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

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

Cholesterol homeostatic responses provide biomarkers for monitoring treatment for the neurodegenerative disease Niemann–Pick C1 (NPC1)

(2014) Brett Tortelli et al.   HUMAN MOLECULAR GENETICS

2-Hydroxypropyl-β-cyclodextrin Promotes Transcription Factor EB-mediated Activation of Autophagy

(2014) Wensi Song et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Development and validation of sensitive LC-MS/MS assays for quantification of HP-β-CD in human plasma and CSF

(2014) Hui Jiang et al.   JOURNAL OF LIPID RESEARCH

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

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

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

Disease and patient characteristics in NP-C patients: findings from an international disease registry

(2013) Marc C Patterson et al.   Orphanet Journal of Rare Diseases

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

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

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

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

An online nano-LC-ESI-FTICR-MS method for comprehensive characterization of endogenous fragments from amyloid β and amyloid precursor protein in human and cat cerebrospinal fluid

(2012) Gunnar Brinkmalm et al.   JOURNAL OF MASS SPECTROMETRY

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

Amyloid-β metabolism in Niemann-Pick C disease models and patients

(2012) Niklas Mattsson et al.   METABOLIC BRAIN DISEASE

Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat

(2012) Mark Walterfang et al.   Orphanet Journal of Rare Diseases

Hearing Loss and Hair Cell Death in Mice Given the Cholesterol-Chelating Agent Hydroxypropyl-β-Cyclodextrin

(2012) Mark A. Crumling et al.   PLoS One

Brain Superhighways

(2012) D. J. Begley   Science Translational Medicine

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

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

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

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

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

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

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

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

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

Cyclodextrin Induces Calcium-Dependent Lysosomal Exocytosis

(2010) Fannie W. Chen et al.   PLoS One

Involvement of type II pneumocytes in the pathogenesis of chronic obstructive pulmonary disease

(2010) Chun-zhen Zhao et al.   RESPIRATORY MEDICINE

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

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

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

(2009) Hyock Joo Kwon et al.   CELL

Long-Term Miglustat Therapy in Children With Niemann-Pick Disease Type C

(2009) Marc C. Patterson et al.   JOURNAL OF CHILD NEUROLOGY

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

Neuropathology of the Mcoln1−/− Knockout Mouse Model of Mucolipidosis Type IV

(2009) Matthew C. Micsenyi et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

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

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

NPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a step in cholesterol egress from lysosomes

(2008) R. E. Infante et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA