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

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

Gastrointestinal Tract Pathology in a BALB/c Niemann–Pick Disease Type C1 Null Mouse Model

(2018) Antony Cougnoux et al.   DIGESTIVE DISEASES AND SCIENCES

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

Pulmonary involvement in Niemann-Pick C type 1

(2018) Orna Staretz-Chacham et al.   EUROPEAN JOURNAL OF PEDIATRICS

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

Quantitative magnetic resonance imaging of brain atrophy in a mouse model of Niemann-Pick type C disease

(2017) John W. Totenhagen et al.   PLoS One

Ezetimibe increases intestinal expression of the LDL receptor gene in dyslipidaemic men with insulin resistance

(2016) Jean-Philippe Drouin-Chartier et al.   DIABETES OBESITY & METABOLISM

Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann–Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease

(2016) Tobias Schwerd et al.   GUT

Normalization of Hepatic Homeostasis in theNpc1nmf164Mouse Model of Niemann-Pick Type C Disease Treated with the Histone Deacetylase Inhibitor Vorinostat

(2016) Andrew B. Munkacsi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Extra-hepatic metabolism of 7-ketocholesterol occurs by esterification to fatty acids via cPLA2α and SOAT1 followed by selective efflux to HDL

(2015) Jung Wha Lee et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Apolipoprotein A-IV: a protein intimately involved in metabolism

(2015) Fei Wang et al.   JOURNAL OF LIPID RESEARCH

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

Hepatic entrapment of esterified cholesterol drives continual expansion of whole body sterol pool in lysosomal acid lipase-deficient mice

(2014) Amal Aqul et al.   AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY

Cholesterol Esters (CE) Derived From Hepatic Sterol O-Acyltransferase 2 (SOAT2) Are Associated With More Atherosclerosis Than CE From Intestinal SOAT2

(2014) Jun Zhang et al.   CIRCULATION RESEARCH

Intestinal transport and metabolism of bile acids

(2014) Paul A. Dawson et al.   JOURNAL OF LIPID RESEARCH

Relevance of neuronal and glial NPC1 for synaptic input to cerebellar Purkinje cells

(2014) Isabelle Buard et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

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

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

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

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

Blockade of cholesterol absorption by ezetimibe reveals a complex homeostatic network in enterocytes

(2012) Luke J. Engelking et al.   JOURNAL OF LIPID RESEARCH

Tissue-specific knockouts of ACAT2 reveal that intestinal depletion is sufficient to prevent diet-induced cholesterol accumulation in the liver and blood

(2012) Jun Zhang et al.   JOURNAL OF LIPID RESEARCH

Intestinal development and differentiation

(2011) Taeko K. Noah et al.   EXPERIMENTAL CELL 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

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

Pulmonary function and pathology in hydroxypropyl-beta-cyclodextin-treated and untreated Npc1−/− mice

(2011) Akshay Muralidhar et al.   MOLECULAR GENETICS AND METABOLISM

Multiple mechanisms limit the accumulation of unesterified cholesterol in the small intestine of mice deficient in both ACAT2 and ABCA1

(2010) Stephen D. Turley et al.   AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY

Defective cholesterol trafficking in Niemann-Pick C-deficient cells

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

Niemann-Pick disease type C

(2010) Marie T Vanier   Orphanet Journal of Rare Diseases

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

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

Respiratory disease in Niemann-Pick type C2 is caused by pulmonary alveolar proteinosis

(2009) M Griese et al.   CLINICAL GENETICS

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

Amelioration of enteric neuropathology in a mouse model of Niemann-Pick C by Npc1 expression in enteric glia

(2009) Raj Kapur et al.   JOURNAL OF NEUROSCIENCE 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

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