Published in PLoS One on October 29, 2012
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
Structural basis for ligand regulation of the fatty acid-binding protein 5, peroxisome proliferator-activated receptor β/δ (FABP5-PPARβ/δ) signaling pathway. J Biol Chem (2014) 0.90
Cholesterol homeostatic responses provide biomarkers for monitoring treatment for the neurodegenerative disease Niemann-Pick C1 (NPC1). Hum Mol Genet (2014) 0.85
Adaptations of energy metabolism associated with increased levels of mitochondrial cholesterol in Niemann-Pick type C1-deficient cells. J Biol Chem (2014) 0.83
Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann-Pick disease, type C1. Hum Mol Genet (2013) 0.83
Pre-symptomatic activation of antioxidant responses and alterations in glucose and pyruvate metabolism in Niemann-Pick Type C1-deficient murine brain. PLoS One (2013) 0.82
Gpnmb Is a Potential Marker for the Visceral Pathology in Niemann-Pick Type C Disease. PLoS One (2016) 0.82
Quantitative Proteomics of Human Fibroblasts with I1061T Mutation in Niemann-Pick C1 (NPC1) Protein Provides Insights into the Disease Pathogenesis. Mol Cell Proteomics (2015) 0.81
Vitamin E dietary supplementation improves neurological symptoms and decreases c-Abl/p73 activation in Niemann-Pick C mice. Nutrients (2014) 0.78
Immune dysfunction in Niemann-Pick disease type C. J Neurochem (2015) 0.78
Sphingolipid signalling mediates mitochondrial dysfunctions and reduced chronological lifespan in the yeast model of Niemann-Pick type C1. Mol Microbiol (2013) 0.77
Cerebrospinal Fluid Calbindin D Concentration as a Biomarker of Cerebellar Disease Progression in Niemann-Pick Type C1 Disease. J Pharmacol Exp Ther (2016) 0.77
Pharmacologic Treatment Assigned for Niemann Pick Type C1 Disease Partly Changes Behavioral Traits in Wild-Type Mice. Int J Mol Sci (2016) 0.76
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
The Proteome Profiles of the Cerebellum of Juvenile, Adult and Aged Rats--An Ontogenetic Study. Int J Mol Sci (2015) 0.75
ProteinProcessor: A probabilistic analysis using mass accuracy and the MS spectrum. Proteomics (2016) 0.75
Fostering collaborative research for rare genetic disease: the example of niemann-pick type C disease. Orphanet J Rare Dis (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
NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls. Sci Rep (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
Empirical statistical model to estimate the accuracy of peptide identifications made by MS/MS and database search. Anal Chem (2002) 35.30
A statistical model for identifying proteins by tandem mass spectrometry. Anal Chem (2003) 29.58
WebGestalt: an integrated system for exploring gene sets in various biological contexts. Nucleic Acids Res (2005) 12.88
Substrate and functional diversity of lysine acetylation revealed by a proteomics survey. Mol Cell (2006) 11.38
The ESCRT machinery in endosomal sorting of ubiquitylated membrane proteins. Nature (2009) 6.99
Fatty acid-binding proteins: role in metabolic diseases and potential as drug targets. Nat Rev Drug Discov (2008) 5.78
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. Nat Genet (2005) 4.21
Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study. Lancet Neurol (2007) 3.94
Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium. Nat Med (2008) 3.86
Niemann-Pick disease type C. Clin Genet (2003) 3.64
ESCRTing proteins in the endocytic pathway. Trends Biochem Sci (2007) 3.48
Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease. Sci Transl Med (2010) 3.42
Helical structures of ESCRT-III are disassembled by VPS4. Science (2008) 3.38
A method for reducing the time required to match protein sequences with tandem mass spectra. Rapid Commun Mass Spectrom (2003) 3.32
Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression. PLoS One (2009) 2.90
Niemann-Pick disease type C: diagnosis and outcome in children, with particular reference to liver disease. J Pediatr (1993) 2.32
Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C. Am J Med Genet B Neuropsychiatr Genet (2010) 2.08
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B). Neurology (2006) 2.00
Gamma-secretase-dependent amyloid-beta is increased in Niemann-Pick type C: a cross-sectional study. Neurology (2010) 1.78
Cell-autonomous death of cerebellar purkinje neurons with autophagy in Niemann-Pick type C disease. PLoS Genet (2005) 1.77
A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma. J Lipid Res (2011) 1.76
Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study. Mol Genet Metab (2009) 1.72
Omega-3 fatty acids and monoamine neurotransmission. Prostaglandins Leukot Essent Fatty Acids (2006) 1.71
NPC1 and NPC2 regulate cellular cholesterol homeostasis through generation of low density lipoprotein cholesterol-derived oxysterols. J Biol Chem (2003) 1.69
Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: a case series. Mol Genet Metab (2009) 1.52
Niemann-Pick C1 protects against atherosclerosis in mice via regulation of macrophage intracellular cholesterol trafficking. J Clin Invest (2008) 1.51
Long-term miglustat therapy in children with Niemann-Pick disease type C. J Child Neurol (2009) 1.46
Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways. Mol Genet Metab (2000) 1.44
Postnatal development of inflammation in a murine model of Niemann-Pick type C disease: immunohistochemical observations of microglia and astroglia. Exp Neurol (2003) 1.38
Cdk5 behind the wheel: a role in trafficking and transport? Trends Cell Biol (2002) 1.38
Clues to neuro-degeneration in Niemann-Pick type C disease from global gene expression profiling. PLoS One (2006) 1.37
Unesterified cholesterol accumulation in late endosomes/lysosomes causes neurodegeneration and is prevented by driving cholesterol export from this compartment. J Neurosci (2011) 1.33
Oxidative stress in NPC1 deficient cells: protective effect of allopregnanolone. J Cell Mol Med (2008) 1.33
Apoptosis accompanied by up-regulation of TNF-alpha death pathway genes in the brain of Niemann-Pick type C disease. Mol Genet Metab (2005) 1.32
Mammalian class E Vps proteins, SBP1 and mVps2/CHMP2A, interact with and regulate the function of an AAA-ATPase SKD1/Vps4B. J Cell Sci (2004) 1.27
Mitochondrial phosphoproteome revealed by an improved IMAC method and MS/MS/MS. Mol Cell Proteomics (2007) 1.27
The pathophysiology and mechanisms of NP-C disease. Biochim Biophys Acta (2004) 1.23
Niemann-Pick type C: a disorder of cellular cholesterol trafficking. Biochim Biophys Acta (2000) 1.19
Conditional Niemann-Pick C mice demonstrate cell autonomous Purkinje cell neurodegeneration. Hum Mol Genet (2009) 1.18
Oxidative stress in Niemann-Pick disease, type C. Mol Genet Metab (2010) 1.18
Neurodegeneration in Niemann-Pick type C disease mice. Exp Brain Res (2001) 1.11
Activation of human VPS4A by ESCRT-III proteins reveals ability of substrates to relieve enzyme autoinhibition. J Biol Chem (2010) 1.08
Site-specific phosphorylation of tau accompanied by activation of mitogen-activated protein kinase (MAPK) in brains of Niemann-Pick type C mice. J Biol Chem (2001) 1.08
Cerebellar involvement in murine sphingomyelinosis: a new model of Niemann-Pick disease. J Neuropathol Exp Neurol (1988) 1.05
Activation of Rho GTPases in Smith-Lemli-Opitz syndrome: pathophysiological and clinical implications. Hum Mol Genet (2010) 1.05
Brain- and heart-type fatty acid-binding proteins in the brain: tissue distribution and clinical utility. Clin Chem (2004) 1.04
Neuronal loss of Drosophila NPC1a causes cholesterol aggregation and age-progressive neurodegeneration. J Neurosci (2008) 1.04
Rescue of neurodegeneration in Niemann-Pick C mice by a prion-promoter-driven Npc1 cDNA transgene. Hum Mol Genet (2002) 1.03
Oxidative stress activates the c-Abl/p73 proapoptotic pathway in Niemann-Pick type C neurons. Neurobiol Dis (2010) 1.02
Fatty acid binding proteins in brain development and disease. Int J Dev Biol (2010) 1.01
Early glial activation, synaptic changes and axonal pathology in the thalamocortical system of Niemann-Pick type C1 mice. Neurobiol Dis (2011) 1.00
Heart fatty acid binding protein as a potential diagnostic marker for neurodegenerative diseases. Neurosci Lett (2004) 0.99
L-serine synthesis in the central nervous system: a review on serine deficiency disorders. Mol Genet Metab (2009) 0.96
Alpha1-antichymotrypsin, an inflammatory protein overexpressed in Alzheimer's disease brain, induces tau phosphorylation in neurons. Brain (2006) 0.96
Temporal and cell-specific deletion establishes that neuronal Npc1 deficiency is sufficient to mediate neurodegeneration. Hum Mol Genet (2011) 0.96
Quantitative proteomics analysis of inborn errors of cholesterol synthesis: identification of altered metabolic pathways in DHCR7 and SC5D deficiency. Mol Cell Proteomics (2010) 0.94
CSF levels of heart fatty acid binding protein are altered during early phases of Alzheimer's disease. J Alzheimers Dis (2010) 0.93
Chronic exposure to U18666A is associated with oxidative stress in cultured murine cortical neurons. J Neurochem (2006) 0.90
Cholesterol depletion facilitates ubiquitylation of NPC1 and its association with SKD1/Vps4. J Cell Sci (2006) 0.86
Differential expression of FABP 3, 5, 7 in infantile and adult monkey cerebellum. Neurosci Res (2010) 0.84
Two-dimensional gel electrophoresis maps of the proteome and phosphoproteome of primitively cultured rat mesangial cells. Electrophoresis (2005) 0.83
Niemann-Pick disease type C: unique 2-deoxy-2[¹⁸F] fluoro-D-glucose PET abnormality. Pediatr Neurol (2011) 0.82
The attenuated elevation of cytoplasmic calcium concentration following the uptake of low density lipoprotein in type C Niemann-Pick fibroblasts. Biochem Biophys Res Commun (1994) 0.80
Multivesicular bodies in cortical dendrites of two patients with Alzheimer's disease. J Neurol Sci (1978) 0.78
Loss of amyloid precursor protein in a mouse model of Niemann-Pick type C disease exacerbates its phenotype and disrupts tau homeostasis. Neurobiol Dis (2011) 0.78
Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease. Sci Transl Med (2010) 3.42
Alternative calibration strategies for the clinical laboratory: application to nortriptyline therapeutic drug monitoring. Clin Chem (2013) 2.64
A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis. Nat Genet (2003) 2.29
Rabenosyn-5 and EHD1 interact and sequentially regulate protein recycling to the plasma membrane. Mol Biol Cell (2004) 2.10
Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C. Am J Med Genet B Neuropsychiatr Genet (2010) 2.08
De-AMPylation of the small GTPase Rab1 by the pathogen Legionella pneumophila. Science (2011) 1.98
A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma. J Lipid Res (2011) 1.76
RNase H2 of Saccharomyces cerevisiae is a complex of three proteins. Nucleic Acids Res (2004) 1.51
Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency. Hum Mol Genet (2003) 1.45
3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome. Mol Genet Metab (2004) 1.30
Characterization of the 3a protein of SARS-associated coronavirus in infected vero E6 cells and SARS patients. J Mol Biol (2004) 1.26
Identification of 7(8) and 8(9) unsaturated adrenal steroid metabolites produced by patients with 7-dehydrosterol-delta7-reductase deficiency (Smith-Lemli-Opitz syndrome). J Steroid Biochem Mol Biol (2002) 1.24
Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts. Mol Genet Metab (2005) 1.24
δ-Tocopherol reduces lipid accumulation in Niemann-Pick type C1 and Wolman cholesterol storage disorders. J Biol Chem (2012) 1.23
Collaborative development of 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick type C1 disease. Curr Top Med Chem (2014) 1.19
Oxidative stress in Niemann-Pick disease, type C. Mol Genet Metab (2010) 1.18
De novo sequencing of peptides using MALDI/TOF-TOF. J Am Soc Mass Spectrom (2002) 1.17
Niemann-pick disease type C: implications for sedation and anesthesia for diagnostic procedures. J Child Neurol (2012) 1.17
LIM homeobox transcription factors integrate signaling events that control three-dimensional limb patterning and growth. Development (2009) 1.13
Quantifying proteins by mass spectrometry: the selectivity of SRM is only part of the problem. Proteomics (2009) 1.12
Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy. Hum Mol Genet (2006) 1.11
Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1. Hum Mol Genet (2012) 1.10
Smith-Lemli-Opitz syndrome and autism spectrum disorder. Am J Psychiatry (2007) 1.08
The implications of 7-dehydrosterol-7-reductase deficiency (Smith-Lemli-Opitz syndrome) to neurosteroid production. Steroids (2004) 1.08
A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta. Genet Med (2012) 1.08
Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling. J Lipid Res (2013) 1.07
Activation of Rho GTPases in Smith-Lemli-Opitz syndrome: pathophysiological and clinical implications. Hum Mol Genet (2010) 1.05
Cholesterol deficiency in a mouse model of Smith-Lemli-Opitz syndrome reveals increased mast cell responsiveness. J Exp Med (2006) 1.05
Analysis of short-term behavioral effects of dietary cholesterol supplementation in Smith-Lemli-Opitz syndrome. Am J Med Genet A (2010) 1.05
Abnormal sterols in cholesterol-deficiency diseases cause secretory granule malformation and decreased membrane curvature. J Cell Sci (2006) 1.04
De novo peptide sequencing using exhaustive enumeration of peptide composition. J Am Soc Mass Spectrom (2006) 1.03
Succinate dehydrogenase (SDH) D subunit (SDHD) inactivation in a growth-hormone-producing pituitary tumor: a new association for SDH? J Clin Endocrinol Metab (2011) 1.00
Quantitative phosphoproteome profiling of Wnt3a-mediated signaling network: indicating the involvement of ribonucleoside-diphosphate reductase M2 subunit phosphorylation at residue serine 20 in canonical Wnt signal transduction. Mol Cell Proteomics (2007) 0.99
Susceptibility of the hydroxyl groups in serine and threonine to beta-elimination/Michael addition under commonly used moderately high-temperature conditions. Anal Biochem (2003) 0.98
27-Hydroxylation of 7- and 8-dehydrocholesterol in Smith-Lemli-Opitz syndrome: a novel metabolic pathway. Steroids (2003) 0.97
Quantitative femto- to attomole immunodetection of regulated secretory vesicle proteins critical to exocytosis. Anal Biochem (2002) 0.97
Regulated secretion: SNARE density, vesicle fusion and calcium dependence. J Cell Sci (2003) 0.96
Characterization of placental cholesterol transport: ABCA1 is a potential target for in utero therapy of Smith-Lemli-Opitz syndrome. Hum Mol Genet (2008) 0.96
HEM dysplasia and ichthyosis are likely laminopathies and not due to 3beta-hydroxysterol Delta14-reductase deficiency. Hum Mol Genet (2007) 0.95
Cholesterol biosynthesis from birth to adulthood in a mouse model for 7-dehydrosterol reductase deficiency (Smith-Lemli-Opitz syndrome). Steroids (2007) 0.95
Quantitative proteomics analysis of inborn errors of cholesterol synthesis: identification of altered metabolic pathways in DHCR7 and SC5D deficiency. Mol Cell Proteomics (2010) 0.94
Cholesterol storage defect in RSH/Smith-Lemli-Opitz syndrome fibroblasts. Mol Genet Metab (2002) 0.93
Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome. Am J Med Genet A (2013) 0.93
Carrier frequency of the RSH/Smith-Lemli-Opitz IVS8-1G>C mutation in African Americans. Am J Med Genet A (2003) 0.92
Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker. J Clin Invest (2014) 0.92
An initial proteomic analysis of human preterm labor: placental membranes. J Proteome Res (2006) 0.91
Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1. J Inherit Metab Dis (2013) 0.91
Calculation of the isotope cluster for polypeptides by probability grouping. J Am Soc Mass Spectrom (2008) 0.90
Cholesterol metabolism and suicidality in Smith-Lemli-Opitz syndrome carriers. Am J Psychiatry (2004) 0.89
Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of disease. Annu Rev Genomics Hum Genet (2014) 0.88
Hippocampal protein-protein interactions in spatial memory. Hippocampus (2004) 0.88
Anesthesia and airway management of pediatric patients with Smith-Lemli-Opitz syndrome. Anesthesiology (2002) 0.88
Novel lipid hydroperoxide-derived hemoglobin histidine adducts as biomarkers of oxidative stress. J Mass Spectrom (2005) 0.87
Differential dephosphorylation of the FcRgamma immunoreceptor tyrosine-based activation motif tyrosines with dissimilar potential for activating Syk. J Biol Chem (2008) 0.87
Serpinin: a novel chromogranin A-derived, secreted peptide up-regulates protease nexin-1 expression and granule biogenesis in endocrine cells. Mol Endocrinol (2011) 0.86
Identification of phosphoserine and phosphothreonine as cysteic acid and beta-methylcysteic acid residues in peptides by tandem mass spectrometric sequencing. Anal Chem (2002) 0.85
Pituitary adenoma with paraganglioma/pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and mice. J Clin Endocrinol Metab (2015) 0.85
Miglustat treatment may reduce cerebrospinal fluid levels of the axonal degeneration marker tau in niemann-pick type C. JIMD Rep (2011) 0.84
Proteomic analysis of SARS associated coronavirus using two-dimensional liquid chromatography mass spectrometry and one-dimensional sodium dodecyl sulfate-polyacrylamide gel electrophoresis followed by mass spectroemtric analysis. J Proteome Res (2004) 0.84
Inhibition of HMG CoA reductase reveals an unexpected role for cholesterol during PGC migration in the mouse. BMC Dev Biol (2008) 0.84
Mass spectrometry after capture and small-volume elution of analyte from a surface plasmon resonance biosensor. Anal Chem (2002) 0.83
Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann-Pick disease, type C1. Hum Mol Genet (2013) 0.83
Use of cumulative distribution functions to characterize mass spectra of intact proteins. J Am Soc Mass Spectrom (2002) 0.82
Expression of human E46K-mutated α-synuclein in BAC-transgenic rats replicates early-stage Parkinson's disease features and enhances vulnerability to mitochondrial impairment. Exp Neurol (2012) 0.82
Increasing cholesterol synthesis in 7-dehydrosterol reductase (DHCR7) deficient mouse models through gene transfer. J Steroid Biochem Mol Biol (2010) 0.82
Defining natural history: assessment of the ability of college students to aid in characterizing clinical progression of Niemann-Pick disease, type C. PLoS One (2011) 0.82