Published in Proc Natl Acad Sci U S A on October 15, 2012
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Gaucher iPSC-derived macrophages produce elevated levels of inflammatory mediators and serve as a new platform for therapeutic development. Stem Cells (2014) 0.98
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Human iPSC-derived osteoblasts and osteoclasts together promote bone regeneration in 3D biomaterials. Sci Rep (2016) 0.84
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Progress and potential of non-inhibitory small molecule chaperones for the treatment of Gaucher disease and its implications for Parkinson disease. Expert Rev Proteomics (2016) 0.83
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Cardiovascular Disease Modeling Using Patient-Specific Induced Pluripotent Stem Cells. Int J Mol Sci (2015) 0.80
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Induced pluripotent stem cell derived macrophages as a cellular system to study salmonella and other pathogens. PLoS One (2015) 0.76
The Use of Patient-Specific Induced Pluripotent Stem Cells (iPSCs) to Identify Osteoclast Defects in Rare Genetic Bone Disorders. J Clin Med (2014) 0.76
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Induced pluripotent stem cell potential in medicine, specifically focused on reproductive medicine. Front Surg (2014) 0.75
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Activity and High-Order Effective Connectivity Alterations in Sanfilippo C Patient-Specific Neuronal Networks. Stem Cell Reports (2015) 0.75
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Induced Pluripotent Stem Cells for Disease Modeling and Evaluation of Therapeutics for Niemann-Pick Disease Type A. Stem Cells Transl Med (2016) 0.75
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Disease-specific induced pluripotent stem cells. Cell (2008) 16.95
Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons. Science (2008) 14.26
Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies. Cell (2011) 6.23
Modelling the long QT syndrome with induced pluripotent stem cells. Nature (2011) 5.68
Probing sporadic and familial Alzheimer's disease using induced pluripotent stem cells. Nature (2012) 5.47
The promise of induced pluripotent stem cells in research and therapy. Nature (2012) 5.05
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A block of autophagy in lysosomal storage disorders. Hum Mol Genet (2007) 3.28
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Telomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients. Nature (2010) 2.36
Enzyme replacement for lysosomal diseases. Annu Rev Med (2006) 2.26
The iminosugar isofagomine increases the activity of N370S mutant acid beta-glucosidase in Gaucher fibroblasts by several mechanisms. Proc Natl Acad Sci U S A (2006) 1.96
Model for long QT syndrome type 2 using human iPS cells demonstrates arrhythmogenic characteristics in cell culture. Dis Model Mech (2011) 1.87
The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations. Arch Neurol (2008) 1.87
Three classes of glucocerebrosidase inhibitors identified by quantitative high-throughput screening are chaperone leads for Gaucher disease. Proc Natl Acad Sci U S A (2007) 1.70
Gaucher disease: pathological mechanisms and modern management. Br J Haematol (2005) 1.65
Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype. Mol Genet Metab (2002) 1.49
The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase. FEBS J (2010) 1.42
Pharmacologic chaperoning as a strategy to treat Gaucher disease. FEBS J (2007) 1.29
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Ex vivo and in vivo effects of isofagomine on acid β-glucosidase variants and substrate levels in Gaucher disease. J Biol Chem (2011) 1.13
Isofagomine induced stabilization of glucocerebrosidase. Chembiochem (2008) 1.09
Role of phosphatidylinositol-3 kinase in transcriptional regulation of TLR-induced IL-12 and IL-10 by Fc gamma receptor ligation in murine macrophages. J Immunol (2007) 1.07
Isofagomine increases lysosomal delivery of exogenous glucocerebrosidase. Biochem Biophys Res Commun (2008) 1.04
Gaucher disease with foamy transformed macrophages and erythrophagocytic activity. J Inherit Metab Dis (2010) 0.98
A histochemical and electron microscopic study of Gaucher cells. Arch Pathol (1970) 0.95
Modelling familial dysautonomia in human induced pluripotent stem cells. Philos Trans R Soc Lond B Biol Sci (2011) 0.92
Erythrophagocytosis in Gaucher cells. Arch Pathol Lab Med (2004) 0.90
Impaired autophagosomes and lysosomes in neuronopathic Gaucher disease. Autophagy (2010) 0.90
Glucosylceramide in humans. Adv Exp Med Biol (2010) 0.90
Therapeutic approaches to bone pathology in Gaucher disease: past, present and future. Mol Genet Metab (2011) 0.89
An ultrastructural and experimental study on the development of tubular structures in the lysosomes of Gaucher cells. Lab Invest (1988) 0.83
A perivascular origin for mesenchymal stem cells in multiple human organs. Cell Stem Cell (2008) 18.18
Preinvasive and invasive ductal pancreatic cancer and its early detection in the mouse. Cancer Cell (2003) 15.43
The AIM2 inflammasome is essential for host defense against cytosolic bacteria and DNA viruses. Nat Immunol (2010) 7.47
Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies. Cell (2011) 6.23
Regulation of Raf-1 by direct feedback phosphorylation. Mol Cell (2005) 5.88
HIV-1 envelope protein binds to and signals through integrin alpha4beta7, the gut mucosal homing receptor for peripheral T cells. Nat Immunol (2008) 5.01
TLR4, but not TLR2, mediates IFN-beta-induced STAT1alpha/beta-dependent gene expression in macrophages. Nat Immunol (2002) 4.63
The human plasma proteome: a nonredundant list developed by combination of four separate sources. Mol Cell Proteomics (2004) 4.48
Human Proteinpedia enables sharing of human protein data. Nat Biotechnol (2008) 4.21
Identification of JmjC domain-containing UTX and JMJD3 as histone H3 lysine 27 demethylases. Proc Natl Acad Sci U S A (2007) 4.20
An accurate mass tag strategy for quantitative and high-throughput proteome measurements. Proteomics (2002) 4.10
Detection of functional haematopoietic stem cell niche using real-time imaging. Nature (2008) 4.06
Telomerase modulates Wnt signalling by association with target gene chromatin. Nature (2009) 3.96
Proteomic and biochemical analysis of purified human immunodeficiency virus type 1 produced from infected monocyte-derived macrophages. J Virol (2006) 3.59
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum Mutat (2008) 3.53
A universal system for highly efficient cardiac differentiation of human induced pluripotent stem cells that eliminates interline variability. PLoS One (2011) 3.39
Self-regulated Plk1 recruitment to kinetochores by the Plk1-PBIP1 interaction is critical for proper chromosome segregation. Mol Cell (2006) 3.38
Characterization of the low molecular weight human serum proteome. Mol Cell Proteomics (2003) 3.34
A human telomerase holoenzyme protein required for Cajal body localization and telomere synthesis. Science (2009) 3.34
Regulation of androgen receptor activity by tyrosine phosphorylation. Cancer Cell (2006) 3.16
Glucocerebrosidase mutations in subjects with parkinsonism. Mol Genet Metab (2004) 3.06
Identification and characterization of nonmuscle myosin II-C, a new member of the myosin II family. J Biol Chem (2003) 2.98
Toll receptors, CD14, and macrophage activation and deactivation by LPS. Microbes Infect (2002) 2.90
Negative regulation of Toll-like receptor 4 signaling by the Toll-like receptor homolog RP105. Nat Immunol (2005) 2.85
Reduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson's disease. Brain (2014) 2.74
SIRT2 maintains genome integrity and suppresses tumorigenesis through regulating APC/C activity. Cancer Cell (2011) 2.73
Importance of communication between producers and consumers of publicly available experimental data. J Natl Cancer Inst (2005) 2.63
The SELDI-TOF MS approach to proteomics: protein profiling and biomarker identification. Biochem Biophys Res Commun (2002) 2.51
Neuropathology provides clues to the pathophysiology of Gaucher disease. Mol Genet Metab (2004) 2.46
Expression of angiotensin-converting enzyme (CD143) identifies and regulates primitive hemangioblasts derived from human pluripotent stem cells. Blood (2008) 2.36
A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. JAMA Neurol (2013) 2.32
An antiproliferative factor from interstitial cystitis patients is a frizzled 8 protein-related sialoglycopeptide. Proc Natl Acad Sci U S A (2004) 2.28
Caenorhabditis elegans functional orthologue of human protein h-mucolipin-1 is required for lysosome biogenesis. Proc Natl Acad Sci U S A (2004) 2.28
FXR acetylation is normally dynamically regulated by p300 and SIRT1 but constitutively elevated in metabolic disease states. Cell Metab (2009) 2.27
The chemotherapeutic agent DMXAA potently and specifically activates the TBK1-IRF-3 signaling axis. J Exp Med (2007) 2.23
The CATERPILLER protein monarch-1 is an antagonist of toll-like receptor-, tumor necrosis factor alpha-, and Mycobacterium tuberculosis-induced pro-inflammatory signals. J Biol Chem (2005) 2.21
Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease. Mol Genet Metab (2007) 2.21
Identification of ATPases pontin and reptin as telomerase components essential for holoenzyme assembly. Cell (2008) 2.20
SIRT1 deacetylates and inhibits SREBP-1C activity in regulation of hepatic lipid metabolism. J Biol Chem (2010) 2.20
Histone H2A.Z cooperates with RNAi and heterochromatin factors to suppress antisense RNAs. Nature (2009) 2.19
Selective roles for Toll-like receptor (TLR)2 and TLR4 in the regulation of neutrophil activation and life span. J Immunol (2003) 2.18
Immunologic consequences of Francisella tularensis live vaccine strain infection: role of the innate immune response in infection and immunity. J Immunol (2006) 2.16
Dysregulation of LPS-induced Toll-like receptor 4-MyD88 complex formation and IL-1 receptor-associated kinase 1 activation in endotoxin-tolerant cells. J Immunol (2002) 2.11
Circulating estrogens and estrogens within the breast among postmenopausal BRCA1/2 mutation carriers. Breast Cancer Res Treat (2014) 2.10
Francisella tularensis live vaccine strain induces macrophage alternative activation as a survival mechanism. J Immunol (2008) 2.06
Protein phosphatase 2A positively regulates Ras signaling by dephosphorylating KSR1 and Raf-1 on critical 14-3-3 binding sites. Curr Biol (2003) 1.98
Gliadin induces an increase in intestinal permeability and zonulin release by binding to the chemokine receptor CXCR3. Gastroenterology (2008) 1.98
Toll-like receptor 2-mediated signaling requirements for Francisella tularensis live vaccine strain infection of murine macrophages. Infect Immun (2007) 1.98
Role of the phosphatidylinositol 3 kinase-Akt pathway in the regulation of IL-10 and IL-12 by Porphyromonas gingivalis lipopolysaccharide. J Immunol (2003) 1.96
NMDA di-heteromeric receptor populations and associated proteins in rat hippocampus. J Neurosci (2007) 1.95
Toll-like receptor 2 is required for inflammatory responses to Francisella tularensis LVS. Infect Immun (2006) 1.93
Overexpression of monocyte chemoattractant protein 1 in the brain exacerbates ischemic brain injury and is associated with recruitment of inflammatory cells. J Cereb Blood Flow Metab (2003) 1.93
An investigation into the human serum "interactome". Electrophoresis (2004) 1.93
Proteomic analysis of formalin-fixed prostate cancer tissue. Mol Cell Proteomics (2005) 1.91
Casein kinase 1alpha governs antigen-receptor-induced NF-kappaB activation and human lymphoma cell survival. Nature (2008) 1.91
Quantitative measurement of endogenous estrogens and estrogen metabolites in human serum by liquid chromatography-tandem mass spectrometry. Anal Chem (2007) 1.91
Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders. Arch Neurol (2008) 1.89
MYC-driven accumulation of 2-hydroxyglutarate is associated with breast cancer prognosis. J Clin Invest (2013) 1.89
Brugia malayi excreted/secreted proteins at the host/parasite interface: stage- and gender-specific proteomic profiling. PLoS Negl Trop Dis (2009) 1.88
Analysis of TLR4 polymorphic variants: new insights into TLR4/MD-2/CD14 stoichiometry, structure, and signaling. J Immunol (2006) 1.88
TLR4/MyD88/PI3K interactions regulate TLR4 signaling. J Leukoc Biol (2009) 1.87
The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations. Arch Neurol (2008) 1.87
Tolerance to microbial TLR ligands: molecular mechanisms and relevance to disease. J Endotoxin Res (2006) 1.86
Mouse, but not human STING, binds and signals in response to the vascular disrupting agent 5,6-dimethylxanthenone-4-acetic acid. J Immunol (2013) 1.85
Measuring fifteen endogenous estrogens simultaneously in human urine by high-performance liquid chromatography-mass spectrometry. Anal Chem (2005) 1.85
Distinct mutations in IRAK-4 confer hyporesponsiveness to lipopolysaccharide and interleukin-1 in a patient with recurrent bacterial infections. J Exp Med (2003) 1.83
Proteomic analysis of laser-captured paraffin-embedded tissues: a molecular portrait of head and neck cancer progression. Clin Cancer Res (2008) 1.83
Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease. Am J Hum Genet (2003) 1.81
An angiogenic switch in macrophages involving synergy between Toll-like receptors 2, 4, 7, and 9 and adenosine A(2A) receptors. Am J Pathol (2003) 1.80
Using peripheral blood mononuclear cells to determine a gene expression profile of acute ischemic stroke: a pilot investigation. Circulation (2005) 1.79
Role of TLR4 tyrosine phosphorylation in signal transduction and endotoxin tolerance. J Biol Chem (2007) 1.78
The TLR4 antagonist Eritoran protects mice from lethal influenza infection. Nature (2013) 1.78
Regulation of androgen receptor transcriptional activity and specificity by RNF6-induced ubiquitination. Cancer Cell (2009) 1.77
Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3. J Pediatr (2003) 1.75
Covalent binding to tubulin by isothiocyanates. A mechanism of cell growth arrest and apoptosis. J Biol Chem (2008) 1.73
Detection of bladder cancer in human urine by metabolomic profiling using high performance liquid chromatography/mass spectrometry. J Urol (2008) 1.72
Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela. Mov Disord (2006) 1.72
Increased serum levels of complement C3a anaphylatoxin indicate the presence of colorectal tumors. Gastroenterology (2006) 1.72
Exploring the link between glucocerebrosidase mutations and parkinsonism. Trends Mol Med (2011) 1.71
Three classes of glucocerebrosidase inhibitors identified by quantitative high-throughput screening are chaperone leads for Gaucher disease. Proc Natl Acad Sci U S A (2007) 1.70
Contribution of interferon-beta to the murine macrophage response to the toll-like receptor 4 agonist, lipopolysaccharide. J Biol Chem (2006) 1.70
CK2 Is a component of the KSR1 scaffold complex that contributes to Raf kinase activation. Curr Biol (2006) 1.69
A sulfilimine bond identified in collagen IV. Science (2009) 1.69
Coupling morphogenesis to mitotic entry. Proc Natl Acad Sci U S A (2004) 1.68
Oxidant-induced apoptosis is mediated by oxidation of the actin-regulatory protein cofilin. Nat Cell Biol (2009) 1.68
Concerted mechanism of Swe1/Wee1 regulation by multiple kinases in budding yeast. EMBO J (2005) 1.67
Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal. Neurobiol Aging (2007) 1.67
Identification of human zonulin, a physiological modulator of tight junctions, as prehaptoglobin-2. Proc Natl Acad Sci U S A (2009) 1.67
Macrophage proinflammatory response to Francisella tularensis live vaccine strain requires coordination of multiple signaling pathways. J Immunol (2008) 1.64
Glucocerebrosidase is present in α-synuclein inclusions in Lewy body disorders. Acta Neuropathol (2010) 1.63