Genomes and Genes
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.
Publications320 found, 100 shown here
- Elevated globotriaosylsphingosine is a hallmark of Fabry diseaseJohannes 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. 2008b>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...
- Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiationDavid G Warnock
University of Alabama at Birmingham, Birmingham, AL, USA
Nephrol Dial Transplant 27:1042-9. 2012The purpose of this study was to identify determinants of renal disease progression in adults with Fabry disease during treatment with agalsidase beta.
- Fabry diseaseRaphael Schiffmann
Institute of Metabolic Disease, Baylor Research Institute, 3812 Elm Street, Dallas, TX 75226, USA
Pharmacol Ther 122:65-77. 2009b>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...
- Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment outcomeSaskia 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...
- Agalsidase benefits renal histology in young patients with Fabry diseaseCamilla Tøndel
Renal Research Group, Institute of Medicine, University of Bergen, Haukeland University Hospital, N 5021 Bergen, Norway
J Am Soc Nephrol 24:137-48. 2013The effect of early-onset enzyme replacement therapy on renal morphologic features in Fabry disease is largely unknown...
- Identification and assessment of Anderson-Fabry disease by cardiovascular magnetic resonance noncontrast myocardial T1 mappingDaniel M Sado
The Heart Hospital, London, UK
Circ Cardiovasc Imaging 6:392-8. 2013Anderson-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...
- Cellular and tissue localization of globotriaosylceramide in Fabry diseaseHasan 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. 2007The 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...
- Vasculopathy in patients with Fabry disease: current controversies and research directionsS M Rombach
Department of Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands
Mol Genet Metab 99:99-108. 2010b>Fabry disease is an X-linked lysosomal storage disorder due to deficiency of the enzyme alpha-galactosidase A...
- Long-term effects of enzyme replacement therapy on fabry cardiomyopathy: evidence for a better outcome with early treatmentFrank 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...
- Fabry disease, enzyme replacement therapy and the significance of antibody responsesPatrick B Deegan
Department of Medicine, Addenbrooke s Hospital, Cambridge, CB2 2QQ, UK
J Inherit Metab Dis 35:227-43. 2012b>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...
- Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kgAnouk 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 ..
- Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry RegistryKatherine Sims
Center for Human Genetic Research and Neurology Department, Massachusetts General Hospital and Harvard Medical School, Boston, Mass 02114, USA
Stroke 40:788-94. 2009Stroke is a common and serious clinical manifestation of Fabry disease, an X-linked lysosomal storage disorder caused by deficiency of alpha-galactosidase A activity...
- Safety and efficacy of recombinant human alpha-galactosidase A--replacement therapy in Fabry's diseaseC M Eng
Mount Sinai School of Medicine, New York, NY 10029, USA
N Engl J Med 345:9-16. 2001....
- Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapyBeth L Thurberg
Department of Pathology, Genzyme Corporation, Cambridge, Massachusetts, USA
Kidney Int 62:1933-46. 2002b>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 ..
- Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical courseMary 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
- Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome SurveyA Mehta
University College London, London, UK
Eur J Clin Invest 34:236-42. 2004b>Fabry disease is a rare X-linked disorder caused by deficient activity of the lysosomal enzyme alpha-galactosidase A...
- Fabry diseaseDominique 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. 2010b>Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal α-galactosidase A activity...
- Agalsidase alfa and kidney dysfunction in Fabry diseaseMichael 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. 2009In 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 ..
- Differences in Fabry cardiomyopathy between female and male patients: consequences for diagnostic assessmentMarkus Niemann
Department of Internal Medicine I, University of Wurzburg, Wurzburg, Germany
JACC Cardiovasc Imaging 4:592-601. 2011We 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.
- Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panelAlessandro P Burlina
Neurological Unit, St Bassiano Hospital, Bassano del Grappa, Italy
BMC Neurol 11:61. 2011b>Fabry disease is an inherited metabolic disorder characterized by progressive lysosomal accumulation of lipids in a variety of cell types, including neural cells...
- Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry dataA 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)...
- Brain MRI findings in patients with Fabry diseaseRicardo C Reisin
Neurology Department, Hospital Britanico de Buenos Aires, Argentina
J Neurol Sci 305:41-4. 2011To evaluate the presence of ischemic and hemorrhagic lesions in brain MRI of patients with Fabry disease (FD).
- Small fibers in Fabry disease: baseline and follow-up data under enzyme replacement therapyNurcan Uceyler
Department of Neurology, University of Wurzburg, Wurzburg, Germany
J Peripher Nerv Syst 16:304-14. 2011b>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...
- Structural characterization of mutant alpha-galactosidases causing Fabry diseaseKanako Sugawara
Department of Analytical Biochemistry, Meiji Pharmaceutical University, 2 522 1 Noshio, Kiyose, Tokyo, 204 8588, Japan
J Hum Genet 53:812-24. 2008b>Fabry disease is an inborn error of glycolipid catabolism resulting from lesions in the gene encoding alpha-galactosidase (GLA)...
- Later-onset Fabry disease: an adult variant presenting with the cramp-fasciculation syndromeChristopher S Nance
Peripheral Neuropathy Research Center and Multiple Sclerosis Research Center, Mayo Clinic, Rochester, Minn, USA
Arch Neurol 63:453-7. 2006Classic 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 ..
- Kidney biopsy findings in heterozygous Fabry disease females with early nephropathyCarmen Valbuena
Department of Pathology, Hospital Sao Joao, Porto, Portugal
Virchows Arch 453:329-38. 2008b>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...
- Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry diseaseS M Rombach
Department of Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
Biochim Biophys Acta 1802:741-8. 2010b>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)...
- Fabry's diseaseYuri 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...
- High incidence of later-onset fabry disease revealed by newborn screeningMarco Spada
Department of Pediatrics, University of Torino, Italy
Am J Hum Genet 79:31-40. 2006The 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...
- Fabry disease: biochemical, pathological and structural studies of the α-galactosidase A with E66Q amino acid substitutionTadayasu 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...
- Fabry disease: a morphologic study of 11 casesEdgar G Fischer
Department of Laboratory Medicine and Pathology, Mayo Foundation, Rochester, MN, USA
Mod Pathol 19:1295-301. 2006b>Fabry disease is a metabolic disorder caused by the genetic deficiency of alpha-galactosidase A...
- Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brainSaskia 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. 2013b>Fabry disease is an X-linked lysosomal storage disorder caused by α-galactosidase A deficiency leading to renal, cardiac, cerebrovascular disease and premature death...
- A Phase 2 study of migalastat hydrochloride in females with Fabry disease: selection of population, safety and pharmacodynamic effectsR 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. 2013b>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...
- The effectiveness of long-term agalsidase alfa therapy in the treatment of Fabry nephropathySandro Feriozzi
Belcolle Hospital, Nephrology and Dialysis, Strada Sammartinese snc, IT 01100 Viterbo, Italy
Clin J Am Soc Nephrol 7:60-9. 2012b>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.
- Tuning glycosidase inhibition through aglycone interactions: pharmacological chaperones for Fabry disease and GM1 gangliosidosisM 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.
- Cost-effectiveness of enzyme replacement therapy for Fabry diseaseSaskia 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. 2013The cost-effectiveness of enzyme replacement therapy (ERT) compared to standard medical care was evaluated in the Dutch cohort of patients with Fabry disease.
- Urinary globotriaosylsphingosine-related biomarkers for Fabry disease targeted by metabolomicsChristiane 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. 2012b>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...
- Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry diseaseCaterina Porto
Department of Pediatrics, Federico II University, Via S Pansini 5, 80131 Naples, Italy
J Inherit Metab Dis 35:513-20. 2012b>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...
- Co-administration with the pharmacological chaperone AT1001 increases recombinant human α-galactosidase A tissue uptake and improves substrate reduction in Fabry miceElfrida R Benjamin
Amicus Therapeutics Inc, Cranbury, New Jersey 08512, USA
Mol Ther 20:717-26. 2012b>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, ..
- Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry diseaseJung 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. 2009b>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...
- Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease. Evidence for a disease specific abnormality of the myocardial interstitiumJames C C Moon
Centre for Advanced Magnetic Resonance in Cardiology CAMRIC, Royal Brompton Hospital, London, UK
Eur Heart J 24:2151-5. 2003Anderson-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...
- Alpha-galactosidase A deficiency accelerates atherosclerosis in mice with apolipoprotein E deficiencyPeter 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...
- 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 ..
- Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study--screening genetic conditions in Portuguese young stroke patientsMiguel Viana Baptista
Servico de Neurologia, Hospital Garcia de Orta, 2801 951 Almada, Portugal
Stroke 41:431-6. 2010b>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...
- Receptor-mediated endocytosis of α-galactosidase A in human podocytes in Fabry diseaseThaneas 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...
- The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry diseaseRichie Khanna
Department of Pharmacology, Amicus Therapeutics, Cranbury, New Jersey 08512, USA
Mol Ther 18:23-33. 2010b>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 ..
- Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapyD 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. 2001BACKGROUND: 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...
- Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry RegistryChristoph Wanner
Department of Medicine, Division of Nephrology, University of Wurzburg, Wurzburg, Germany
Clin J Am Soc Nephrol 5:2220-8. 2010These analyses were designed to characterize renal disease progression in untreated adults with Fabry disease.
- Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak populationRobert 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, ..
- Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapyMarielle J van Breemen
Department of Medical Biochemistry, Academic Medical Center, Amsterdam, The Netherlands
Biochim Biophys Acta 1812:70-6. 2011b>Fabry disease is treated by two-weekly infusions with α-galactosidase A, which is deficient in this X-linked globotriaosylceramide (Gb3) storage disorder...
- Plasma globotriaosylsphingosine as a biomarker of Fabry diseaseTadayasu Togawa
Department of Analytical Biochemistry, Meiji Pharmaceutical University, Kiyose, Tokyo 204 8588, Japan
Mol Genet Metab 100:257-61. 2010b>Fabry disease is an X-linked genetic disorder caused by a deficiency of alpha-galactosidase A (GLA) activity...
- 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. 2009b>Fabry disease (alpha-galactosidase A (alpha-Gal A, GLA) deficiency) is a panethnic inborn error of glycosphingolipid metabolism...
- Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapyRaphael 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. 2009In 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.
- Progressive podocyte injury and globotriaosylceramide (GL-3) accumulation in young patients with Fabry diseaseBehzad Najafian
Department of Pathology, University of Washington, Seattle, Washington, USA
Kidney Int 79:663-70. 2011Progressive renal failure often complicates Fabry disease, the pathogenesis of which is not well understood...
- Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of studyGiuseppina 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...
- Globotriaosylsphingosine actions on human glomerular podocytes: implications for Fabry nephropathyMaria 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-..
- The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell linesE R Benjamin
Amicus Therapeutics, 6 Cedar Brook Drive, Cranbury, NJ 08512, USA
J Inherit Metab Dis 32:424-40. 2009b>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)...
- Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of lifeRaymond 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...
- Treatment of Fabry disease with different dosing regimens of agalsidase: effects on antibody formation and GL-3Anouk 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. 2008Two different enzyme preparations are used for the treatment of Fabry disease patients, agalsidase alpha (Replagal, Shire) and agalsidase beta (Fabrazyme, Genzyme)...
- Impact of enzyme replacement therapy on cardiac morphology and function and late enhancement in Fabry's cardiomyopathyMeinrad 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...
- Basilar artery diameter is a potential screening tool for Fabry disease in young stroke patientsAndreas Fellgiebel
Department of Psychiatry, University of Mainz, Untere Zahlbacher Strasse 8, Mainz, Germany
Cerebrovasc Dis 31:294-9. 2011b>Fabry disease (FD) is a rare hereditary lysosomal storage disease that has been highlighted as a possible etiology of stroke at a young age...
- Prediction of the clinical phenotype of Fabry disease based on protein sequential and structural informationSeiji Saito
Department of Biotechnology, Graduate School of Agricultural and Life Science, The University of Tokyo, Tokyo, Japan
J Hum Genet 55:175-8. 2010b>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...
- Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patientsBouwien 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. 2011Enzyme 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 ..
- 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 studiesDominique 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. 2012b>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...
- The relation between small nerve fibre function, age, disease severity and pain in Fabry diseaseMarieke 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...
- α-Galactosidase aggregation is a determinant of pharmacological chaperone efficacy on Fabry disease mutantsAleksandra Siekierska
Vrije Universiteit Brussel VUB, Pleinlaan 2, 1050 Brussels, Belgium
J Biol Chem 287:28386-97. 2012b>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...
- The variation of morphological and functional cardiac manifestation in Fabry disease: potential implications for the time course of the diseaseFrank 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. 2005The aim of this clinical cross-sectional study was to investigate the cardiac interrelation of morphological and functional abnormalities in patients with Fabry disease.
- Cystatin C and NT-proBNP as prognostic biomarkers in Fabry diseaseMiguel Ángel Torralba-Cabeza
Department of Internal Medicine, Lozano Blesa Universitary Hospital, Zaragoza, Spain
Mol Genet Metab 104:301-7. 2011b>Fabry disease (FD) is a lysosomal storage disorder caused by mutations in the α-galactosidase A gene...
- Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometryAngéla Dajnoki
Department of General Paediatrics and Neonatology, University Children s Hospital, Vienna, Austria
Clin Chim Acta 411:1428-31. 2010b>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.
- High incidence of autoantibodies in Fabry disease patientsP Martinez
Servicio de Hematologia, Hospital Penna, Bahia Blanca, Argentina
J Inherit Metab Dis 30:365-9. 2007b>Fabry disease (FD) is an X-linked disorder of glycosphingolipid catabolism that results from a deficiency of the lysosomal enzyme alpha-galactosidase A...
- Enzyme replacement therapy in patients with Fabry disease: state of the art and review of the literatureAntonio Pisani
Department of Nephrology, University Federico II, Napoli, Italy
Mol Genet Metab 107:267-75. 2012Anderson-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, ..
- [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...
- Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newbornsBeom Hee Lee
Department of Pediatrics, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea
J Hum Genet 55:512-7. 2010b>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...
- Response of women with Fabry disease to enzyme replacement therapy: comparison with men, using data from FOS--the Fabry Outcome SurveyDerralynn A Hughes
Department of Haematology, Royal Free Campus, University College London, London, UK
Mol Genet Metab 103:207-14. 2011b>Fabry disease (α-galactosidase A deficiency) is an X-linked disorder...
- Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriersA Morrone
Department of Paediatrics, Florence, Italy
J Med Genet 40:e103. 2003
- Availability of and access to orphan drugs: an international comparison of pharmaceutical treatments for pulmonary arterial hypertension, Fabry disease, hereditary angioedema and chronic myeloid leukaemiaCarl Rudolf Blankart
German Research Center for Environmental Health, Munich, Germany
Pharmacoeconomics 29:63-82. 2011....
- Two-dimensional speckle tracking as a non-invasive tool for identification of myocardial fibrosis in Fabry diseaseJohannes Krämer
Department of Medicine, Department of Cardiology, University of Wurzburg, Oberdürrbacherstrasse 6, Wurzburg, Germany
Eur Heart J 34:1587-96. 2013This 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...
- Antiproteinuric therapy and fabry nephropathy: sustained reduction of proteinuria in patients receiving enzyme replacement therapy with agalsidase-betaHindia 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...
- Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry diseaseS 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 ..
- The histological basis of late gadolinium enhancement cardiovascular magnetic resonance in a patient with Anderson-Fabry diseaseJames C Moon
CMR Unit, Royal Brompton Hospital, London, United Kingdom
J Cardiovasc Magn Reson 8:479-82. 2006Anderson-Fabry Disease (AFD) is a storage disease that mimics hypertrophic cardiomyopathy...
- Enzyme replacement therapy in orphan and ultra-orphan diseases: the limitations of standard economic metrics as exemplified by Fabry-Anderson diseaseDavid 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...
- Females with Fabry disease frequently have major organ involvement: lessons from the Fabry RegistryWilliam R Wilcox
Medical Genetics Institute, Cedars Sinai Medical Center, 8700 Beverly Blvd SSB, Los Angeles, CA 90048, USA
Mol Genet Metab 93:112-28. 2008b>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...
- Anti-α-galactosidase A antibody response to agalsidase beta treatment: data from the Fabry RegistryWilliam 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...
- The Fabry cardiomyopathy: models for the cardiologistFrank Weidemann
Department of Medicine, Division of Cardiology, University Hospital, Wuerzburg, Germany
Annu Rev Med 62:59-67. 2011b>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...
- A modified lipid composition in Fabry disease leads to an intracellular block of the detergent-resistant membrane-associated dipeptidyl peptidase IVKatia Maalouf
Department of Physiological Chemistry, University of Veterinary Medicine, Buenteweg 17, 30559, Hannover, Germany
J Inherit Metab Dis 33:445-9. 2010b>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)...
- Biomarkers of Fabry disease nephropathyRaphael Schiffmann
Institute of Metabolic Disease, Baylor Research Institute, Dallas, Texas 75226, USA
Clin J Am Soc Nephrol 5:360-4. 2010It 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...
- Anderson-Fabry disease in kidneys from deceased donorN Basic-Jukic
Department of Dialysis, University Hospital Centre Zagreb, Zagreb, Croatia
Am J Transplant 7:2829-33. 2007Anderson-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...
- 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...
- Agalsidase-beta therapy for advanced Fabry disease: a randomized trialMaryam Banikazemi
Mount Sinai School of Medicine of New York University, New York, New York, USA
Ann Intern Med 146:77-86. 2007b>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.
- Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitorJ Q Fan
Department of Membrane Biochemistry, Tokyo, Japan
Nat Med 5:112-5. 1999b>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...
- Promoter-specific lentivectors for long-term, cardiac-directed therapy of Fabry diseaseChyan Jang Lee
University Health Network, Toronto, ON, Canada
J Cardiol 57:115-22. 2011In 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...
- An atypical variant of Fabry's disease with manifestations confined to the myocardiumW von Scheidt
Medizinische Klinik, Ludwig Maximilians Universitat Munchen, Klinikum Grosshadern
N Engl J Med 324:395-9. 1991
- Establishment and characterization of Fabry disease endothelial cells with an extended lifespanJin 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. 2007b>Fabry disease is an inborn error of glycosphingolipid catabolism resulting from a deficiency of lysosomal enzyme alpha-galactosidase A...
- Differential involvement of COX1 and COX2 in the vasculopathy associated with the alpha-galactosidase A-knockout mouseJames 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. 2009The lysosomal storage disorder Fabry disease is characterized by excessive globotriaosylceramide (Gb3) accumulation in major organs such as the heart and kidney...
- Persistent increase in cardiac troponin I in Fabry disease: a case reportChristian Tanislav
Department of Neurology, Justus Liebig University, Giessen, Germany
BMC Cardiovasc Disord 11:6. 2011Hypertrophic 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...
- Magnetic resonance image findings in 5 young patients with Fabry diseaseJuan M Politei
Neurology Service, Juan A Fernandez Hospital, Buenos Aires, Argentina
Neurologist 12:103-5. 2006b>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.
- Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodiesJohannes 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 ..
- Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro testsGiuseppina Andreotti
Istituto di Chimica Biomolecolare CNR, Pozzuoli, Italy
Orphanet J Rare Dis 6:66. 2011b>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...
- Screening for pharmacological chaperones in Fabry diseaseSang 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. 2007As 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...
- Fabry disease in mice is associated with age-dependent susceptibility to vascular thrombosisDaniel 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. 2003b>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...
- Enhanced endothelium-dependent vasodilation in Fabry diseaseG 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. 2001BACKGROUND 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 ..
- Design of CNS-Permeable Agents for the Treatment of Lipid Storage DiseasesScott D Larsen; Fiscal Year: 2010..These disorders include type I Gaucher disease, Fabry disease, and various central nervous system based diseases...
- Lysosomal Disease NetworkChester 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 ..
- In vivo proof of efficacy studies for a novel glucosylceramide synthase inhibitorJAMES 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 ..
- The Pharmacological Treatment of Fabry DiseaseJAMES ALAN SHAYMAN; Fiscal Year: 2013Abstract Fabry disease is an X-linked lysosomal storage disorder resulting from the inherited deficiency in [unreadable]-galactosidase A (GLA)...
- Salivary gland-based gene therapy for lysosomal storage diseasesMichael 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 ..
- Lab-on-a-chip for multiplexed newborn screening of lysosomal storage disordersVamsee 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...
- Protein Misprocessing in Krabbe DiseaseChristopher 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" ..
- FABRY DISEASE: MOLECULAR AND MODEL THERAPEUTIC STUDIESROBERT 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...
- Salivary gland-based gene therapy for lysosomal storage diseasesMICHAEL PASSINEAU; Fiscal Year: 2007..b>Fabry disease is a member of the family of lysosomal storage diseases, a group of monogenic disorders characterized by ..
- Enhancement of Gene Therapy Outcomes for Fabry DiseaseJeffrey Medin; Fiscal Year: 2004b>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...
- Hearing and Balance in Lysosomal Storage DiseasesAnne 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 ..
- Lentivirus Gene Therapy for Farber Disease in NHPsJeffrey Medin; Fiscal Year: 2007..We have tested successful outcomes using LVs in cell culture and in small animal models for Fabry disease; another LSD...
- Identifying and Characterizing a Gene for a Periodic Pain SyndromeJESSE 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...
- ISGS: The Ischemic Stroke Genetics StudyJAMES MESCHIA; Fiscal Year: 2006..The application and SWISS share the same definitions for the present and absence of phenotype and key enrollment criteria. ..
- 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. ..
- PORPHYRIA AND HUMAN HEME BIOSYNTHESISRobert J Desnick; Fiscal Year: 2010..Viable CEP mice should permit studies of the disease pathophysiology and future therapeutic endeavors. ..
- MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIESROBERT 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]..
- INBORN ERRORS OF SPHINGOLIPID CATABOLISMGregory Grabowski; Fiscal Year: 2004..abstract_text> ..
- MECHANISM OF HARD TISSUE MINERALIZATIONAdele 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. ..
- OSTEOPOROSIS, COLLAGEN CROSS-LINKS & BIOMECHANICSAdele 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. ..
- Pathology of the FSGS KidneyAgnes B Fogo; Fiscal Year: 2010..These approaches could ultimately identify novel therapeutic targets in FSGS. ..
- CHIMERIC RNA/DNA OLIGONUCLEOTIDE BASED GENE THERAPYYEONG 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. ..
- GENETIC STUDIES OF HUMAN CELLSBARBARA MIGEON; Fiscal Year: 2001....
- IN VITRO INITIATION OF BIOLOGICAL CALCIFICATIONAdele Boskey; Fiscal Year: 2009....
- Micro-computed tomography system (Micro-CT)Adele Boskey; Fiscal Year: 2008..unreadable] [unreadable] [unreadable] [unreadable]..
- Understanding the Impact of Multiple Symptoms: A Symptom Burden ConsortiumCharles 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]..
- Renal & Cellular Studies in Type 1 Diabetic PatientsS 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. ..
- Use of Hammerhead Ribozymes in Murine Models of OlGregory Grabowski; Fiscal Year: 2007....
- Studies of Prosaposin's Physiologic RoleGregory Grabowski; Fiscal Year: 2007..These studies have implications for GSL metabolism, and lysosomal storage disease phenotypic expression and therapy. ..
- Proteomics in Type 1 Diabetes and its ComplicationsS 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. ..
- 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. ..
- Mechanisms and Treatment of Cancer-Related Symptoms ConfCharles 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. ..
- 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? ..
- Structure of signal peptide peptidaseRAQUEL 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. ..
- EXPERIMENTAL PATHOLOGY OF DEVELOPING NERVOUS SYSTEMKinuko 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. ..
- Mitochondrial and Oxidative Stress in Type 1 DiabetesS Mauer; Fiscal Year: 2007..unreadable] [unreadable] [unreadable] [unreadable]..