography system (Micro-CT)
    Adele Boskey; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable] [unreadable]..
  26. Understanding the Impact of Multiple Symptoms: A Symptom Burden Consortium
    Charles Cleeland; Fiscal Year: 2006
    ..The document will be a collaborative effort among consortium participants, and will be submitted to a leading scientific peer-reviewed journal. [unreadable] [unreadable] [unreadable] [unreadable]..
  27. Renal & Cellular Studies in Type 1 Diabetic Patients
    S Mauer; Fiscal Year: 2007
    ..These studies will provide markers and predictors of DN risk, determine if these are genetically regulated or dependent on prior exposure to D, and identify DN pathogenetic pathways. ..
  28. Use of Hammerhead Ribozymes in Murine Models of Ol
    Gregory Grabowski; Fiscal Year: 2007
    ....
  29. 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. ..
  30. Proteomics in Type 1 Diabetes and its Complications
    S Mauer; Fiscal Year: 2005
    ..These studies could provide surrogate markers of DN and TIDM risk and provide insights into the pathogenesis of TIDM and its renal complications. ..
  31. Renin Angiotensin System Blockage-DN (RASS)
    S Mauer; Fiscal Year: 2007
    ..Ancillary studies will evaluate the effects of treatment group on the development and progression of diabetic retinopathy and will develop predictors of study participants' compliance. ..
  32. Mechanisms and Treatment of Cancer-Related Symptoms Conf
    Charles Cleeland; Fiscal Year: 2005
    ..The conference should also be of interest to pharmaceutical companies that are developing "pipeline" drugs for symptom control and supportive care. ..
  33. NEWBORN GENETIC SCREENING:FOR WHOSE BENEFIT?
    Lainie Ross; Fiscal Year: 2005
    ..OUTCOMES: The major outcomes will be a series of peer-reviewed articles and a full-length book entitled Newborn Genetic Screening: In whose Interest? For whose Benefit? ..
  34. 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. ..
  35. EXPERIMENTAL PATHOLOGY OF DEVELOPING NERVOUS SYSTEM
    Kinuko Suzuki; Fiscal Year: 2004
    ..Therefore, in Aim 5 possible protective role of insulin-like growth factor for neuronal degeneration will be tested by interbreeding NPC mouse with IGF-I transgenic mouse. ..
  36. Mitochondrial and Oxidative Stress in Type 1 Diabetes
    S Mauer; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable] [unreadable]..