Delineation of metabolic responses of Npc1 mice lacking the cholesterol-esterifying enzyme SOAT2 to acute treatment with 2-hydroxypropyl-β-cyclodextrin

Genetic background modifies phenotypic severity and longevity in a mouse model of Niemann-Pick disease type C1

(2020) Jorge L. Rodriguez-Gil et al.   Disease Models & Mechanisms

Animal models for Niemann-Pick type C: implications for drug discovery & development

(2019) Cathrine K. Fog et al.   Expert Opinion on Drug Discovery

Ontogenesis and Modulation of Intestinal Unesterified Cholesterol Sequestration in a Mouse Model of Niemann–Pick C1 Disease

(2019) Adam M. Lopez et al.   DIGESTIVE DISEASES AND SCIENCES

Niemann-Pick C1-deficient mice lacking sterol O-acyltransferase 2 have less hepatic cholesterol entrapment and improved liver function

(2018) Adam M. Lopez et al.   AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY

Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency

(2018) Maja Di Rocco et al.   Orphanet Journal of Rare Diseases

Impact of loss of SOAT2 function on disease progression in the lysosomal acid lipase-deficient mouse

(2018) Adam M. Lopez et al.   STEROIDS

Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial

(2017) Daniel S Ory et al.   LANCET

Cyclodextrins as Emerging Therapeutic Tools in the Treatment of Cholesterol-Associated Vascular and Neurodegenerative Diseases

(2016) Caroline Coisne et al.   MOLECULES

A Murine Niemann-Pick C1 I1061T Knock-In Model Recapitulates the Pathological Features of the Most Prevalent Human Disease Allele

(2015) M. Praggastis et al.   JOURNAL OF NEUROSCIENCE

Efficacy and Safety of Ezetimibe Monotherapy in Children with Heterozygous Familial or Nonfamilial Hypercholesterolemia

(2015) D. Meeike Kusters et al.   JOURNAL OF PEDIATRICS

Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease

(2015) Charles H. Vite et al.   Science Translational Medicine

Systemic administration of 2-hydroxypropyl-β-cyclodextrin to symptomatic Npc1-deficient mice slows cholesterol sequestration in the major organs and improves liver function

(2014) Adam M Lopez et al.   CLINICAL AND EXPERIMENTAL PHARMACOLOGY AND PHYSIOLOGY

Collaborative Development of 2-Hydroxypropyl-β-Cyclodextrin for the Treatment of Niemann-Pick Type C1 Disease

(2014) Elizabeth Ottinger et al.   CURRENT TOPICS IN MEDICINAL CHEMISTRY

Molecular Mechanisms of Cellular Cholesterol Efflux

(2014) Michael C. Phillips   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2014) Jean E. Vance et al.   JOURNAL OF LIPID RESEARCH

Hepatic ACAT2 Knock Down Increases ABCA1 and Modifies HDL Metabolism in Mice

(2014) Matteo Pedrelli et al.   PLoS One

Ezetimibe markedly attenuates hepatic cholesterol accumulation and improves liver function in the lysosomal acid lipase-deficient mouse, a model for cholesteryl ester storage disease

(2013) Jen-Chieh Chuang et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Controlling Cholesterol Synthesis beyond 3-Hydroxy-3-methylglutaryl-CoA Reductase (HMGCR)

(2013) Laura J. Sharpe et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Lung toxicity of hydroxypropyl-β-cyclodextrin infusion

(2013) Yin-Hsiu Chien et al.   MOLECULAR GENETICS AND METABOLISM

Therapeutic potential of cyclodextrins in the treatment of Niemann–Pick type C disease

(2012) Benny Liu   Clinical Lipidology

Cholesteryl esters and ACAT

(2012) Camilla Pramfalk et al.   EUROPEAN JOURNAL OF LIPID SCIENCE AND TECHNOLOGY

Lecithin:cholesterol acyltransferase: old friend or foe in atherosclerosis?

(2012) Sandra Kunnen 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

Effects of cyclodextrin in two patients with Niemann–Pick Type C disease

(2012) Muneaki Matsuo et al.   MOLECULAR GENETICS AND METABOLISM

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

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

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

Defective cholesterol trafficking in Niemann-Pick C-deficient cells

(2010) Kyle B. Peake et al.   FEBS LETTERS

Niemann-Pick type C disease: molecular mechanisms and potential therapeutic approaches

(2010) Anton I. Rosenbaum et al.   JOURNAL OF NEUROCHEMISTRY

Niemann-Pick disease type C

(2010) Marie T Vanier   Orphanet Journal of Rare Diseases

Niemann–Pick C1 Like 1 (NPC1L1) an intestinal sterol transporter

(2009) Harry R. Davis et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

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

(2009) Hyock Joo Kwon et al.   CELL

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

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

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