Published in J Biol Chem on April 13, 2011
High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets. Genet Med (2015) 1.22
Histone deacetylase inhibitors prevent the degradation and restore the activity of glucocerebrosidase in Gaucher disease. Proc Natl Acad Sci U S A (2011) 1.06
Treatment of Niemann--pick type C disease by histone deacetylase inhibitors. Neurotherapeutics (2013) 1.02
Niemann-Pick C disease and mobilization of lysosomal cholesterol by cyclodextrin. J Lipid Res (2014) 0.96
Genetic dissection of a cell-autonomous neurodegenerative disorder: lessons learned from mouse models of Niemann-Pick disease type C. Dis Model Mech (2013) 0.91
A murine Niemann-Pick C1 I1061T knock-in model recapitulates the pathological features of the most prevalent human disease allele. J Neurosci (2015) 0.89
Ryanodine receptor antagonists adapt NPC1 proteostasis to ameliorate lipid storage in Niemann-Pick type C disease fibroblasts. Hum Mol Genet (2012) 0.85
Histone deacetylase inhibition decreases cholesterol levels in neuronal cells by modulating key genes in cholesterol synthesis, uptake and efflux. PLoS One (2013) 0.84
An innovative approach to the treatment of Gaucher disease and possibly other metabolic disorders of the brain. J Inherit Metab Dis (2012) 0.83
Adenovirus RIDα uncovers a novel pathway requiring ORP1L for lipid droplet formation independent of NPC1. Mol Biol Cell (2013) 0.82
Epigenetic regulation of cholesterol homeostasis. Front Genet (2014) 0.80
Diagnostic workup and management of patients with suspected Niemann-Pick type C disease. Ther Adv Neurol Disord (2016) 0.80
The potential of histone deacetylase inhibitors in Niemann - Pick type C disease. FEBS J (2013) 0.80
Sphingolipid signalling mediates mitochondrial dysfunctions and reduced chronological lifespan in the yeast model of Niemann-Pick type C1. Mol Microbiol (2013) 0.77
Sphingolipids and mitochondrial function, lessons learned from yeast. Microb Cell (2014) 0.76
Endoplasmic reticulum-associated degradation of Niemann-Pick C1: evidence for the role of heat shock proteins and identification of lysine residues that accept ubiquitin. J Biol Chem (2014) 0.76
Histone deacetylase inhibitors correct the cholesterol storage defect in most Niemann-Pick C1 mutant cells. J Lipid Res (2017) 0.75
FTY720/fingolimod increases NPC1 and NPC2 expression and reduces cholesterol and sphingolipid accumulation in Niemann-Pick type C mutant fibroblasts. FASEB J (2017) 0.75
Normalization of Hepatic Homeostasis in the Npc1nmf164 Mouse Model of Niemann-Pick Type C Disease Treated with the Histone Deacetylase Inhibitor Vorinostat. J Biol Chem (2016) 0.75
Analytical Characterization of Methyl-β-Cyclodextrin for Pharmacological Activity to Reduce Lysosomal Cholesterol Accumulation in Niemann-Pick Disease Type C1 Cells. Assay Drug Dev Technol (2017) 0.75
Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods (2001) 414.27
Systematic genetic analysis with ordered arrays of yeast deletion mutants. Science (2001) 24.48
The genetic landscape of a cell. Science (2010) 16.52
Suberoylanilide hydroxamic acid, a histone deacetylase inhibitor, ameliorates motor deficits in a mouse model of Huntington's disease. Proc Natl Acad Sci U S A (2003) 4.44
The Saccharomyces cerevisiae Lipin homolog is a Mg2+-dependent phosphatidate phosphatase enzyme. J Biol Chem (2006) 4.37
Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study. Lancet Neurol (2007) 3.94
A comprehensive strategy enabling high-resolution functional analysis of the yeast genome. Nat Methods (2008) 3.79
Structure of N-terminal domain of NPC1 reveals distinct subdomains for binding and transfer of cholesterol. Cell (2009) 3.24
Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1-/- mouse. Proc Natl Acad Sci U S A (2009) 2.88
A defect in cholesterol esterification in Niemann-Pick disease (type C) patients. Proc Natl Acad Sci U S A (1985) 2.38
Histone deacetylase inhibitors: discovery and development as anticancer agents. Expert Opin Investig Drugs (2005) 2.03
Quantitative genetic analysis in Saccharomyces cerevisiae using epistatic miniarray profiles (E-MAPs) and its application to chromatin functions. Methods (2006) 1.96
MGCD0103, a novel isotype-selective histone deacetylase inhibitor, has broad spectrum antitumor activity in vitro and in vivo. Mol Cancer Ther (2008) 1.91
The integrity of a cholesterol-binding pocket in Niemann-Pick C2 protein is necessary to control lysosome cholesterol levels. Proc Natl Acad Sci U S A (2003) 1.86
The Princeton Protein Orthology Database (P-POD): a comparative genomics analysis tool for biologists. PLoS One (2007) 1.83
Binding between the Niemann-Pick C1 protein and a photoactivatable cholesterol analog requires a functional sterol-sensing domain. Proc Natl Acad Sci U S A (2004) 1.82
HDAC4 inhibits cell-cycle progression and protects neurons from cell death. Dev Neurobiol (2008) 1.56
Niemann-Pick C2 (NPC2) and intracellular cholesterol trafficking. Biochim Biophys Acta (2009) 1.54
Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1. Hum Mutat (2003) 1.54
Histone deacetylase inhibitor treatment dramatically reduces cholesterol accumulation in Niemann-Pick type C1 mutant human fibroblasts. Proc Natl Acad Sci U S A (2011) 1.46
Metabolic response to iron deficiency in Saccharomyces cerevisiae. J Biol Chem (2010) 1.43
Elevated endosomal cholesterol levels in Niemann-Pick cells inhibit rab4 and perturb membrane recycling. Mol Biol Cell (2004) 1.40
Microtubule deacetylases, SirT2 and HDAC6, in the nervous system. Neurochem Res (2006) 1.40
Functional dissection of the NuA4 histone acetyltransferase reveals its role as a genetic hub and that Eaf1 is essential for complex integrity. Mol Cell Biol (2008) 1.38
Cyclodextrin induces calcium-dependent lysosomal exocytosis. PLoS One (2010) 1.34
ScreenMill: a freely available software suite for growth measurement, analysis and visualization of high-throughput screen data. BMC Bioinformatics (2010) 1.30
Deregulation of cdk5, hyperphosphorylation, and cytoskeletal pathology in the Niemann-Pick type C murine model. J Neurosci (2002) 1.24
NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C. Hum Genet (1999) 1.23
Telomerase immortalization upregulates Rab9 expression and restores LDL cholesterol egress from Niemann-Pick C1 late endosomes. J Lipid Res (2002) 1.22
Quantitative determination of globotriaosylceramide by immunodetection of glycolipid-bound recombinant verotoxin B subunit. Anal Biochem (1999) 1.16
Imatinib therapy blocks cerebellar apoptosis and improves neurological symptoms in a mouse model of Niemann-Pick type C disease. FASEB J (2008) 1.14
Mutagenesis of the putative sterol-sensing domain of yeast Niemann Pick C-related protein reveals a primordial role in subcellular sphingolipid distribution. J Cell Biol (2004) 1.08
Specific activity of class II histone deacetylases in human breast cancer cells. Mol Cancer Res (2008) 1.07
Niemann-Pick C1 protein regulates cholesterol transport to the trans-Golgi network and plasma membrane caveolae. J Lipid Res (2002) 1.06
The SANT domain of p400 ATPase represses acetyltransferase activity and coactivator function of TIP60 in basal p21 gene expression. Mol Cell Biol (2010) 0.99
Defective cholesterol traffic and neuronal differentiation in neural stem cells of Niemann-Pick type C disease improved by valproic acid, a histone deacetylase inhibitor. Biochem Biophys Res Commun (2007) 0.94
Saccharomyces cerevisiae Npc2p is a functionally conserved homologue of the human Niemann-Pick disease type C 2 protein, hNPC2. Eukaryot Cell (2005) 0.88
Sites and temporal changes of gangliosides GM1/GM2 storage in the Niemann-Pick disease type C mouse brain. Brain Dev (2001) 0.86
Tritium suicide selection identifies proteins involved in the uptake and intracellular transport of sterols in Saccharomyces cerevisiae. Eukaryot Cell (2008) 0.84
Nystatin effects on vacuolar function in Saccharomyces cerevisiae. Biosci Biotechnol Biochem (1999) 0.82
Global mapping of the yeast genetic interaction network. Science (2004) 21.34
The genetic landscape of a cell. Science (2010) 16.52
Exploration of the function and organization of the yeast early secretory pathway through an epistatic miniarray profile. Cell (2005) 10.41
Functional dissection of protein complexes involved in yeast chromosome biology using a genetic interaction map. Nature (2007) 9.25
Cotranscriptional set2 methylation of histone H3 lysine 36 recruits a repressive Rpd3 complex. Cell (2005) 7.21
A combined experimental and computational strategy to define protein interaction networks for peptide recognition modules. Science (2001) 7.08
Methylation of histone H3 by Set2 in Saccharomyces cerevisiae is linked to transcriptional elongation by RNA polymerase II. Mol Cell Biol (2003) 6.79
An empirical framework for binary interactome mapping. Nat Methods (2008) 6.59
Mapping pathways and phenotypes by systematic gene overexpression. Mol Cell (2006) 6.42
Integration of chemical-genetic and genetic interaction data links bioactive compounds to cellular target pathways. Nat Biotechnol (2003) 5.60
A Snf2 family ATPase complex required for recruitment of the histone H2A variant Htz1. Mol Cell (2003) 5.57
Role of formins in actin assembly: nucleation and barbed-end association. Science (2002) 5.47
Exploration of essential gene functions via titratable promoter alleles. Cell (2004) 5.21
Navigating the chaperone network: an integrative map of physical and genetic interactions mediated by the hsp90 chaperone. Cell (2005) 4.95
Discovering modes of action for therapeutic compounds using a genome-wide screen of yeast heterozygotes. Cell (2004) 4.91
Synthetic genetic array analysis in Saccharomyces cerevisiae. Methods Mol Biol (2006) 4.45
A conserved RING finger protein required for histone H2B monoubiquitination and cell size control. Mol Cell (2003) 4.04
Exploring the mode-of-action of bioactive compounds by chemical-genetic profiling in yeast. Cell (2006) 4.03
Identification of a bacterial type III effector family with G protein mimicry functions. Cell (2006) 3.47
A genome-wide screen for methyl methanesulfonate-sensitive mutants reveals genes required for S phase progression in the presence of DNA damage. Proc Natl Acad Sci U S A (2002) 3.46
Combining biological networks to predict genetic interactions. Proc Natl Acad Sci U S A (2004) 3.18
A specificity map for the PDZ domain family. PLoS Biol (2008) 3.16
The synthetic genetic interaction spectrum of essential genes. Nat Genet (2005) 3.06
eSGA: E. coli synthetic genetic array analysis. Nat Methods (2008) 3.01
Hepatic Niemann-Pick C1-like 1 regulates biliary cholesterol concentration and is a target of ezetimibe. J Clin Invest (2007) 3.01
Formins direct Arp2/3-independent actin filament assembly to polarize cell growth in yeast. Nat Cell Biol (2002) 2.95
Genotype to phenotype: a complex problem. Science (2010) 2.92
Large-scale essential gene identification in Candida albicans and applications to antifungal drug discovery. Mol Microbiol (2003) 2.84
Formin leaky cap allows elongation in the presence of tight capping proteins. Curr Biol (2003) 2.69
Motifs, themes and thematic maps of an integrated Saccharomyces cerevisiae interaction network. J Biol (2005) 2.68
Quantitative analysis of fitness and genetic interactions in yeast on a genome scale. Nat Methods (2010) 2.67
The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast. Nat Genet (2007) 2.58
Functional genomics and proteomics: charting a multidimensional map of the yeast cell. Trends Cell Biol (2003) 2.46
Systematic mapping of genetic interaction networks. Annu Rev Genet (2009) 2.43
Dissecting DNA damage response pathways by analysing protein localization and abundance changes during DNA replication stress. Nat Cell Biol (2012) 2.40
Identifying transcription factor functions and targets by phenotypic activation. Proc Natl Acad Sci U S A (2006) 2.39
RMI1/NCE4, a suppressor of genome instability, encodes a member of the RecQ helicase/Topo III complex. EMBO J (2005) 2.34
Identification of protein complexes required for efficient sister chromatid cohesion. Mol Biol Cell (2004) 2.34
Formins: signaling effectors for assembly and polarization of actin filaments. J Cell Sci (2003) 2.31
Signature-tagged mutagenesis: barcoding mutants for genome-wide screens. Nat Rev Genet (2006) 2.30
Dap1/PGRMC1 binds and regulates cytochrome P450 enzymes. Cell Metab (2007) 2.30
Formins direct Arp2/3-independent actin filament assembly to polarize cell growth in yeast. Nat Cell Biol (2002) 2.27
Systematic exploration of essential yeast gene function with temperature-sensitive mutants. Nat Biotechnol (2011) 2.26
The DGA1 gene determines a second triglyceride synthetic pathway in yeast. J Biol Chem (2001) 2.22
Mechanism of formin-induced nucleation of actin filaments. Biochemistry (2003) 2.18
Ubiquitin-related modifier Urm1 acts as a sulphur carrier in thiolation of eukaryotic transfer RNA. Nature (2009) 2.14
Inactivation of NPC1L1 causes multiple lipid transport defects and protects against diet-induced hypercholesterolemia. J Biol Chem (2005) 2.12
A sterol-regulatory element binding protein is required for cell polarity, hypoxia adaptation, azole drug resistance, and virulence in Aspergillus fumigatus. PLoS Pathog (2008) 2.09
Elg1 forms an alternative RFC complex important for DNA replication and genome integrity. EMBO J (2003) 2.03
Significant conservation of synthetic lethal genetic interaction networks between distantly related eukaryotes. Proc Natl Acad Sci U S A (2008) 2.01
Golgi targeting of ARF-like GTPase Arl3p requires its Nalpha-acetylation and the integral membrane protein Sys1p. Nat Cell Biol (2004) 1.94
Molecular chaperone Hsp90 stabilizes Pih1/Nop17 to maintain R2TP complex activity that regulates snoRNA accumulation. J Cell Biol (2008) 1.92
Systematic exploration of synergistic drug pairs. Mol Syst Biol (2011) 1.89
Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome. Genes Dev (2011) 1.89
The phosphatidylinositol 4,5-biphosphate and TORC2 binding proteins Slm1 and Slm2 function in sphingolipid regulation. Mol Cell Biol (2006) 1.79
Transcriptional profiling identifies two members of the ATP-binding cassette transporter superfamily required for sterol uptake in yeast. J Biol Chem (2002) 1.78
High-resolution genetic mapping with ordered arrays of Saccharomyces cerevisiae deletion mutants. Genetics (2002) 1.78
Bayesian modeling of the yeast SH3 domain interactome predicts spatiotemporal dynamics of endocytosis proteins. PLoS Biol (2009) 1.78
Dosage suppression genetic interaction networks enhance functional wiring diagrams of the cell. Nat Biotechnol (2011) 1.77
Synthetic genetic array analysis of the PtdIns 4-kinase Pik1p identifies components in a Golgi-specific Ypt31/rab-GTPase signaling pathway. Mol Biol Cell (2004) 1.76
Transcription of the yeast iron regulon does not respond directly to iron but rather to iron-sulfur cluster biosynthesis. J Biol Chem (2004) 1.75
Complete genetic correction of ips cells from Duchenne muscular dystrophy. Mol Ther (2009) 1.74
Synthetic genetic array (SGA) analysis in Saccharomyces cerevisiae and Schizosaccharomyces pombe. Methods Enzymol (2010) 1.73
Systematic yeast synthetic lethal and synthetic dosage lethal screens identify genes required for chromosome segregation. Proc Natl Acad Sci U S A (2005) 1.72
Global gene deletion analysis exploring yeast filamentous growth. Science (2012) 1.67
The type III effector EspF coordinates membrane trafficking by the spatiotemporal activation of two eukaryotic signaling pathways. J Cell Biol (2007) 1.66
The interaction network of the chaperonin CCT. EMBO J (2008) 1.63
An integrated approach to characterize genetic interaction networks in yeast metabolism. Nat Genet (2011) 1.62
Acyl-coenzymeA (CoA):cholesterol acyltransferase inhibition in rat and human aortic smooth muscle cells is nontoxic and retards foam cell formation. Arterioscler Thromb Vasc Biol (2004) 1.62
A network of multi-tasking proteins at the DNA replication fork preserves genome stability. PLoS Genet (2005) 1.61
Genome-wide lethality screen identifies new PI4,5P2 effectors that regulate the actin cytoskeleton. EMBO J (2004) 1.59
Chemical chaperone therapy for brain pathology in G(M1)-gangliosidosis. Proc Natl Acad Sci U S A (2003) 1.57
Mode of selection and experimental evolution of antifungal drug resistance in Saccharomyces cerevisiae. Genetics (2003) 1.57
Yeast Barcoders: a chemogenomic application of a universal donor-strain collection carrying bar-code identifiers. Nat Methods (2008) 1.56
Global map of SUMO function revealed by protein-protein interaction and genetic networks. Mol Cell (2009) 1.55
Upregulated function of mitochondria-associated ER membranes in Alzheimer disease. EMBO J (2012) 1.53
The origin recognition complex links replication, sister chromatid cohesion and transcriptional silencing in Saccharomyces cerevisiae. Genetics (2004) 1.49
Identifying specificity profiles for peptide recognition modules from phage-displayed peptide libraries. Nat Protoc (2007) 1.49
Mrc1 is required for sister chromatid cohesion to aid in recombination repair of spontaneous damage. Mol Cell Biol (2004) 1.48
Problems with co-funding in Canada. Science (2005) 1.48
An interactional network of genes involved in chitin synthesis in Saccharomyces cerevisiae. BMC Genet (2005) 1.47
The extensive and condition-dependent nature of epistasis among whole-genome duplicates in yeast. Genome Res (2008) 1.44
Metabolic response to iron deficiency in Saccharomyces cerevisiae. J Biol Chem (2010) 1.43
DRYGIN: a database of quantitative genetic interaction networks in yeast. Nucleic Acids Res (2009) 1.41
Class B type I scavenger receptor is responsible for the high affinity cholesterol binding activity of intestinal brush border membrane vesicles. Biochim Biophys Acta (2007) 1.38
Synthetic lethal analysis implicates Ste20p, a p21-activated potein kinase, in polarisome activation. Mol Biol Cell (2003) 1.37
Integrating high-throughput genetic interaction mapping and high-content screening to explore yeast spindle morphogenesis. J Cell Biol (2010) 1.36
Bringing order to protein disorder through comparative genomics and genetic interactions. Genome Biol (2011) 1.34
Cyclodextrin induces calcium-dependent lysosomal exocytosis. PLoS One (2010) 1.34
Genome-wide expression profiling reveals genes associated with amphotericin B and fluconazole resistance in experimentally induced antifungal resistant isolates of Candida albicans. J Antimicrob Chemother (2004) 1.33
Ybp2 associates with the central kinetochore of Saccharomyces cerevisiae and mediates proper mitotic progression. PLoS One (2008) 1.31
Mot3 is a transcriptional repressor of ergosterol biosynthetic genes and is required for normal vacuolar function in Saccharomyces cerevisiae. EMBO J (2002) 1.29
Charting the genetic interaction map of a cell. Curr Opin Biotechnol (2010) 1.28
Identification of a novel lysophospholipid acyltransferase in Saccharomyces cerevisiae. J Biol Chem (2007) 1.28
Multiple plasma membrane receptors but not NPC1L1 mediate high-affinity, ezetimibe-sensitive cholesterol uptake into the intestinal brush border membrane. Biochim Biophys Acta (2007) 1.28