Niemann-Pick C disease and mobilization of lysosomal cholesterol by cyclodextrin

Synthesis, Characterization, and Evaluation of Pluronic-Based β-Cyclodextrin Polyrotaxanes for Mobilization of Accumulated Cholesterol from Niemann-Pick Type C Fibroblasts

(2013) Christopher J. Collins et al.   BIOCHEMISTRY

Ontogenic changes in lung cholesterol metabolism, lipid content, and histology in mice with Niemann–Pick type C disease

(2013) Charina M. Ramirez et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Synthesis of 2-Hydroxypropyl-β-cyclodextrin/Pluronic-Based Polyrotaxanes via Heterogeneous Reaction as Potential Niemann-Pick Type C Therapeutics

(2013) Yawo A. Mondjinou et al.   BIOMACROMOLECULES

Miglustat: A Review of Its Use in Niemann-Pick Disease Type C

(2013) Katherine A. Lyseng-Williamson   DRUGS

Cyclodextrin alleviates neuronal storage of cholesterol in Niemann-Pick C disease without evidence of detectable blood–brain barrier permeability

(2013) Charles C. Pontikis et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling

(2013) Martin Fan et al.   JOURNAL OF LIPID RESEARCH

Cholesterol and F-actin are required for clustering of recycling synaptic vesicle proteins in the presynaptic plasma membrane

(2013) Jeffrey S. Dason et al.   JOURNAL OF PHYSIOLOGY-LONDON

Efficacy of Miglustat in Niemann–Pick C disease: A single centre experience

(2013) Virginia Maria Ginocchio et al.   MOLECULAR GENETICS AND METABOLISM

Treatment of Niemann–Pick Type C Disease by Histone Deacetylase Inhibitors

(2013) Paul Helquist et al.   Neurotherapeutics

A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient’s skin

(2013) Natascha Bergamin et al.   Orphanet Journal of Rare Diseases

Niemann-Pick type C1 patient-specific induced pluripotent stem cells display disease specific hallmarks

(2013) Michaela Trilck et al.   Orphanet Journal of Rare Diseases

Histone Deacetylase Inhibition Decreases Cholesterol Levels in Neuronal Cells by Modulating Key Genes in Cholesterol Synthesis, Uptake and Efflux

(2013) Maria João Nunes et al.   PLoS One

Pulmonary Abnormalities in Animal Models Due to Niemann-Pick Type C1 (NPC1) or C2 (NPC2) Disease

(2013) Blair R. Roszell et al.   PLoS One

Pre-Symptomatic Activation of Antioxidant Responses and Alterations in Glucose and Pyruvate Metabolism in Niemann-Pick Type C1-Deficient Murine Brain

(2013) Barry E. Kennedy et al.   PLoS One

Npc1 Acting in Neurons and Glia Is Essential for the Formation and Maintenance of CNS Myelin

(2013) Ting Yu et al.   PLoS Genetics

Characterization of the Niemann-Pick C pathway in alveolar type II cells and lamellar bodies of the lung

(2012) Blair R. Roszell et al.   AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY

Formation and function of phosphatidylserine and phosphatidylethanolamine in mammalian cells

(2012) Jean E. Vance et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Cholesterol-depletion corrects APP and BACE1 misstrafficking in NPC1-deficient cells

(2012) Martina Malnar et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Increased excitability and compromised long-term potentiation in the neocortex of NPC1−/− mice

(2012) Yosef Avchalumov et al.   BRAIN RESEARCH

Uptake of a fluorescent methyl-β-cyclodextrin via clathrin-dependent endocytosis

(2012) Anna Pia Plazzo et al.   CHEMISTRY AND PHYSICS OF LIPIDS

Neuronal and epithelial cell rescue resolves chronic systemic inflammation in the lipid storage disorder Niemann-Pick C

(2012) Manuel E. Lopez et al.   HUMAN MOLECULAR GENETICS

Disruption and therapeutic rescue of autophagy in a human neuronal model of Niemann Pick type C1

(2012) M. Paulina Ordonez et al.   HUMAN MOLECULAR GENETICS

Microarray expression analysis and identification of serum biomarkers for Niemann–Pick disease, type C1

(2012) Celine V.M. Cluzeau et al.   HUMAN MOLECULAR GENETICS

Mutant human APP exacerbates pathology in a mouse model of NPC and its reversal by a β-cyclodextrin

(2012) Mahua Maulik et al.   HUMAN MOLECULAR GENETICS

Normalization of Cholesterol Homeostasis by 2-Hydroxypropyl-β-cyclodextrin in Neurons and Glia from Niemann-Pick C1 (NPC1)-deficient Mice

(2012) Kyle B. Peake et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Histone Deacetylase-1 (HDAC1) Is a Molecular Switch between Neuronal Survival and Death

(2012) Farah H. Bardai et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Role of Cathepsin D in U18666A-induced Neuronal Cell Death

(2012) Asha Amritraj et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Neuroprotection by cyclodextrin in cell and mouse models of Alzheimer disease

(2012) Jiaqi Yao et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C

(2012) Y. H. Chien et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Niemann-Pick Type C2 protein contributes to the transport of endosomal cholesterol to mitochondria without interacting with NPC1

(2012) Barry E. Kennedy et al.   JOURNAL OF LIPID RESEARCH

Cyclodextrin mediates rapid changes in lipid balance inNpc1−/−mice without carrying cholesterol through the bloodstream

(2012) Anna M. Taylor et al.   JOURNAL OF LIPID RESEARCH

Complement is dispensable for neurodegeneration in Niemann-Pick disease type C

(2012) Manuel E Lopez et al.   Journal of Neuroinflammation

Miglustat Improves Purkinje Cell Survival and Alters Microglial Phenotype in Feline Niemann-Pick Disease Type C

(2012) Veronika M. Stein et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update

(2012) Marc C. Patterson et al.   MOLECULAR GENETICS AND METABOLISM

Lipid rafts, synaptic transmission and plasticity: Impact in age-related neurodegenerative diseases

(2012) Ana M. Sebastião et al.   NEUROPHARMACOLOGY

Oxidative Stress: A Pathogenic Mechanism for Niemann-Pick Type C Disease

(2012) Mary Carmen Vázquez et al.   Oxidative Medicine and Cellular Longevity

Quantitative Proteomic Analysis of Niemann-Pick Disease, Type C1 Cerebellum Identifies Protein Biomarkers and Provides Pathological Insight

(2012) Stephanie M. Cologna et al.   PLoS One

The AAA ATPase VPS4/SKD1 Regulates Endosomal Cholesterol Trafficking Independently of ESCRT-III

(2012) Ximing Du et al.   TRAFFIC

Endosomal/Lysosomal Processing of Gangliosides Affects Neuronal Cholesterol Sequestration in Niemann-Pick Disease Type C

(2011) Sharon Zhou et al.   AMERICAN JOURNAL OF PATHOLOGY

Sterol Transfer between Cyclodextrin and Membranes: Similar but Not Identical Mechanism to NPC2-Mediated Cholesterol Transfer

(2011) Leslie A. McCauliff et al.   BIOCHEMISTRY

Niemann-Pick Type C1 deficiency in microglia does not cause neuron death in vitro

(2011) Kyle B. Peake et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Function of the Niemann–Pick type C proteins and their bypass by cyclodextrin

(2011) Jean E Vance et al.   CURRENT OPINION IN LIPIDOLOGY

Temporal and cell-specific deletion establishes that neuronal Npc1 deficiency is sufficient to mediate neurodegeneration

(2011) Ting Yu et al.   HUMAN MOLECULAR GENETICS

A novel mouse model of Niemann–Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations

(2011) Robert A. Maue et al.   HUMAN MOLECULAR GENETICS

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

(2011) Andrew B. Munkacsi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A role for oxysterol-binding protein–related protein 5 in endosomal cholesterol trafficking

(2011) Ximing Du et al.   JOURNAL OF CELL BIOLOGY

A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma

(2011) Xuntian Jiang et al.   JOURNAL OF LIPID RESEARCH

Quantitative role of LAL, NPC2, and NPC1 in lysosomal cholesterol processing defined by genetic and pharmacological manipulations

(2011) Charina M. Ramirez et al.   JOURNAL OF LIPID RESEARCH

Brain pathology in Niemann Pick disease type A: insights from the acid sphingomyelinase knockout mice

(2011) Maria Dolores Ledesma et al.   JOURNAL OF NEUROCHEMISTRY

Anatomically Defined Neuron-Based Rescue of Neurodegenerative Niemann-Pick Type C Disorder

(2011) M. E. Lopez et al.   JOURNAL OF NEUROSCIENCE

Unesterified Cholesterol Accumulation in Late Endosomes/Lysosomes Causes Neurodegeneration and Is Prevented by Driving Cholesterol Export from This Compartment

(2011) A. Aqul et al.   JOURNAL OF NEUROSCIENCE

Early glial activation, synaptic changes and axonal pathology in the thalamocortical system of Niemann–Pick type C1 mice

(2011) Sarah N.R. Pressey et al.   NEUROBIOLOGY OF DISEASE

Presynaptic impairment in Niemann–Pick C1-deficient neurons: Not dependent on presence of glial cells

(2011) Shujun Xu et al.   NEUROSCIENCE LETTERS

Protein Replacement Therapy Partially Corrects the Cholesterol-Storage Phenotype in a Mouse Model of Niemann-Pick Type C2 Disease

(2011) Gitte Krogh Nielsen et al.   PLoS One

Histone deacetylase inhibitor treatment dramatically reduces cholesterol accumulation in Niemann-Pick type C1 mutant human fibroblasts

(2011) N. H. Pipalia et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Amino acid substitution in NPC1 that abolishes cholesterol binding reproduces phenotype of complete NPC1 deficiency in mice

(2011) X. Xie et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Niemann-Pick type C 1 function requires lumenal domain residues that mediate cholesterol-dependent NPC2 binding

(2011) M. S. Deffieu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Increased expression of the lysosomal cholesterol transporter NPC1 in Alzheimer's disease

(2010) Katarina Kågedal et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Identification of Surface Residues on Niemann-Pick C2 Essential for Hydrophobic Handoff of Cholesterol to NPC1 in Lysosomes

(2010) Michael L. Wang et al.   Cell Metabolism

Cerebellar Long-term Depression is Deficient in Niemann–Pick Type C Disease Mice

(2010) Cheng-Long Sun et al.   CEREBELLUM

Decreased purinergic inhibition of synaptic activity in a mouse model of Niemann-Pick disease type C

(2010) Su-ya Zhou et al.   HIPPOCAMPUS

Cholesterol reduction impairs exocytosis of synaptic vesicles

(2010) A. Linetti et al.   JOURNAL OF CELL SCIENCE

Recovery from liver disease in a Niemann-Pick type C mouse model

(2010) Naomi L. Sayre et al.   JOURNAL OF LIPID RESEARCH

Altered apolipoprotein E glycosylation is associated with Aβ(42) accumulation in an animal model of Niemann-Pick Type C disease

(2010) Ching-Ching Chua et al.   JOURNAL OF NEUROCHEMISTRY

Vesicular Sterols Are Essential for Synaptic Vesicle Cycling

(2010) J. S. Dason et al.   JOURNAL OF NEUROSCIENCE

Oxidative stress in Niemann–Pick disease, type C

(2010) Rao Fu et al.   MOLECULAR GENETICS AND METABOLISM

Defects of synaptic vesicle turnover at excitatory and inhibitory synapses in Niemann–Pick C1-deficient neurons

(2010) S. Xu et al.   NEUROSCIENCE

Niemann-Pick disease type C

(2010) Marie T Vanier   Orphanet Journal of Rare Diseases

2-Hydroxypropyl-β-Cyclodextrin Raises Hearing Threshold in Normal Cats and in Cats With Niemann-Pick Type C Disease

(2010) Sarah Ward et al.   PEDIATRIC RESEARCH

Weekly Cyclodextrin Administration Normalizes Cholesterol Metabolism in Nearly Every Organ of the Niemann-Pick Type C1 Mouse and Markedly Prolongs Life

(2010) Charina M Ramirez et al.   PEDIATRIC RESEARCH

Endocytosis of beta-cyclodextrins is responsible for cholesterol reduction in Niemann-Pick type C mutant cells

(2010) A. I. Rosenbaum et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Cholesterol Oxidation Products Are Sensitive and Specific Blood-Based Biomarkers for Niemann-Pick C1 Disease

(2010) F. D. Porter et al.   Science Translational Medicine

Improvement in Lipid and Protein Trafficking in Niemann-Pick C1 Cells by Correction of a Secondary Enzyme Defect

(2010) Cecilia Devlin et al.   TRAFFIC

Increased Activity and Altered Subcellular Distribution of Lysosomal Enzymes Determine Neuronal Vulnerability in Niemann-Pick Type C1-Deficient Mice

(2009) Asha Amritraj et al.   AMERICAN JOURNAL OF PATHOLOGY

Cholesterol, regulated exocytosis and the physiological fusion machine

(2009) Matthew A. Churchward et al.   BIOCHEMICAL JOURNAL

Fusion Step-Specific Influence of Cholesterol on SNARE-Mediated Membrane Fusion

(2009) Jinyoung Chang et al.   BIOPHYSICAL JOURNAL

Structure of N-Terminal Domain of NPC1 Reveals Distinct Subdomains for Binding and Transfer of Cholesterol

(2009) Hyock Joo Kwon et al.   CELL

Conditional Niemann-Pick C mice demonstrate cell autonomous Purkinje cell neurodegeneration

(2009) Matthew J. Elrick et al.   HUMAN MOLECULAR GENETICS

Niemann-Pick C1 Functions Independently of Niemann-Pick C2 in the Initial Stage of Retrograde Transport of Membrane-impermeable Lysosomal Cargo

(2009) Stephen D. B. Goldman et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Cyclodextrin overcomes the transport defect in nearly every organ of NPC1 mice leading to excretion of sequestered cholesterol as bile acid

(2009) Benny Liu et al.   JOURNAL OF LIPID RESEARCH

MLN64 mediates egress of cholesterol from endosomes to mitochondria in the absence of functional Niemann-Pick Type C1 protein

(2009) Mark Charman et al.   JOURNAL OF LIPID RESEARCH

Mitochondrial Cholesterol Loading Exacerbates Amyloid   Peptide-Induced Inflammation and Neurotoxicity

(2009) A. Fernandez et al.   JOURNAL OF NEUROSCIENCE

Cholesterol Synthesis Inhibitor U18666A and the Role of Sterol Metabolism and Trafficking in Numerous Pathophysiological Processes

(2009) Richard J. Cenedella   LIPIDS

Lack of Niemann–Pick type C1 induces age-related degeneration in the mouse retina

(2009) Thomas Claudepierre et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Miglustat in adult and juvenile patients with Niemann–Pick disease type C: Long-term data from a clinical trial

(2009) James E. Wraith et al.   MOLECULAR GENETICS AND METABOLISM

Chronic Cyclodextrin Treatment of Murine Niemann-Pick C Disease Ameliorates Neuronal Cholesterol and Glycosphingolipid Storage and Disease Progression

(2009) Cristin D. Davidson et al.   PLoS One

Unraveling the sterol-trafficking defect in Niemann-Pick C disease

(2009) S. L. Sturley et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Cyclodextrin overcomes deficient lysosome-to-endoplasmic reticulum transport of cholesterol in Niemann-Pick type C cells

(2009) L. Abi-Mosleh et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1-/- mouse

(2009) B. Liu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Regulation of Sterol Transport between Membranes and NPC2†

(2008) Zhi Xu et al.   BIOCHEMISTRY

Different kinetics of cholesterol delivery to components of the cholesterol homeostatic machinery: Implications for cholesterol trafficking to the endoplasmic reticulum

(2008) Ika Kristiana et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Switch-like Control of SREBP-2 Transport Triggered by Small Changes in ER Cholesterol: A Delicate Balance

(2008) Arun Radhakrishnan et al.   Cell Metabolism

Imatinib therapy blocks cerebellar apoptosis and improves neurological symptoms in a mouse model of Niemann-Pick type C disease

(2008) Alejandra R. Alvarez et al.   FASEB JOURNAL

In vivoantisense oligonucleotide reduction of NPC1 expression as a novel mouse model for Niemann Pick type C- associated liver disease

(2008) Victoria M. Rimkunas et al.   HEPATOLOGY

Characterization of Fluorescent Sterol Binding to Purified Human NPC1

(2008) Ronghua Liu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Niemann-Pick Type C1 I1061T Mutant Encodes a Functional Protein That Is Selected for Endoplasmic Reticulum-associated Degradation Due to Protein Misfolding

(2008) Mark E. Gelsthorpe et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Lysobisphosphatidic Acid Controls Endosomal Cholesterol Levels

(2008) Julien Chevallier et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

TNF-α plays a role in hepatocyte apoptosis in Niemann-Pick type C liver disease

(2008) Victoria M. Rimkunas et al.   JOURNAL OF LIPID RESEARCH

GM2/GD2 and GM3 gangliosides have no effect on cellular cholesterol pools or turnover in normal or NPC1 mice

(2008) Hao Li et al.   JOURNAL OF LIPID RESEARCH

Neuronal Loss of Drosophila NPC1a Causes Cholesterol Aggregation and Age-Progressive Neurodegeneration

(2008) S. E. Phillips et al.   JOURNAL OF NEUROSCIENCE

Astrocyte-only Npc1 reduces neuronal cholesterol and triples life span ofNpc1-/-mice

(2008) Min Zhang et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Brainstem neuropathology in a mouse model of Niemann–Pick disease type C

(2008) Zhuo Luan et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

24 month-treatment with miglustat of three patients with Niemann-Pick disease type C: Follow up using brain spectroscopy

(2008) Damien Galanaud et al.   MOLECULAR GENETICS AND METABOLISM

Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium

(2008) Emyr Lloyd-Evans et al.   NATURE MEDICINE

Clinical, Electrophysiological, and Serum Biochemical Measures of Progressive Neurological and Hepatic Dysfunction in Feline Niemann-Pick Type C Disease

(2008) Charles H Vite et al.   PEDIATRIC RESEARCH