Published in Mol Genet Metab on May 16, 2007
A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease (ENGAGE) | NCT00891202
A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1. Blood (2010) 2.38
Inhibition of glucosylceramide accumulation results in effective blockade of polycystic kidney disease in mouse models. Nat Med (2010) 1.62
Gaucher disease: clinical profile and therapeutic developments. Biologics (2010) 1.27
Multi-system disorders of glycosphingolipid and ganglioside metabolism. J Lipid Res (2010) 1.22
Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trial. JAMA (2015) 1.16
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A new mixed-backbone oligonucleotide against glucosylceramide synthase sensitizes multidrug-resistant tumors to apoptosis. PLoS One (2009) 1.11
Improved management of lysosomal glucosylceramide levels in a mouse model of type 1 Gaucher disease using enzyme and substrate reduction therapy. J Inherit Metab Dis (2010) 1.10
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Inhibition of glycosphingolipid synthesis ameliorates atherosclerosis and arterial stiffness in apolipoprotein E-/- mice and rabbits fed a high-fat and -cholesterol diet. Circulation (2014) 1.06
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Comparative therapeutic effects of velaglucerase alfa and imiglucerase in a Gaucher disease mouse model. PLoS One (2010) 1.05
Substrate reduction augments the efficacy of enzyme therapy in a mouse model of Fabry disease. PLoS One (2010) 1.04
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Inhibition of ceramide biosynthesis preserves photoreceptor structure and function in a mouse model of retinitis pigmentosa. Proc Natl Acad Sci U S A (2010) 1.02
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Increased hepatic insulin action in diet-induced obese mice following inhibition of glucosylceramide synthase. PLoS One (2010) 0.95
Kidney glycosphingolipids are elevated early in diabetic nephropathy and mediate hypertrophy of mesangial cells. Am J Physiol Renal Physiol (2015) 0.89
Direct quantitative determination of ceramide glycosylation in vivo: a new approach to evaluate cellular enzyme activity of glucosylceramide synthase. J Lipid Res (2009) 0.87
Expanding spectrum of the association between Type 1 Gaucher disease and cancers: a series of patients with up to 3 sequential cancers of multiple types--correlation with genotype and phenotype. Am J Hematol (2010) 0.87
Modelling Gaucher disease progression: long-term enzyme replacement therapy reduces the incidence of splenectomy and bone complications. Orphanet J Rare Dis (2014) 0.83
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Glycosphingolipids are modulators of disease pathogenesis in amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A (2015) 0.81
Efficacy of Enzyme and Substrate Reduction Therapy with a Novel Antagonist of Glucosylceramide Synthase for Fabry Disease. Mol Med (2015) 0.81
Identification of potent and selective glucosylceramide synthase inhibitors from a library of N-alkylated iminosugars. ACS Med Chem Lett (2010) 0.80
Profile of eliglustat tartrate in the management of Gaucher disease. Ther Clin Risk Manag (2016) 0.80
Eliglustat tartrate for the treatment of adults with type 1 Gaucher disease. Drug Des Devel Ther (2015) 0.79
Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients. Orphanet J Rare Dis (2016) 0.79
Gaucher disease: transcriptome analyses using microarray or mRNA sequencing in a Gba1 mutant mouse model treated with velaglucerase alfa or imiglucerase. PLoS One (2013) 0.78
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Clinical manifestations and management of Gaucher disease. Clin Cases Miner Bone Metab (2015) 0.75
Dissociation of ERK signalling inhibition from the anti-amyloidogenic action of synthetic ceramide analogues. Clin Sci (Lond) (2012) 0.75
Ganglioside GM3 Mediates Glucose-Induced Suppression of IGF-1 Receptor-Rac1 Activation to Inhibit Keratinocyte Motility. J Invest Dermatol (2016) 0.75
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A small-cell lung cancer genome with complex signatures of tobacco exposure. Nature (2009) 18.39
Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. Nature (2011) 13.30
Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia. Nature (2011) 13.18
Critically ill patients with 2009 influenza A(H1N1) infection in Canada. JAMA (2009) 13.00
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Mutational processes molding the genomes of 21 breast cancers. Cell (2012) 11.22
The life history of 21 breast cancers. Cell (2012) 10.59
Surviving Sepsis Campaign: international guidelines for management of severe sepsis and septic shock: 2008. Intensive Care Med (2007) 8.33
A new arenavirus in a cluster of fatal transplant-associated diseases. N Engl J Med (2008) 7.73
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Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies. Cell (2011) 6.23
A randomized phase IIIB trial of chemotherapy, bevacizumab, and panitumumab compared with chemotherapy and bevacizumab alone for metastatic colorectal cancer. J Clin Oncol (2008) 5.56
C.A.U.S.E.: Cardiac arrest ultra-sound exam--a better approach to managing patients in primary non-arrhythmogenic cardiac arrest. Resuscitation (2007) 5.04
Outcomes of liver transplant recipients with hepatitis C and human immunodeficiency virus coinfection. Liver Transpl (2012) 4.65
Sustained therapeutic reversal of Huntington's disease by transient repression of huntingtin synthesis. Neuron (2012) 4.48
Perceptions of patients and physicians regarding phase I cancer clinical trials: implications for physician-patient communication. J Clin Oncol (2003) 3.31
Editing of CD1d-bound lipid antigens by endosomal lipid transfer proteins. Science (2003) 3.05
Accelerated corneal crosslinking concurrent with laser in situ keratomileusis. J Cataract Refract Surg (2012) 2.72
Effect of complete epithelial debridement before riboflavin-ultraviolet-A corneal collagen crosslinking therapy. J Cataract Refract Surg (2008) 2.66
Clinician predictions of intensive care unit mortality. Crit Care Med (2004) 2.65
Targeting nuclear RNA for in vivo correction of myotonic dystrophy. Nature (2012) 2.63
CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy. J Clin Invest (2010) 2.62
Treatment of Fabry disease with different dosing regimens of agalsidase: effects on antibody formation and GL-3. Mol Genet Metab (2008) 2.60
Antisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular atrophy. Sci Transl Med (2011) 2.56
Optical coherence tomography may be used to predict visual acuity in patients with macular edema. Invest Ophthalmol Vis Sci (2011) 2.45
Activated protein C and septic shock: a propensity-matched cohort study*. Crit Care Med (2012) 2.39
Genome sequencing and analysis of the Tasmanian devil and its transmissible cancer. Cell (2012) 2.37
Multiplex enzyme assay screening of dried blood spots for lysosomal storage disorders by using tandem mass spectrometry. Clin Chem (2008) 2.34
Therapeutic goals in the treatment of Gaucher disease. Semin Hematol (2004) 2.29
Cdk5-mediated inhibition of the protective effects of transcription factor MEF2 in neurotoxicity-induced apoptosis. Neuron (2003) 2.19
Open letter to Xi Jinping, President of the People's Republic of China: China's fight against corruption in organ transplantation. Transplantation (2014) 2.11
Acid β-glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter α-synuclein processing. Ann Neurol (2011) 2.11
Hypoxia up-regulates expression of peroxisome proliferator-activated receptor gamma angiopoietin-related gene (PGAR) in cardiomyocytes: role of hypoxia inducible factor 1alpha. J Mol Cell Cardiol (2002) 2.02
Randomized, controlled trial of irinotecan plus infusional, bolus, or oral fluoropyrimidines in first-line treatment of metastatic colorectal cancer: updated results from the BICC-C study. J Clin Oncol (2008) 2.02
Hypoxia-inducible factor-1 mediates activation of cultured vascular endothelial cells by inducing multiple angiogenic factors. Circ Res (2003) 2.00
Near-total human face transplantation for a severely disfigured patient in the USA. Lancet (2009) 1.97
The importance of mosquito behavioural adaptations to malaria control in Africa. Evolution (2013) 1.93
Acute kidney injury in septic shock: clinical outcomes and impact of duration of hypotension prior to initiation of antimicrobial therapy. Intensive Care Med (2008) 1.93
A long-term study of photorefractive keratectomy; 12-year follow-up. Ophthalmology (2004) 1.92
CNS expression of glucocerebrosidase corrects alpha-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy. Proc Natl Acad Sci U S A (2011) 1.90
Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta. Kidney Int (2004) 1.89
Development and independent validation of a prognostic assay for stage II colon cancer using formalin-fixed paraffin-embedded tissue. J Clin Oncol (2011) 1.84
Proteinase-activated receptor-1 mediates elastase-induced apoptosis of human lung epithelial cells. Am J Respir Cell Mol Biol (2005) 1.83
Intraventricular enzyme replacement improves disease phenotypes in a mouse model of late infantile neuronal ceroid lipofuscinosis. Mol Ther (2008) 1.82
Inhibiting glycosphingolipid synthesis improves glycemic control and insulin sensitivity in animal models of type 2 diabetes. Diabetes (2007) 1.82
Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease. Am J Pathol (2003) 1.81
Specificity and affinity of natural product cyclopentapeptide inhibitors against A. fumigatus, human, and bacterial chitinases. Chem Biol (2005) 1.80
Single-cell paired-end genome sequencing reveals structural variation per cell cycle. Nucleic Acids Res (2013) 1.77
Characterization of human phagocyte-derived chitotriosidase, a component of innate immunity. Int Immunol (2005) 1.76
Investigation of the mechanism of action of alemtuzumab in a human CD52 transgenic mouse model. Immunology (2009) 1.75
Evolution of mammalian chitinase(-like) members of family 18 glycosyl hydrolases. Genetics (2007) 1.73
CpG-free plasmids confer reduced inflammation and sustained pulmonary gene expression. Nat Biotechnol (2008) 1.73
Interaction between fluids and vasoactive agents on mortality in septic shock: a multicenter, observational study. Crit Care Med (2014) 1.72
Structure of human chitotriosidase. Implications for specific inhibitor design and function of mammalian chitinase-like lectins. J Biol Chem (2002) 1.71
Effects of fluid resuscitation with synthetic colloids or crystalloids alone on shock reversal, fluid balance, and patient outcomes in patients with severe sepsis: a prospective sequential analysis. Crit Care Med (2012) 1.71
First U.S. near-total human face transplantation: a paradigm shift for massive complex injuries. Plast Reconstr Surg (2010) 1.70
Characterization of Gaucher disease bone marrow mesenchymal stromal cells reveals an altered inflammatory secretome. Blood (2009) 1.70
Lysosomal enzymes are released from cultured human macrophages, hydrolyze LDL in vitro, and are present extracellularly in human atherosclerotic lesions. Arterioscler Thromb Vasc Biol (2003) 1.68
5-year follow-up of LASIK for hyperopia. Ophthalmology (2005) 1.66
CaMKII-independent effects of KN93 and its inactive analog KN92: reversible inhibition of L-type calcium channels. Biochem Biophys Res Commun (2006) 1.63
Preexisting immunity and low expression in primates highlight translational challenges for liver-directed AAV8-mediated gene therapy. Mol Ther (2010) 1.63
Inhibition of glucosylceramide accumulation results in effective blockade of polycystic kidney disease in mouse models. Nat Med (2010) 1.62
Discrete mechanisms of mTOR and cell cycle regulation by AMPK agonists independent of AMPK. Proc Natl Acad Sci U S A (2014) 1.62
Ganglioside-linked terminal sialic acid moieties on murine macrophages function as attachment receptors for murine noroviruses. J Virol (2009) 1.61
Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage. Proc Natl Acad Sci U S A (2010) 1.60
Immune cell function testing: an adjunct to therapeutic drug monitoring in transplant patient management. Clin Transplant (2003) 1.58
Delivery of AAV-IGF-1 to the CNS extends survival in ALS mice through modification of aberrant glial cell activity. Mol Ther (2008) 1.57
Tobacco use following liver transplantation for alcoholic liver disease: an underestimated problem. Liver Transpl (2005) 1.55
AAV2 vector harboring a liver-restricted promoter facilitates sustained expression of therapeutic levels of alpha-galactosidase A and the induction of immune tolerance in Fabry mice. Mol Ther (2004) 1.55
The genetic heterogeneity and mutational burden of engineered melanomas in zebrafish models. Genome Biol (2013) 1.54
Force majeure: therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease. Blood Cells Mol Dis (2009) 1.54
Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg. PLoS One (2007) 1.54
Pseudallescheria boydii (Anamorph Scedosporium apiospermum). Infection in solid organ transplant recipients in a tertiary medical center and review of the literature. Medicine (Baltimore) (2002) 1.53
Identification of the non-lysosomal glucosylceramidase as beta-glucosidase 2. J Biol Chem (2006) 1.52
Influenza virus infection in adult solid organ transplant recipients. Am J Transplant (2002) 1.52
Phenotypic and genotypic heterogeneity in Gaucher disease type 1: a comparison between Brazil and the rest of the world. Mol Genet Metab (2006) 1.51
Side-to-side cavocavostomy with an endovascular stapler: Rescue technique for severe hepatic vein and/or inferior vena cava outflow obstruction after liver transplantation using the piggyback technique. Liver Transpl (2009) 1.51
Impaired trafficking of mutants of lysosomal glucocerebrosidase in Gaucher's disease. Int J Biochem Cell Biol (2005) 1.50
Assessing the statistical validity of proteomics based biomarkers. Anal Chim Acta (2007) 1.49
Targeting specific PDZ domains of PSD-95; structural basis for enhanced affinity and enzymatic stability of a cyclic peptide. Chem Biol (2004) 1.49
Fourier analysis of induced irregular astigmatism. Photorefractive keratectomy versus laser in situ keratomileusis in a bilateral cohort of hyperopic patients. J Cataract Refract Surg (2003) 1.49
Effects of ablation diameter on long-term refractive stability and corneal transparency after photorefractive keratectomy. Ophthalmology (2006) 1.47
Open source clinical science for emerging infections. Lancet Infect Dis (2014) 1.47
Age-related maculopathy and the impact of blue light hazard. Acta Ophthalmol Scand (2006) 1.47
Correction of the biochemical and functional deficits in fabry mice following AAV8-mediated hepatic expression of alpha-galactosidase A. Mol Ther (2006) 1.46
Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for parkinsonism and other Gaucher-related synucleinopathies. Proc Natl Acad Sci U S A (2013) 1.45
Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma. Nat Genet (2013) 1.45
Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. J Biol Chem (2005) 1.45
Duration of Antimicrobial Treatment for Bacteremia in Canadian Critically Ill Patients. Crit Care Med (2016) 1.44
Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention. Blood (2003) 1.44
Important issues in the design and reporting of clinical trials in severe sepsis and acute lung injury. J Crit Care (2008) 1.43