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MOLECULAR PSYCHIATRY (2017)
Orthogonal lipid sensors identify transbilayer asymmetry of plasma membrane cholesterol
Shu-Lin Liu et al.
NATURE CHEMICAL BIOLOGY (2017)
Triazoles inhibit cholesterol export from lysosomes by binding to NPC1
Michael N. Trinh et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2017)
FTY720/fingolimod increases NPC1 and NPC2 expression and reduces cholesterol and sphingolipid accumulation in Niemann-Pick type C mutant fibroblasts
Jason Newton et al.
FASEB JOURNAL (2017)
Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency
Margaret M. McGovern et al.
GENETICS IN MEDICINE (2017)
Shortened primary cilium length and dysregulated Sonic hedgehog signaling in Niemann-Pick C1 disease
Sonia Canterini et al.
HUMAN MOLECULAR GENETICS (2017)
AAV9-NPC1 significantly ameliorates Purkinje cell death and behavioral abnormalities in mouse NPC disease
Chang Xie et al.
JOURNAL OF LIPID RESEARCH (2017)
Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience
Barbara K. Burton et al.
JOURNAL OF PEDIATRICS (2017)
Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial
Daniel S. Ory et al.
LANCET (2017)
Niemann-Pick disease, type C and Roscoe Brady
Marc C. Patterson et al.
MOLECULAR GENETICS AND METABOLISM (2017)
Types A and B Niemann-Pick disease
Edward H. Schuchman et al.
MOLECULAR GENETICS AND METABOLISM (2017)
The role of epigenetics in lysosomal storage disorders: Uncharted territory
Shahzeb Hassan et al.
MOLECULAR GENETICS AND METABOLISM (2017)
Enhanced Delivery and Effects of Acid Sphingomyelinase by ICAM-1-Targeted Nanocarriers in Type B Niemann-Pick Disease Mice
Carmen Garnacho et al.
MOLECULAR THERAPY (2017)
Evolution of structural neuroimaging biomarkers in a series of adult patients with Niemann-Pick type C under treatment
Marion Masingue et al.
ORPHANET JOURNAL OF RARE DISEASES (2017)
3.3 Å structure of Niemann-Pick C1 protein reveals insights into the function of the C-terminal luminal domain in cholesterol transport
Xiaochun Li et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2017)
Trifunctional lipid probes for comprehensive studies of single lipid species in living cells
Doris Hoeglinger et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2017)
CHOLESTEROL SENSING Lysosomal cholesterol activates mTORC1 via an SLC38A9-Niemann-Pick C1 signaling complex
Brian M. Castellano et al.
SCIENCE (2017)
Generation of patient specific human neural stem cells from Niemann-Pick disease type C patient-derived fibroblasts
Eun-Ah Sung et al.
ONCOTARGET (2017)
Acid Sphingomyelinase Inhibition Prevents Development of Sepsis Sequelae in the Murine Liver
Ha-Yeun Chung et al.
SCIENTIFIC REPORTS (2017)
A novel approach to analyze lysosomal dysfunctions through subcellular proteomics and lipidomics: the case of NPC1 deficiency
Arun Kumar Tharkeshwar et al.
SCIENTIFIC REPORTS (2017)
Oxysterol-Binding Protein-Related Protein 1L Regulates Cholesterol Egress from the Endo-Lysosomal System
Kexin Zhao et al.
CELL REPORTS (2017)
Mitochondrial GSH replenishment as a potential therapeutic approach for Niemann Pick type C disease
Sandra Torres et al.
REDOX BIOLOGY (2017)
New murine Niemann-Pick type C models bearing a pseudoexongenerating mutation recapitulate the main neurobehavioural and molecular features of the disease
Marta Gomez-Grau et al.
SCIENTIFIC REPORTS (2017)
Recommendations for the detection and diagnosis of Niemann-Pick disease type C An update
Marc C. Patterson et al.
NEUROLOGY-CLINICAL PRACTICE (2017)
A Carbon Nanotube Optical Reporter Maps Endolysosomal Lipid Flux
Prakrit V. Jena et al.
ACS NANO (2017)
STARD3 mediates endoplasmic reticulum-to-endosome cholesterol transport at membrane contact sites
Lea P. Wilhelm et al.
EMBO JOURNAL (2017)
Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B
Mariana Acuna et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2016)
High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets
Christopher A. Wassif et al.
GENETICS IN MEDICINE (2016)
Novel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann-Pick disease type B (acid sphingomyelinase deficiency)
Margaret M. McGovern et al.
GENETICS IN MEDICINE (2016)
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants
Stefania Zampieri et al.
HUMAN MUTATION (2016)
Clearance of Hepatic Sphingomyelin by Olipudase Alfa Is Associated With Improvement in Lipid Profiles in Acid Sphingomyelinase Deficiency
Beth L. Thurberg et al.
AMERICAN JOURNAL OF SURGICAL PATHOLOGY (2016)
Plant transcriptomes reveal hidden guests
Jiao Zhu et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2016)
A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)
Mercedes Pineda et al.
BMC PEDIATRICS (2016)
Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection
Xin Gong et al.
CELL (2016)
Ebola Viral Glycoprotein Bound to Its Endosomal Receptor Niemann-Pick C1
Han Wang et al.
CELL (2016)
Cholesterol interactions with ceramide and sphingomyelin
Aritz B. Garcia-Arribas et al.
CHEMISTRY AND PHYSICS OF LIPIDS (2016)
Cholesterol oxidation products and their biological importance
Waldemar Kulig et al.
CHEMISTRY AND PHYSICS OF LIPIDS (2016)
A Drosophila Genome-Wide Screen Identifies Regulators of Steroid Hormone Production and Developmental Timing
E. Thomas Danielsen et al.
DEVELOPMENTAL CELL (2016)
Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease
Francesca Mazzacuva et al.
FEBS LETTERS (2016)
Genetics of Lipid-Storage Management in Caenorhabditis elegans Embryos
Verena Schmoekel et al.
GENETICS (2016)
Establishing the precise evolutionary history of a gene improves prediction of disease-causing missense mutations
Ogun Adebali et al.
GENETICS IN MEDICINE (2016)
Cathepsin S Contributes to Microglia-Mediated Olfactory Dysfunction Through the Regulation of Cx3cl1-Cx3cr1 Axis in a Niemann-Pick Disease Type C1 Model
Yoojin Seo et al.
GLIA (2016)
Genetic and pharmacological evidence implicates cathepsins in Niemann-Pick C cerebellar degeneration
Chan Chung et al.
HUMAN MOLECULAR GENETICS (2016)
Proteomic analysis of castor bean tick Ixodes ricinus: a focus on chemosensory organs
Immacolata Iovinella et al.
INSECT BIOCHEMISTRY AND MOLECULAR BIOLOGY (2016)
Structure of Human Acid Sphingomyelinase Reveals the Role of the Saposin Domain in Activating Substrate Hydrolysis
Zi-Jian Xiong et al.
JOURNAL OF MOLECULAR BIOLOGY (2016)
Identifying Niemann-Pick type C in early-onset ataxia: two quick clinical screening tools
Matthis Synofzik et al.
JOURNAL OF NEUROLOGY (2016)
Reversal of Pathologic Lipid Accumulation in NPC1-Deficient Neurons by Drug-Promoted Release of LAMP1-Coated Lamellar Inclusions
Valerie Demais et al.
JOURNAL OF NEUROSCIENCE (2016)
Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review
Marie T. Vanier et al.
MOLECULAR GENETICS AND METABOLISM (2016)
Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry
Susan Elliott et al.
MOLECULAR GENETICS AND METABOLISM (2016)
Cholesterol-dependent increases in glucosylceramide synthase activity in Niemann-Pick disease type C model cells: Abnormal trafficking of endogenously formed ceramide metabolites by inhibition of the enzyme
Naohiro Hashimoto et al.
NEUROPHARMACOLOGY (2016)
Defective Cytochrome P450-Catalysed Drug Metabolism in Niemann-Pick Type C Disease
Elena-Raluca Nicoli et al.
PLOS ONE (2016)
Structure of human Niemann-Pick C1 protein
Xiaochun Li et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2016)
Clues to the mechanism of cholesterol transfer from the structure of NPC1 middle lumenal domain bound to NPC2
Xiaochun Li et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2016)
Recent progress on lipid lateral heterogeneity in plasma membranes: From rafts to submicrometric domains
Melanie Carquin et al.
PROGRESS IN LIPID RESEARCH (2016)
A Trojan horse bispecific-antibody strategy for broad protection against ebolaviruses
Anna Z. Wec et al.
SCIENCE (2016)
Development of a bile acid-based newborn screen for Niemann-Pick disease type C
Xuntian Jiang et al.
SCIENCE TRANSLATIONAL MEDICINE (2016)
Heat shock protein-based therapy as a potential candidate for treating the sphingolipidoses
Thomas Kirkegaard et al.
SCIENCE TRANSLATIONAL MEDICINE (2016)
Necroptosis in Niemann-Pick disease, type C1: a potential therapeutic target
A. Cougnoux et al.
CELL DEATH & DISEASE (2016)
Heat Shock Protein Beta-1 Modifies Anterior to Posterior Purkinje Cell Vulnerability in a Mouse Model of Niemann-Pick Type C Disease
Chan Chung et al.
PLOS GENETICS (2016)
EhNPC1 and EhNPC2 Proteins Participate in Trafficking of Exogenous Cholesterol in Entamoeba histolytica Trophozoites: Relevance for Phagocytosis
Jeni Bolanos et al.
PLOS PATHOGENS (2016)
Induced Pluripotent Stem Cells for Disease Modeling and Evaluation of Therapeutics for Niemann-Pick Disease Type A
Yan Long et al.
STEM CELLS TRANSLATIONAL MEDICINE (2016)
Perfringolysin O Theta Toxin as a Tool to Monitor the Distribution and Inhomogeneity of Cholesterol in Cellular Membranes
Masashi Maekawa et al.
TOXINS (2016)
Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening
Janine Reunert et al.
EBIOMEDICINE (2016)
Structural exploration of acid sphingomyelinase at different physiological pH through molecular dynamics and docking studies
Yellamandayya Vadlamudi et al.
RSC ADVANCES (2016)
Cerebrospinal Fluid Calbindin D Concentration as a Biomarker of Cerebellar Disease Progression in Niemann-Pick Type C1 Disease
Allison Bradbury et al.
JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS (2016)
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway
Giuseppina Di Fruscio et al.
AUTOPHAGY (2015)
Acid sphingomyelinase (aSMase) deficiency leads to abnormal microglia behavior and disturbed retinal function
Katharina Dannhausen et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2015)
Age and prior blood feeding of Anopheles gambiae influences their susceptibility and gene expression patterns to ivermectin-containing blood meals
Jonathan A. Seaman et al.
BMC GENOMICS (2015)
Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database
Jackie Imrie et al.
BMC NEUROLOGY (2015)
BK Channels Alleviate Lysosomal Storage Diseases by Providing Positive Feedback Regulation of Lysosomal Ca2+ Release
Qi Cao et al.
DEVELOPMENTAL CELL (2015)
Visualization of the heterogeneous membrane distribution of sphingomyelin associated with cytokinesis, cell polarity, and sphingolipidosis
Asami Makino et al.
FASEB JOURNAL (2015)
A dural lymphatic vascular system that drains brain interstitial fluid and macromolecules
Aleksanteri Aspelund et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2015)
NPC1 is enriched in unexplained early onset ataxia: a targeted high-throughput screening
Matthis Synofzik et al.
JOURNAL OF NEUROLOGY (2015)
A Murine Niemann-Pick C1 I1061T Knock-In Model Recapitulates the Pathological Features of the Most Prevalent Human Disease Allele
Maria Praggastis et al.
JOURNAL OF NEUROSCIENCE (2015)
Nonclinical safety assessment of recombinant human acid sphingomyelinase (rhASM) for the treatment of acid sphingomyelinase deficiency: The utility of animal models of disease in the toxicological evaluation of potential therapeutics
James M. Murray et al.
MOLECULAR GENETICS AND METABOLISM (2015)
Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency
Melissa P. Wasserstein et al.
MOLECULAR GENETICS AND METABOLISM (2015)
Structural and functional features of central nervous system lymphatic vessels
Antoine Louveau et al.
NATURE (2015)
Improvement of biochemical and behavioral defects in the Niemann-Pick type A mouse by intraventricular infusion of MARCKS
Laura Trovo et al.
NEUROBIOLOGY OF DISEASE (2015)
Acetyl-DL-leucine in Niemann-Pick type C A case series
Tatiana Bremova et al.
NEUROLOGY (2015)
Visual evoked potentials of Niemann-Pick type C1 mice reveal an impairment of the visual pathway that is rescued by 2-hydroxypropyl-β-cyclodextrin
Giampiero Palladino et al.
ORPHANET JOURNAL OF RARE DISEASES (2015)
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C
Simona Fecarotta et al.
ORPHANET JOURNAL OF RARE DISEASES (2015)
A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease
Anne-Katrin Giese et al.
ORPHANET JOURNAL OF RARE DISEASES (2015)
Misexpression of the Niemann-Pick disease type C1 (NPC1)-like protein in Arabidopsis causes sphingolipid accumulation and reproductive defects
Maximilian J. Feldman et al.
PLANTA (2015)
Small-molecule enhancers of autophagy modulate cellular disease phenotypes suggested by human genetics
Szu-Yu Kuoa et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)
Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease
Charles H. Vite et al.
SCIENCE TRANSLATIONAL MEDICINE (2015)
Rescue of an In Vitro Neuron Phenotype Identified in Niemann-Pick Disease, Type C1 Induced Pluripotent Stem Cell-Derived Neurons by Modulating the WNT Pathway and Calcium Signaling
Anastasia G. Efthymiou et al.
STEM CELLS TRANSLATIONAL MEDICINE (2015)
Clinical impact and cost-effectiveness of whole exome sequencing as a diagnostic tool: a pediatric center's experience
C. Alexander Valencia et al.
FRONTIERS IN PEDIATRICS (2015)
SNPlice: variants that modulate Intron retention from RNA-sequencing data
Prakriti Mudvari et al.
BIOINFORMATICS (2015)
Phenotypic heterogeneity of Niemann-Pick disease type C in monozygotic twins
Alberto Benussi et al.
JOURNAL OF NEUROLOGY (2015)
Reducing GBA2 Activity Ameliorates Neuropathology in Niemann-Pick Type C Mice
Andre R. A. Marques et al.
PLOS ONE (2015)
Acid Sphingomyelinase Regulates Platelet Cell Membrane Scrambling, Secretion, and Thrombus Formation
Patrick Muenzer et al.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY (2014)
Niemann-Pick Type C Disease: A QM/MM Study of Conformational Changes in Cholesterol in the NPC1(NTD) and NPC2 Binding Pockets
Nadia Elghobashi-Meinhardt
BIOCHEMISTRY (2014)
Excessive microglial activation aggravates olfactory dysfunction by impeding the survival of newborn neurons in the olfactory bulb of Niemann-Pick disease type C1 mice
Yoojin Sea et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2014)
Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1
Anneliese O. Speak et al.
BLOOD (2014)
Defects in the retina of Niemann-pick type C 1 mutant mice
Xin Yan et al.
BMC NEUROSCIENCE (2014)
High sphingomyelin levels induce lysosomal damage and autophagy dysfunction in Niemann Pick disease type A
E. Gabande-Rodriguez et al.
CELL DEATH AND DIFFERENTIATION (2014)
Aedes aegypti ML and Niemann-Pick type C family members are agonists of dengue virus infection
Natapong Jupatanakul et al.
DEVELOPMENTAL AND COMPARATIVE IMMUNOLOGY (2014)
Pharmacological reversion of sphingomyelin-induced dendritic spine anomalies in a Niemann Pick disease type A mouse model
Ana I. Arroyo et al.
EMBO MOLECULAR MEDICINE (2014)
Hyperactive glial cells contribute to axonal pathologies in the spinal cord of Npc1 mutant mice
Xin Yan et al.
GLIA (2014)
Cholesterol homeostatic responses provide biomarkers for monitoring treatment for the neurodegenerative disease Niemann-Pick C1 (NPC1)
Brett Tortelli et al.
HUMAN MOLECULAR GENETICS (2014)
Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker
Danielle te Vruchte et al.
JOURNAL OF CLINICAL INVESTIGATION (2014)
Acid sphingomyelinase modulates the autophagic process by controlling lysosomal biogenesis in Alzheimer's disease
Jong Kil Lee et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2014)
Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1
Stephanie M. Cologna et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2014)
A novel alkyne cholesterol to trace cellular cholesterol metabolism and localization
Kristina Hofmann et al.
JOURNAL OF LIPID RESEARCH (2014)
Determination of 7-ketocholesterol in plasma by LC-MS for rapid diagnosis of acid SMase-deficient Niemann-Pick disease
Na Lin et al.
JOURNAL OF LIPID RESEARCH (2014)
Acid sphingomyelinase activity is regulated by membrane lipids and facilitates cholesterol transfer by NPC2
Vincent O. Oninla et al.
JOURNAL OF LIPID RESEARCH (2014)
Control of autophagy maturation by acid sphingomyelinase in mouse coronary arterial smooth muscle cells: protective role in atherosclerosis
Xiang Li et al.
JOURNAL OF MOLECULAR MEDICINE-JMM (2014)
Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C disease
Mathieu Anheim et al.
JOURNAL OF NEUROLOGY (2014)
Donepezil Enhances Purkinje Cell Survival and Alleviates Motor Dysfunction by Inhibiting Cholesterol Synthesis in a Murine Model of Niemann Pick Disease Type C
Yoojin Seo et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2014)
Relevance of neuronal and glial NPC1 for synaptic input to cerebellar Purkinje cells
Isabelle Buard et al.
MOLECULAR AND CELLULAR NEUROSCIENCE (2014)
Lyso-sphingomyelin is elevated in dried blood spots of Niemann-Pick B patients
Wei-Lien Chuang et al.
MOLECULAR GENETICS AND METABOLISM (2014)
Clathrin-Mediated Endocytosis Is Impaired in Type A-B Niemann-Pick Disease Model Cells and Can Be Restored by ICAM-1-Mediated Enzyme Replacement
Jeff Rappaport et al.
MOLECULAR PHARMACEUTICS (2014)
Inhibition of GM3 Synthase Attenuates Neuropathology of Niemann-Pick Disease Type C by Affecting Sphingolipid Metabolism
Hyun Lee et al.
MOLECULES AND CELLS (2014)
Improved neuroprotection using miglustat, curcumin and ibuprofen as a triple combination therapy in Niemann-Pick disease type C1 mice
Ian M. Williams et al.
NEUROBIOLOGY OF DISEASE (2014)
A marked paucity of granule cells in the developing cerebellum of the Npc1-/- mouse is corrected by a single injection of hydroxypropyl-β-cyclodextrin
S. Nusca et al.
NEUROBIOLOGY OF DISEASE (2014)
Factors and processes modulating phenotypes in neuronopathic lysosomal storage diseases
Joanna Jakobkiewicz-Banecka et al.
METABOLIC BRAIN DISEASE (2014)
Hepatic metabolic response to restricted copper intake in a Niemann-Pick C murine model
Graciela Argueello et al.
METALLOMICS (2014)
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders
Ana Fernandez-Marmiesse et al.
ORPHANET JOURNAL OF RARE DISEASES (2014)
Niemann-Pick type C2 protein mediating chemical communication in the worker ant
Yuko Ishida et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
Spermatozoa from mice deficient in Niemann-Pick disease type C2 (NPC2) protein have defective cholesterol content and reduced in vitro fertilising ability
Dolores Busso et al.
REPRODUCTION FERTILITY AND DEVELOPMENT (2014)
Pathological roles of the VEGF/SphK pathway in Niemann-Pick type C neurons
Hyun Lee et al.
NATURE COMMUNICATIONS (2014)
Vitamin E Dietary Supplementation Improves Neurological Symptoms and Decreases c-Abl/p73 Activation in Niemann-Pick C Mice
Tamara Marin et al.
NUTRIENTS (2014)
Genetic and Chemical Correction of Cholesterol Accumulation and Impaired Autophagy in Hepatic and Neural Cells Derived from Niemann-Pick Type C Patient-Specific iPS Cells
Dorothea Maetzel et al.
STEM CELL REPORTS (2014)
Niemann-Pick Disease Type C: Induced Pluripotent Stem Cell-Derived Neuronal Cells for Modeling Neural Disease and Evaluating Drug Efficacy
Daozhan Yu et al.
JOURNAL OF BIOMOLECULAR SCREENING (2014)
A Phenotypic Compound Screening Assay for Lysosomal Storage Diseases
Miao Xu et al.
JOURNAL OF BIOMOLECULAR SCREENING (2014)
Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations
Ephrem L. H. Chin et al.
BMC GENETICS (2013)
The C57BL/6J Niemann-Pick C1 mouse model with decreased gene dosage has impaired glucose tolerance independent of body weight
David Jelinek et al.
GENE (2013)
Morbidity and mortality in type B Niemann-Pick disease
Margaret M. McGovern et al.
GENETICS IN MEDICINE (2013)
Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of NiemannPick disease, type C1
Rao Fu et al.
HUMAN MOLECULAR GENETICS (2013)
β-Glucosidase 2 (GBA2) Activity and Imino Sugar Pharmacology
Christina M. Ridley et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2013)
Sphingomyelin Lipidosis (Niemann-Pick Disease) in a Juvenile Raccoon (Procyon lotor)
N. Vapniarsky et al.
JOURNAL OF COMPARATIVE PATHOLOGY (2013)
Probing lipid-protein adduction with alkynyl surrogates: application to Smith-Lemli-Opitz syndrome
Katherine Windsor et al.
JOURNAL OF LIPID RESEARCH (2013)
Cholesterol-binding molecules MLN64 and ORP1L mark distinct late endosomes with transporters ABCA3 and NPC1
Rik van der Kant et al.
JOURNAL OF LIPID RESEARCH (2013)
Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling
Martin Fan et al.
JOURNAL OF LIPID RESEARCH (2013)
Electrodiagnostic Testing and Histopathologic Changes Confirm Peripheral Nervous System Myelin Abnormalities in the Feline Model of Niemann-Pick Disease Type C
Jessica H. Bagel et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2013)
Identification of mutation in NPC2 by exome sequencing results in diagnosis of Niemann-Pick disease type C
Afagh Alavi et al.
MOLECULAR GENETICS AND METABOLISM (2013)
A somatic cell defect is associated with the onset of neurological symptoms in a lysosomal storage disease
Jorge L. Rodriguez-Gil et al.
MOLECULAR GENETICS AND METABOLISM (2013)
Acid sphingomyelinase-ceramide system mediates effects of antidepressant drugs
Erich Gulbins et al.
NATURE MEDICINE (2013)
A rare lysosomal enzyme gene SMPD1 variant (p.R591C) associates with Parkinson's disease
Jia-Nee Foo et al.
NEUROBIOLOGY OF AGING (2013)
The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease
Ziv Gan-Or et al.
NEUROLOGY (2013)
A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient's skin
Natascha Bergamin et al.
ORPHANET JOURNAL OF RARE DISEASES (2013)
Niemann-Pick type C1 patient-specific induced pluripotent stem cells display disease specific hallmarks
Michaela Trilck et al.
ORPHANET JOURNAL OF RARE DISEASES (2013)
Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators
Miriam Stampfer et al.
ORPHANET JOURNAL OF RARE DISEASES (2013)
Disease and patient characteristics in NP-C patients: findings from an international disease registry
Marc C. Patterson et al.
ORPHANET JOURNAL OF RARE DISEASES (2013)
Pulmonary Abnormalities in Animal Models Due to Niemann-Pick Type C1 (NPC1) or C2 (NPC2) Disease
Blair R. Roszell et al.
PLOS ONE (2013)
Pre-Symptomatic Activation of Antioxidant Responses and Alterations in Glucose and Pyruvate Metabolism in Niemann-Pick Type C1-Deficient Murine Brain
Barry E. Kennedy et al.
PLOS ONE (2013)
Impaired Autophagy in the Lipid-Storage Disorder Niemann-Pick Type C1 Disease
Sovan Sarkar et al.
CELL REPORTS (2013)
Npc1 Acting in Neurons and Glia Is Essential for the Formation and Maintenance of CNS Myelin
Ting Yu et al.
PLOS GENETICS (2013)
Apolipoprotein E genotype and neurological disease onset in Niemann-Pick disease, type C1
Rao Fu et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
Liver and Skin Histopathology in Adults With Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Type B)
Beth L. Thurberg et al.
AMERICAN JOURNAL OF SURGICAL PATHOLOGY (2012)
A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations
Robert A. Maue et al.
HUMAN MOLECULAR GENETICS (2012)
Disruption and therapeutic rescue of autophagy in a human neuronal model of Niemann Pick type C1
M. Paulina Ordonez et al.
HUMAN MOLECULAR GENETICS (2012)
Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1
Celine V. M. Cluzeau et al.
HUMAN MOLECULAR GENETICS (2012)
Impaired proteolysis underlies autophagic dysfunction in Niemann-Pick type C disease
Matthew J. Elrick et al.
HUMAN MOLECULAR GENETICS (2012)
Drosophila melanogaster NPC2 proteins bind bacterial cell wall components and may function in immune signal pathways
Xiu-Zhen Shi et al.
INSECT BIOCHEMISTRY AND MOLECULAR BIOLOGY (2012)
Cathepsin B Overexpression Due to Acid Sphingomyelinase Ablation Promotes Liver Fibrosis in Niemann-Pick Disease
Anna Moles et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2012)
δ-Tocopherol Reduces Lipid Accumulation in Niemann-Pick Type C1 and Wolman Cholesterol Storage Disorders
Miao Xu et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2012)
Optimization of a Histopathological Biomarker for Sphingomyelin Accumulation in Acid Sphingomyelinase Deficiency
Tatyana V. Taksir et al.
JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY (2012)
In vivo assessment of neurodegeneration in niemann-pick type C mice by quantitative T2 mapping and diffusion tensor imaging
John W. Totenhagen et al.
JOURNAL OF MAGNETIC RESONANCE IMAGING (2012)
Miglustat Improves Purkinje Cell Survival and Alters Microglial Phenotype in Feline Niemann-Pick Disease Type C
Veronika M. Stein et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2012)
Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria
Thomas P. Mechtler et al.
LANCET (2012)
Iminosugar-based inhibitors of glucosylceramide synthase prolong survival but paradoxically increase brain glucosylceramide levels in Niemann-Pick C mice
Jennifer B. Nietupski et al.
MOLECULAR GENETICS AND METABOLISM (2012)
Merits of Combination Cortical, Subcortical, and Cerebellar Injections for the Treatment of Niemann-Pick Disease Type A
Jie Bu et al.
MOLECULAR THERAPY (2012)
Development of a Suspicion Index to aid diagnosis of Niemann-Pick disease type C
F. A. Wijburg et al.
NEUROLOGY (2012)
Amyloid-β metabolism in Niemann-Pick C disease models and patients
Niklas Mattsson et al.
METABOLIC BRAIN DISEASE (2012)
Quantitative Proteomic Analysis of Niemann-Pick Disease, Type C1 Cerebellum Identifies Protein Biomarkers and Provides Pathological Insight
Stephanie M. Cologna et al.
PLOS ONE (2012)
Lack of efficacy of curcumin on neurodegeneration in the mouse model of Niemann-Pick C1
Ivan A. Borbon et al.
PHARMACOLOGY BIOCHEMISTRY AND BEHAVIOR (2012)
Lipid storage disorders block lysosomal trafficking by inhibiting a TRP channel and lysosomal calcium release
Dongbiao Shen et al.
NATURE COMMUNICATIONS (2012)
Evaluation of Cholesterol Reduction Activity of Methyl-β-cyclodextrin Using Differentiated Human Neurons and Astrocytes
Manju Swaroop et al.
JOURNAL OF BIOMOLECULAR SCREENING (2012)
Npc1 deficiency in the C57BL/6J genetic background enhances Niemann-Pick disease type C spleen pathology
Julio Parra et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2011)
Niemann-Pick Type C1 deficiency in microglia does not cause neuron death in vitro
Kyle B. Peake et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2011)
Simplified Newborn Screening Protocol for Lysosomal Storage Disorders
Thomas F. Metz et al.
CLINICAL CHEMISTRY (2011)
Caspase-8 and caspase-7 sequentially mediate proteolytic activation of acid sphingomyelinase in TNF-R1 receptosomes
Baerbel Edelmann et al.
EMBO JOURNAL (2011)
Npc1 is involved in sterol trafficking in the filamentous fungus Fusarium graminearum
Andrew Breakspear et al.
FUNGAL GENETICS AND BIOLOGY (2011)
Decreased Purinergic Inhibition of Synaptic Activity in a Mouse Model of Niemann-Pick Disease Type C
Su-ya Zhou et al.
HIPPOCAMPUS (2011)
Temporal and cell-specific deletion establishes that neuronal Npc1 deficiency is sufficient to mediate neurodegeneration
Ting Yu et al.
HUMAN MOLECULAR GENETICS (2011)
A Novel Mechanism of Lysosomal Acid Sphingomyelinase Maturation REQUIREMENT FOR CARBOXYL-TERMINAL PROTEOLYTIC PROCESSING
Russell W. Jenkins et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2011)
An Exacerbate-reverse Strategy in Yeast Identifies Histone Deacetylase Inhibition as a Correction for Cholesterol and Sphingolipid Transport Defects in Human Niemann-Pick Type C Disease
Andrew B. Munkacsi et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2011)
A role for oxysterol-binding protein-related protein 5 in endosomal cholesterol trafficking
Ximing Du et al.
JOURNAL OF CELL BIOLOGY (2011)
Role for LAMP-2 in endosomal cholesterol transport
Alexander Schneede et al.
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE (2011)
A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma
Xuntian Jiang et al.
JOURNAL OF LIPID RESEARCH (2011)
Requirement of Npc1 and availability of cholesterol for early embryonic cell movements in zebrafish
Tyler Schwend et al.
JOURNAL OF LIPID RESEARCH (2011)
Unesterified Cholesterol Accumulation in Late Endosomes/Lysosomes Causes Neurodegeneration and Is Prevented by Driving Cholesterol Export from This Compartment
Amal Aqul et al.
JOURNAL OF NEUROSCIENCE (2011)
Small molecule inhibitors reveal Niemann-Pick C1 is essential for Ebola virus infection
Marceline Cote et al.
NATURE (2011)
Ebola virus entry requires the cholesterol transporter Niemann-Pick C1
Jan E. Carette et al.
NATURE (2011)
Oxidative stress activates the c-Abl/p73 proapoptotic pathway in Niemann-Pick type C neurons
Andres Klein et al.
NEUROBIOLOGY OF DISEASE (2011)
Loss of amyloid precursor protein in a mouse model of Niemann-Pick type C disease exacerbates its phenotype and disrupts tau homeostasis
Ana Nunes et al.
NEUROBIOLOGY OF DISEASE (2011)
Decreased expression of myelin gene regulatory factor in Niemann-Pick type C 1 mouse
Xin Yan et al.
METABOLIC BRAIN DISEASE (2011)
Protein Replacement Therapy Partially Corrects the Cholesterol-Storage Phenotype in a Mouse Model of Niemann-Pick Type C2 Disease
Gitte Krogh Nielsen et al.
PLOS ONE (2011)
Histone deacetylase inhibitor treatment dramatically reduces cholesterol accumulation in Niemann-Pick type C1 mutant human fibroblasts
Nina H. Pipalia et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
Amino acid substitution in NPC1 that abolishes cholesterol binding reproduces phenotype of complete NPC1 deficiency in mice
Xuefen Xie et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
Niemann-Pick type C 1 function requires lumenal domain residues that mediate cholesterol-dependent NPC2 binding
Maika S. Deffieu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
Acidic Sphingomyelinase Controls Hepatic Stellate Cell Activation and in Vivo Liver Fibrogenesis
Anna Moles et al.
AMERICAN JOURNAL OF PATHOLOGY (2010)
Adipose tissue-derived stem cells rescue Purkinje neurons and alleviate inflammatory responses in Niemann-Pick disease type C mice
Jae-sung Bae et al.
CELL AND TISSUE RESEARCH (2010)
Identification of Surface Residues on Niemann-Pick C2 Essential for Hydrophobic Handoff of Cholesterol to NPC1 in Lysosomes
Michael L. Wang et al.
CELL METABOLISM (2010)
Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification: A collaborative study on 70 patients
Marie T. Vanier et al.
CLINICAL GENETICS (2010)
Altered Levels and Distribution of Amyloid Precursor Protein and Its Processing Enzymes in Niemann-Pick Type C1-Deficient Mouse Brains
A. Kodam et al.
GLIA (2010)
Conditional Niemann-Pick C mice demonstrate cell autonomous Purkinje cell neurodegeneration
Matthew J. Elrick et al.
HUMAN MOLECULAR GENETICS (2010)
Regulated Secretion of Acid Sphingomyelinase IMPLICATIONS FOR SELECTIVITY OF CERAMIDE FORMATION
Russell W. Jenkins et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2010)
Exosome Secretion Ameliorates Lysosomal Storage of Cholesterol in Niemann-Pick Type C Disease
Katrin Strauss et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2010)
Somatic Cell Plasticity and Niemann-Pick Type C2 Protein ADIPOCYTE DIFFERENTIATION AND FUNCTION
Chad Csepeggi et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2010)
Exocytosis of acid sphingomyelinase by wounded cells promotes endocytosis and plasma membrane repair
Christina Tam et al.
JOURNAL OF CELL BIOLOGY (2010)
Long-Term Miglustat Therapy in Children With Niemann-Pick Disease Type C
Marc C. Patterson et al.
JOURNAL OF CHILD NEUROLOGY (2010)
The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes
William S. Garver et al.
JOURNAL OF LIPID RESEARCH (2010)
MLN64 mediates egress of cholesterol from endosomes to mitochondria in the absence of functional Niemann-Pick Type C1 protein
Mark Charman et al.
JOURNAL OF LIPID RESEARCH (2010)
Role of endosomal membrane lipids and NPC2 in cholesterol transfer and membrane fusion
Misbaudeen Abdul-Hammed et al.
JOURNAL OF LIPID RESEARCH (2010)
Human Umbilical Cord Blood-Derived Mesenchymal Stem Cells Improve Neurological Abnormalities of Niemann-Pick Type C Mouse by Modulation of Neuroinflammatory Condition
Hyun Lee et al.
JOURNAL OF VETERINARY MEDICAL SCIENCE (2010)
Female infertility due to anovulation and defective steroidogenesis in NPC2 deficient mice
D. Busso et al.
MOLECULAR AND CELLULAR ENDOCRINOLOGY (2010)
Lack of Niemann-Pick type C1 induces age-related degeneration in the mouse retina
Thomas Claudepierre et al.
MOLECULAR AND CELLULAR NEUROSCIENCE (2010)
Miglustat in adult and juvenile patients with Niemann Pick disease type C: Long-term data from a clinical trial
James E. Wraith et al.
MOLECULAR GENETICS AND METABOLISM (2010)
Hsp70 stabilizes lysosomes and reverts Niemann-Pick disease-associated lysosomal pathology
Thomas Kirkegaard et al.
NATURE (2010)
DEFECTS OF SYNAPTIC VESICLE TURNOVER AT EXCITATORY AND INHIBITORY SYNAPSES IN NIEMANN-PICK C1-DEFICIENT NEURONS
S. Xu et al.
NEUROSCIENCE (2010)
Decreased Npc1 Gene Dosage in Mice Is Associated With Weight Gain
David Jelinek et al.
OBESITY (2010)
Niemann-Pick disease type C
Marie T. Vanier
ORPHANET JOURNAL OF RARE DISEASES (2010)
Cyclodextrin Induces Calcium-Dependent Lysosomal Exocytosis
Fannie W. Chen et al.
PLOS ONE (2010)
Weekly Cyclodextrin Administration Normalizes Cholesterol Metabolism in Nearly Every Organ of the Niemann-Pick Type C1 Mouse and Markedly Prolongs Life
Charina M. Ramirez et al.
PEDIATRIC RESEARCH (2010)
Cholesterol trafficking is required for mTOR activation in endothelial cells
Jing Xu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Endocytosis of beta-cyclodextrins is responsible for cholesterol reduction in Niemann-Pick type C mutant cells
Anton I. Rosenbaum et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Acid sphingomyelinase possesses a domain homologous to its activator proteins: Saposins B and D
Christopher P. Ponting
PROTEIN SCIENCE (2010)
Cholesterol Oxidation Products Are Sensitive and Specific Blood-Based Biomarkers for Niemann-Pick C1 Disease
Forbes D. Porter et al.
SCIENCE TRANSLATIONAL MEDICINE (2010)
Selective Visualization of Fluorescent Sterols in Caenorhabditis elegans by Bleach-Rate-Based Image Segmentation
Daniel Wustner et al.
TRAFFIC (2010)
Improvement in Lipid and Protein Trafficking in Niemann-Pick C1 Cells by Correction of a Secondary Enzyme Defect
Cecilia Devlin et al.
TRAFFIC (2010)
Increased Activity and Altered Subcellular Distribution of Lysosomal Enzymes Determine Neuronal Vulnerability in Niemann-Pick Type C1-Deficient Mice
Asha Amritraj et al.
AMERICAN JOURNAL OF PATHOLOGY (2009)
Structure of N-Terminal Domain of NPC1 Reveals Distinct Subdomains for Binding and Transfer of Cholesterol
Hyock Joo Kwon et al.
CELL (2009)
Identification of Cholesterol-Regulating Genes by Targeted RNAi Screening
Fabian Bartz et al.
CELL METABOLISM (2009)
Free Cholesterol Accumulation in Macrophage Membranes Activates Toll-Like Receptors and p38 Mitogen-Activated Protein Kinase and Induces Cathepsin K
Yu Sun et al.
CIRCULATION RESEARCH (2009)
Intracerebroventricular infusion of acid sphingomyelinase corrects CNS manifestations in a mouse model of Niemann-Pick A disease
James C. Dodge et al.
EXPERIMENTAL NEUROLOGY (2009)
Tau deletion exacerbates the phenotype of Niemann-Pick type C mice and implicates autophagy in pathogenesis
Chris D. Pacheco et al.
HUMAN MOLECULAR GENETICS (2009)
Cholesterol sensor ORP1L contacts the ER protein VAP to control Rab7-RILP-p150Glued and late endosome positioning
Nuno Rocha et al.
JOURNAL OF CELL BIOLOGY (2009)
The Neuroprotective Effects of Cyclin-dependent Kinase-5 Inhibition in Mice with Niemann-Pick Disease Type C
Youguo Hao et al.
JOURNAL OF HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY-MEDICAL SCIENCES (2009)
Gender dimorphism in siblings with schizophrenia-like psychosis due to Niemann-Pick disease type C
M. Walterfang et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2009)
Alterations of myelin-specific proteins and sphingolipids characterize the brains of acid sphingomyelinase-deficient mice, an animal model of Niemann-Pick disease type A
Barbara Buccinna et al.
JOURNAL OF NEUROCHEMISTRY (2009)
Mitochondrial Cholesterol Loading Exacerbates Amyloid β Peptide-Induced Inflammation and Neurotoxicity
Anna Fernandez et al.
JOURNAL OF NEUROSCIENCE (2009)
24 month-treatment with wmiglustat of three patients with Niemann-Pick disease type C: Follow up using brain spectroscopy
Damien Galanaud et al.
MOLECULAR GENETICS AND METABOLISM (2009)
Pulmonary delivery of recombinant acid sphingomyelinase improves clearance of lysosomal sphingomyelin from the lungs of a murine model of Niemann-Pick disease
Robin J. Ziegler et al.
MOLECULAR GENETICS AND METABOLISM (2009)
Miglustat in patients with Niemann-Pick disease Type C (NP-C): A multicenter observational retrospective cohort study
M. Pineda et al.
MOLECULAR GENETICS AND METABOLISM (2009)
Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study
J. E. Wraith et al.
MOLECULAR GENETICS AND METABOLISM (2009)
Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations
David Meyre et al.
NATURE GENETICS (2009)
Acid sphingomyelinase is a key regulator of cytotoxic granule secretion by primary T lymphocytes
Jasmin Herz et al.
NATURE IMMUNOLOGY (2009)
Beneficial effects of anti-inflammatory therapy in a mouse model of Niemann-Pick disease type C1
David Smith et al.
NEUROBIOLOGY OF DISEASE (2009)
Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian Patients: identification and structural modeling of novel mutations
Tatiana Fancello et al.
NEUROGENETICS (2009)
Synaptic Vesicle Docking: Sphingosine Regulates Syntaxin1 Interaction with Munc18
Paola G. Camoletto et al.
PLOS ONE (2009)
Chronic Cyclodextrin Treatment of Murine Niemann-Pick C Disease Ameliorates Neuronal Cholesterol and Glycosphingolipid Storage and Disease Progression
Cristin D. Davidson et al.
PLOS ONE (2009)
Cyclodextrin overcomes deficient lysosome-to-endoplasmic reticulum transport of cholesterol in Niemann-Pick type C cells
Lina Abi-Mosleh et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1-/- mouse
Benny Liu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Prenatal revelation of Niemann-Pick disease type C in siblings
Ruben Moreno et al.
ACTA PAEDIATRICA (2008)
Knowledge-based gene expression classification via matrix factorization
R. Schachtner et al.
BIOINFORMATICS (2008)
Acid sphingomyelinase is required for efficient phago-lysosomal fusion
Michael Schramm et al.
CELLULAR MICROBIOLOGY (2008)
Neuropathology of the acid sphingomyelinase knockout mouse model of Niemann-Pick A disease including structure-function studies associated with cerebellar Purkinje cell degeneration
Shannon L. Macauley et al.
EXPERIMENTAL NEUROLOGY (2008)
Imatinib therapy blocks cerebellar apoptosis and improves neurological symptoms in a mouse model of Niemann-Pick type C disease
Alejandra R. Alvarez et al.
FASEB JOURNAL (2008)
NPC-db, a Niemann-Pick type C disease gene variation database
Heiko Runz et al.
HUMAN MUTATION (2008)
Niemann-Pick type C1I1061T mutant encodes a functional protein that is selected for endoplasmic reticulum-associated degradation due to protein misfolding
Mark E. Gelsthorpe et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2008)
Lysobisphosphatidic acid controls endosomal cholesterol levels
Julien Chevallier et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2008)
Lipid content of brain, brain membrane lipid domains, and neurons from acid sphingomyelinase deficient mice
Federica Scandroglio et al.
JOURNAL OF NEUROCHEMISTRY (2008)
Mitogen-activated protein kinase activity may not be necessary for the neuropathology of Niemann-Pick type C mice
Min Zhang et al.
JOURNAL OF NEUROCHEMISTRY (2008)
Partial blockage of sterol biosynthesis with a squalene synthase inhibitor in early postnatal Niemann-Pick type C npcnih null mice brains reduces neuronal cholesterol accumulation, abrogates astrogliosis, but may inhibit myelin maturation
Patrick C. Reid et al.
JOURNAL OF NEUROSCIENCE METHODS (2008)
MRI detects therapeutic effects in weanling Niemann-Pick type C mice
Silvia Lope-Piedrafita et al.
JOURNAL OF NEUROSCIENCE RESEARCH (2008)
Delivery of acid sphingomyelinase in normal and Niemann-Pick disease mice using intercellular adhesion molecule-1-targeted polymer nanocarriers
Carmen Garnacho et al.
JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS (2008)
Anomalous surface distribution of glycosyl phosphatidyl inositol-anchored proteins in neurons lacking acid sphingomyelinase
Cristian Galvan et al.
MOLECULAR BIOLOGY OF THE CELL (2008)
Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models
Iwan Jones et al.
MOLECULAR GENETICS AND METABOLISM (2008)
Control of endothelial targeting and intracellular delivery of therapeutic enzymes by modulating the size and shape of ICAM-1-targeted carriers
Silvia Muro et al.
MOLECULAR THERAPY (2008)
Ceramide accumulation mediates inflammation, cell death and infection susceptibility in cystic fibrosis
Volker Teichgraeber et al.
NATURE MEDICINE (2008)
Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium
Emyr Lloyd-Evans et al.
NATURE MEDICINE (2008)
Clinical, Electrophysiological, and Serum Biochemical Measures of Progressive Neurological and Hepatic Dysfunction in Feline Niemann-Pick Type C Disease
Charles H. Vite et al.
PEDIATRIC RESEARCH (2008)
A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B
Margaret M. McGovern et al.
PEDIATRICS (2008)
NPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a step in cholesterol egress from lysosomes
Rodney E. Infante et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Sphingomyelinase deficiency (Niemann-Pick disease) in a Hereford calf
G. K. Saunders et al.
VETERINARY PATHOLOGY (2008)
Genetic variations and treatments that affect the lifespan of the NPC1 mouse
Benny Liu et al.
JOURNAL OF LIPID RESEARCH (2008)
Purified NPC1 protein - I. Binding of cholesterol and oxysterols to a 1278-amino acid membrane protein
Rodney E. Infante et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2008)
Purified NPC1 protein - II. Localization of sterol binding to a 240-amino acid soluble luminal loop
Rodney E. Infante et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2008)
Protein-sphingolipid interactions within cellular membranes
Per Haberkant et al.
JOURNAL OF LIPID RESEARCH (2008)
Liver X receptor activation enhances cholesterol loss from the brain, decreases neuroinflammation, and increases survival of the NPC1 mouse
Joyce J. Repa et al.
JOURNAL OF NEUROSCIENCE (2007)
Decreased estradiol release from astrocytes contributes to the neurodegeneration in a mouse model of Niemann-Pick disease type C
Gang Chen et al.
GLIA (2007)
Drosophila Niemann-Pick Type C-2 genes control sterol homeostasis and steroid biosynthesis:: a model of human neurodegenerative disease
Xun Huang et al.
DEVELOPMENT (2007)
Intraparenchymal injections of acid sphingomyelinase results in regional correction of lysosomal storage pathology in the Niemann-Pick A mouse
Wendy W. Yang et al.
EXPERIMENTAL NEUROLOGY (2007)
Cholesterol efflux via HDL resecretion occurs when cholesterol transport out of the lysosome is impaired
Tamara A. Pagler et al.
JOURNAL OF LIPID RESEARCH (2007)
Cholesterol accumulation is associated with lysosomal dysfunction and autophagic stress in Npcl-/- mouse brain
Guanghong Liao et al.
AMERICAN JOURNAL OF PATHOLOGY (2007)
Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study
Marc C. Patterson et al.
LANCET NEUROLOGY (2007)
Defective cholesterol traffic and neuronal differentiation in neural stem cells of Niemann-Pick type C disease improved by valproic acid, a histone deacetylase inhibitor
Sun-Jung Kim et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2007)
Structural basis of sterol binding by NPC2, a lysosomal protein deficient in Niemann-Pick type C2 disease
Sujuan Xu et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
Differential regulation of ATP binding cassette protein A1 expression and apoA-I lipidation by Niemann-Pick type C1 in murine hepatocytes and macrophages
Ming-Dong Wang et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
Autophagy in Niemann-Pick C disease is dependent upon Beclin-1 and responsive to lipid trafficking defects
Chris D. Pacheco et al.
HUMAN MOLECULAR GENETICS (2007)
Differential alteration of lipid antigen presentation to NKT cells due to imbalances in lipid metabolism
Jens Schumann et al.
EUROPEAN JOURNAL OF IMMUNOLOGY (2007)
Development of an assay for the intermembrane transfer of cholesterol by Niemann-Pick C2 protein
Jonathan O. Babalola et al.
BIOLOGICAL CHEMISTRY (2007)
The National Niemann-Pick C1 Disease Database: Report of clinical features and health problems
William S. Garver et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
Sperm abnormalities in heterozygous acid sphingomyelinase knockout mice reveal a novel approach for the prevention of genetic diseases
Avigdor Butler et al.
AMERICAN JOURNAL OF PATHOLOGY (2007)
The Niemann-Pick type C2 protein loads isoglobotrihexosylceramide onto CD1d molecules and contributes to the thymic selection of NKT cells
Nicolas Schrantz et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2007)
Injection of mouse and human neural stem cells into neonatal Niemann-Pick A model mice
Richard L. Sidman et al.
BRAIN RESEARCH (2007)
Niemann-Pick C disease:: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2
L. Verot et al.
CLINICAL GENETICS (2007)
Cholesterol-dependent balance between evoked and spontaneous synaptic vesicle recycling
Catherine R. Wasser et al.
JOURNAL OF PHYSIOLOGY-LONDON (2007)
Liver cell death and anemia in Wilson disease involve acid sphingomyelinase and ceramide
Philipp A. Lang et al.
NATURE MEDICINE (2007)
The natural history of Niemann-Pick disease type C in the UK
J. Imrie et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2007)
Neural stem cell implantation extends life in Niemann-Pick C1 mice
Iram Ahmad et al.
JOURNAL OF APPLIED GENETICS (2007)
Bone marrow-derived mesenchymal stem cells promote neuronal networks with functional synaptic transmission after transplantation into mice with neurodegeneration
Jae-Sung Bae et al.
STEM CELLS (2007)
Clues to Neuro-Degeneration in Niemann-Pick Type C Disease from Global Gene Expression Profiling
Jonathan V. Reddy et al.
PLOS ONE (2006)
NPC2, the protein deficient in Niemann-Pick C2 disease, consists of multiple glycoforms that bind a variety of sterols
Heng-Ling Liou et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Niemann-Pick C disease in Spain:: Clinical spectrum and development of a disability scale
C. Iturriaga et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2006)
Acid sphingomyelinase deficiency: Prevalence and characterization of an intermediate phenotype of NIEMANN-PICK disease
Melissa P. Wasserstein et al.
JOURNAL OF PEDIATRICS (2006)
Sperm defects in mice lacking a functional Niemann-Pick C1 protein
Jun Fan et al.
MOLECULAR REPRODUCTION AND DEVELOPMENT (2006)
TRAIL activates acid sphingomyelinase via a redox mechanism and releases ceramide to trigger apoptosis
C. A. Dumitru et al.
ONCOGENE (2006)
Pregnane X receptor (PXR) activation: A mechanism for neuroprotection in a mouse model of Niemann-Pick C disease
S. Joshua Langmade et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)
Mitochondrial free cholesterol loading sensitizes to TNF- and Fas-mediated steatohepatitis
Montserrat Mari et al.
CELL METABOLISM (2006)
Cutting edge: Impaired glycosphingolipid trafficking and NKT cell development in mice lacking Niemann-Pick type C1 protein
Yuval Sagiv et al.
JOURNAL OF IMMUNOLOGY (2006)
The lysosomal trafficking of acid sphingomyelinase is mediated by sortilin and mannose 6-phosphate receptor
Xiaoyan Ni et al.
TRAFFIC (2006)
Cholesterol accumulation sequesters Rab9 and disrupts late endosome function in NPC1-deficient cells
Ian G. Ganley et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Imprinting at the SMPD1 locus:: Implications for acid sphingomyelinase-deficient Niemann-Pick disease
CM Simonaro et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
The Niemann-Pick C1 protein in recycling endosomes of presynaptic nerve terminals
B Karten et al.
JOURNAL OF LIPID RESEARCH (2006)
Identification of novel biomarkers for Niemann-Pick disease using gene expression analysis of acid sphingomyelinase knockout mice
R Dhami et al.
MOLECULAR THERAPY (2006)
NPC1 gene deficiency leads to lack of neural stem cell self-renewal and abnormal differentiation through activation of p38 mitogen-activated protein kinase signaling
Se-Ran Yang et al.
STEM CELLS (2006)
Automated microscopy screening for compounds that partially revert cholesterol accumulation in Niemann-Pick C cells
NH Pipalia et al.
JOURNAL OF LIPID RESEARCH (2006)
Natural history of type a Niemann-Pick disease - Possible endpoints for therapeutic trials
MM McGovern et al.
NEUROLOGY (2006)
Lysosomal enzyme delivery by ICAM-1-targeted nanocarriers bypassing glycosylation- and clathrin-dependent endocytosis
S Muro et al.
MOLECULAR THERAPY (2006)
Gene transfer of human acid sphingomyelinase corrects neuropathology and motor deficits in a mouse model of Niemann-Pick type A disease
JC Dodge et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
Defective calcium homeostasis in the cerebellum in a mouse model of Niemann-Pick A disease
L Ginzburg et al.
JOURNAL OF NEUROCHEMISTRY (2005)
Defective insulin receptor activation and altered lipid rafts in Niemann-Pick type C disease hepatocytes
S Vainio et al.
BIOCHEMICAL JOURNAL (2005)
Saccharomyces cerevisiae Npc2p is a functionally conserved homologue of the human Niemann-Pick disease type C 2 protein, hNPC2
AC Berger et al.
EUKARYOTIC CELL (2005)
A Drosophila model of the Niemann-Pick type C lysosome storage disease:: dnpc1a is required for molting and sterol homeostasis
X Huang et al.
DEVELOPMENT (2005)
A lipid analogue that inhibits sphingomyelin hydrolysis and synthesis, increases ceramide, and leads to cell death
PI Darroch et al.
JOURNAL OF LIPID RESEARCH (2005)
Deregulation of the phosphatidylinositol-3 kinase signaling cascade is associated with neurodegeneration in Npc1-/- mouse brain
XN Bi et al.
AMERICAN JOURNAL OF PATHOLOGY (2005)
A yeast model system for functional analysis of the Niemann-Pick type C protein 1 homolog, Ncr1p
AC Berger et al.
TRAFFIC (2005)
AAV8-Mediated hepatic expression of acid sphingomyelinase corrects the metabolic defect in the visceral organs of a mouse model of Niemann-Pick disease
CM Barbon et al.
MOLECULAR THERAPY (2005)
Neurodegeneration in heterozygous Niemann-Pick type C1 (NPC1) mouse - Implication of heterozygous NPC1 mutations being a risk for tauopathy
WX Yu et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
Rhinoviruses infect human epithelial cells via ceramide-enriched membrane platforms
H Grassmé et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
Lactosylceramide in lysosomal storage disorders.: A comparative immunohistochemical and biochemical study
H Hulková et al.
VIRCHOWS ARCHIV (2005)
Ceramide upregulation causes pulmonary cell apoptosis and emphysema-like disease in mice
I Petrache et al.
NATURE MEDICINE (2005)
AAV vector-mediated correction of brain pathology in a mouse model of Niemann-Pick A disease
MA Passini et al.
MOLECULAR THERAPY (2005)
Generation and function of astroglial lipoproteins from Niemann-Pick type C1-deficient mice
B Karten et al.
BIOCHEMICAL JOURNAL (2005)
Molecular, anatomical, and biochemical events associated with neurodegeneration in mice with Niemann-Pick type C disease
H Li et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2005)
Altered cholesterol metabolism in Niemann-Pick type C1 mouse brains affects mitochondrial function
WX Yu et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
Apoptosis accompanied by up-regulation of TNF-alpha death pathway genes in the brain of Niemann-Pick type C disease
YP Wu et al.
MOLECULAR GENETICS AND METABOLISM (2005)
A new fluorimetric enzyme assay for the diagnosis of Niemann-Pick A/B, with specificity of natural sphingomyelinase substrate
OP van Diggelen et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2005)
Plasma chitotriosidase and CCL18: Early biochemical surrogate markers in type B Niemann-Pick disease
J Brinkman et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2005)
Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport
DE Sleat et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
Treatment with arimoclomol, a coinducer of heat shock proteins, delays disease progression in ALS mice
D Kieran et al.
NATURE MEDICINE (2004)
Chronic exposure to U18666A induces apoptosis in cultured murine cortical neurons
NS Cheung et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2004)
A novel cholesterol stain reveals early neuronal cholesterol accumulation in the Niemann-Pick type C1 mouse brain
PC Reid et al.
JOURNAL OF LIPID RESEARCH (2004)
Intracellular accumulation of amyloidogenic fragments of amyloid-β precursor protein in neurons with Niemann-Pick type C defects is associated with endosomal abnormalities
LW Jin et al.
AMERICAN JOURNAL OF PATHOLOGY (2004)
Mutagenesis of the putative sterol-sensing domain of yeast Niemann Pick C-related protein reveals a primordial role in subcellular sphingolipid distribution
K Malathi et al.
JOURNAL OF CELL BIOLOGY (2004)
Compartmentation of the mouse cerebellar cortex by sphingosine kinase
N Terada et al.
JOURNAL OF COMPARATIVE NEUROLOGY (2004)
Mannose 6-phosphate receptor-mediated uptake is defective in acid sphingomyelinase-deficient macrophages - Implications for Niemann-Pick disease enzyme replacement therapy
R Dhami et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Ncr1p, the yeast ortholog of mammalian niemann pick C1 protein, is dispensable for endocytic transport
SC Zhang et al.
TRAFFIC (2004)
The natural history of type B Niemann-Pick disease: Results from a 10-year longitudinal study
MP Wasserstein et al.
PEDIATRICS (2004)
Functional characterization of the postulated intramolecular sphingolipid activator protein domain of human acid sphingomyelinase
M Kölzer et al.
BIOLOGICAL CHEMISTRY (2004)
Niemann-Pick type C disease involves disrupted neurosteroidogenesis and responds to allopregnanolone
LD Griffin et al.
NATURE MEDICINE (2004)
Intracerebral transplantation of adult mouse neural progenitor cells into the Niemann-Pick-A mouse leads to a marked decrease in lysosomal storage pathology
LS Shihabuddin et al.
JOURNAL OF NEUROSCIENCE (2004)
Accumulation of glycosphingolipids in Niemann-Pick C disease disrupts endosomal transport
DT Vruchte et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
NCR-1 and NCR-2, the C-elegans homologs of the human Niemann-Pick type C1 disease protein, function upstream of DAF-9 in the dauer formation pathways
J Li et al.
DEVELOPMENT (2004)
Niemann-Pick type C disease: importance of N-glycosylation sites for function and cellular location of the NPC2 protein
K Chikh et al.
MOLECULAR GENETICS AND METABOLISM (2004)
Impaired sphingomyelinase activity and epidermal differentiation in atopic dermatitis
JM Jensen et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2004)
Reactive oxygen species limit neutrophil life span by activating death receptor signaling
D Scheel-Toellner et al.
BLOOD (2004)
Metazoan and microbial models of Niemann-Pick type C disease
K Higaki et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS (2004)
Axon-dominant localization of cell-surface cholesterol in cultured hippocampal neurons and its disappearance in Niemann-Pick type C model cells
Y Tashiro et al.
EUROPEAN JOURNAL OF NEUROSCIENCE (2004)
Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening
YJ Li et al.
CLINICAL CHEMISTRY (2004)
Postnatal development of inflammation in a murine model of Niemann-Pick type C disease: immunohistochemical observations of microglia and astroglia
M Baudry et al.
EXPERIMENTAL NEUROLOGY (2003)
Ex vivo gene therapy using bone marrow-derived cells: Combined effects of intracerebral and intravenous transplantation in a mouse model of Niemann-Pick disease
HK Jin et al.
MOLECULAR THERAPY (2003)
Identification of 58 novel mutations in Niemann-Pick disease Type C:: Correlation with biochemical phenotype and importance of PTC1-like domains in NPC1
WD Park et al.
HUMAN MUTATION (2003)
Niemann-Pick C heterozygosity confers resistance to lesional necrosis and macrophage apoptosis in murine atherosclerosis
B Feng et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)
Impaired ABCA1-dependent lipid efflux and hypoalphalipoproteinemia in human Niemann-Pick type C disease
HY Choi et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
Activation of human acid sphingomyelinase through modification or deletion of C-terminal cysteine
HW Qiu et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
NPC1 and NPC2 regulate cellular cholesterol homeostasis through generation of low density lipoprotein cholesterol-derived oxysterols
A Frolov et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
Mutation analysis of feline Niemann-Pick C1 disease
KL Somers et al.
MOLECULAR GENETICS AND METABOLISM (2003)
Trafficking defects in endogenously synthesized cholesterol in fibroblasts, macrophages, hepatocytes, and glial cells from Niemann-Pick type C1 mice
PC Reid et al.
JOURNAL OF LIPID RESEARCH (2003)
The transport of low density lipoprotein-derived cholesterol to the plasma membrane is defective in NPC1 cells
KM Wojtanik et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
Structure of a cholesterol-binding protein deficient in Niemann-Pick type C2 disease
N Friedland et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)
The integrity of a cholesterol-binding pocket in Niemann-Pick C2 protein is necessary to control lysosome cholesterol levels
DC Ko et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)
Severe impairment in early host defense against Listeria monocytogenes in mice deficient in acid sphingomyelinase
O Utermöhlen et al.
JOURNAL OF IMMUNOLOGY (2003)
Patterned Purkinje cell degeneration in mouse models of Niemann-Pick type C disease
JR Sarna et al.
JOURNAL OF COMPARATIVE NEUROLOGY (2003)
Trafficking of cholesterol from cell bodies to distal axons in Niemann pick C1-deficient neurons
B Karten et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease
TS Blom et al.
HUMAN MOLECULAR GENETICS (2003)
Pathologic changes of glial cells in murine model of Niemann-Pick disease type C: Immunohistochemical, lectin-histochemical and ultrastructural observations
H Suzuki et al.
PEDIATRICS INTERNATIONAL (2003)
The demographics and distribution of type B Niemann-Pick disease: Novel mutations lead to new genotype/phenotype correlations
CM Simonaro et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Metabolism of sphingosine 1-phosphate and lysophosphatidic acid:: a genome wide analysis of gene expression in Drosophila
Andrew D. Renault et al.
MECHANISMS OF DEVELOPMENT (2002)
Cholesterol accumulates in cell bodies, but is decreased in distal axons, of Niemann-Pick C1-deficient neurons
B Karten et al.
JOURNAL OF NEUROCHEMISTRY (2002)
MLN64 mediates mobilization of lysosomal cholesterol to steroidogenic mitochondria
M Zhang et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
Reproductive pathology and sperm physiology in acid sphingomyelinase-deficient mice
A Butler et al.
AMERICAN JOURNAL OF PATHOLOGY (2002)
Studies on neuronal death in the mouse model of Niemann-Pick C disease
RP Erickson et al.
JOURNAL OF NEUROSCIENCE RESEARCH (2002)
The crystal structure of a major dust mite allergen Der p 2, and its biological implications
U Derewenda et al.
JOURNAL OF MOLECULAR BIOLOGY (2002)
Late endosome motility depends on lipids via the small GTPase Rab7
C Lebrand et al.
EMBO JOURNAL (2002)
Gaucher and Niemann-Pick diseases - enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards
NA Chamoles et al.
CLINICA CHIMICA ACTA (2002)
Neurodegeneration in the Niemann-Pick C mouse: Glial involvement
DC German et al.
NEUROSCIENCE (2002)
Inhibition of intracellular cholesterol transport alters presenilin localization and amyloid precursor protein processing in neuronal cells
H Runz et al.
JOURNAL OF NEUROSCIENCE (2002)
Cholesterol overload promotes morphogenesis of a Niemann-Pick C (NPC)-like compartment independent of inhibition of NPC1 or HE1/NPC2 function
A Frolov et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
Mechanisms of Staphylococcus aureus induced apoptosis of human endothelial cells
M Esen et al.
APOPTOSIS (2001)
Cyclodextrins in the treatment of a mouse model of Niemann-Pick C disease
F Camargo et al.
LIFE SCIENCES (2001)
Acid sphingomyelinase-deficient macrophages have defective cholesterol trafficking and efflux
AR Leventhal et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
Niemann-Pick disease type C:: Spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group
G Millat et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Accumulation of cholera toxin and GM1 ganglioside in the early endosome of Niemann-Pick C1-deficient cells
Y Sugimoto et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2001)
Sites and temporal changes of gangliosides GM1/GM2 storage in the Niemann-Pick disease type C mouse brain
M Taniguchi et al.
BRAIN & DEVELOPMENT (2001)
Critical role for glycosphingolipids in Niemann-Pick disease type C
M Zervas et al.
CURRENT BIOLOGY (2001)
Effects of dietary cholesterol restriction in a feline model of Niemann-Pick type C disease
KL Somers et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2001)
Analysis of the lung pathology and alveolar macrophage function in the acid sphingomyelinase-deficient mouse model of Niemann-Pick disease
R Dhami et al.
LABORATORY INVESTIGATION (2001)
CD95 signaling via ceramide-rich membrane rafts
H Grassmé et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1
XF Sun et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Niemann-Pick C1 disease:: Correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop
G Millat et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Patterned cerebellar Purkinje cell death in a transgenic mouse model of Niemann Pick type A/B disease
J Sarna et al.
EUROPEAN JOURNAL OF NEUROSCIENCE (2001)
Cessation of rapid late endosomal tubulovesicular trafficking in Niemann-Pick type C1 disease
M Zhang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2001)
Site-specific phosphorylation of tau accompanied by activation of mitogen-activated protein kinase (MAPK) in brains of Niemann-Pick type C mice
N Sawamura et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
Dynamic movements of organelles containing Niemann-Pick C1 protein: NPC1 involvement in late endocytic events
DC Ko et al.
MOLECULAR BIOLOGY OF THE CELL (2001)
The steroidogenic acute regulatory protein homolog MLN64, a late endosomal cholesterol-binding protein
F Alpy et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
Accumulation and aggregation of amyloid β-protein in late endosomes of Niemann-Pick type C cells
T Yamazaki et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
Neurons in Niemann-Pick disease type C accumulate gangliosides as well as unesterified cholesterol and undergo dendritic and axonal alterations
M Zervas et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2001)
Transmembrane molecular pump activity of Niemann-Pick C1 protein
JP Davies et al.
SCIENCE (2000)
Identification of HE1 as the second gene of Niemann-Pick C disease
S Naureckiene et al.
SCIENCE (2000)
Cholesterol is sequestered in the brains of mice with Niemann-Pick Type C disease but turnover is increased
CL Xie et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2000)
Infusion of recombinant human acid sphingomyelinase into Niemann-Pick disease mice leads to visceral, but not neurological, correction of the pathophysiology
SRP Miranda et al.
FASEB JOURNAL (2000)
Hematopoietic stem cell gene therapy leads to marked visceral organ improvements and a delayed onset of neurological abnormalities in the acid sphingomyelinase deficient mouse model of Niemann-Pick disease
SRP Miranda et al.
GENE THERAPY (2000)
Creation of a mouse model for non-neurological (type B) Niemann-Pick disease by stable, low level expression of lysosomal sphingomyelinase in the absence of secretory sphingomyelinase: relationship between brain intra-lysosomal enzyme activity and central nervous system function
S Marathe et al.
HUMAN MOLECULAR GENETICS (2000)
Acute systemic inflammation up-regulates secretory sphingomyelinase in vivo:: A possible link between inflammatory cytokines and atherogenesis
ML Wong et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2000)
Deficient ferritin immunoreactivity in tissues from Niemann-Pick type C patients: Extension of findings to fetal tissues, H and L ferritin isoforms, but also one case of the rare Niemann-Pick C2 complementation group
H Christomanou et al.
MOLECULAR GENETICS AND METABOLISM (2000)
A model for Niemann-Pick type C disease in the nematode Caenorhabditis elegans
M Sym et al.
CURRENT BIOLOGY (2000)
Role of acidic sphingomyelinase in Fas/CD95-mediated cell death
T Lin et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2000)
Perturbation of membrane microdomains reduces mitogenic signaling and increases susceptibility to apoptosis after T cell receptor stimulation
M Nix et al.
CELL DEATH AND DIFFERENTIATION (2000)
Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis
T Cox et al.
LANCET (2000)
Pharmacological and genetic modifications of somatic cholesterol do not substantially alter the course of CNS disease in Niemann-Pick C mice
RP Erickson et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2000)
A modifier of Niemann-Pick C 1 maps to mouse chromosome 19
JS Zhang et al.
MAMMALIAN GENOME (2000)
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