Current Challenges in Understanding the Cellular and Molecular Mechanisms in Niemann–Pick Disease Type C1

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

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

A therapy with miglustat, 2-hydroxypropyl-ß-cyclodextrin and allopregnanolone restores splenic cholesterol homeostasis in Niemann-pick disease type C1

(2019) Anna-Maria Neßlauer et al.   Lipids in Health and Disease

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

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

Crohn’s Disease in Niemann–Pick Disease Type C1: Caught in the Cross-Fire of Host-Microbial Interactions

(2018) Athena Cavounidis et al.   DIGESTIVE DISEASES AND SCIENCES

AAV9 intracerebroventricular gene therapy improves lifespan, locomotor function and pathology in a mouse model of Niemann-Pick type C1 disease

(2018) Michael P Hughes et al.   HUMAN MOLECULAR GENETICS

Evaluation of Two Liver Treatment Strategies in a Mouse Model of Niemann–Pick-Disease Type C1

(2018) Lynn Ebner et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

A pilot study of direct delivery of hydroxypropyl-beta-cyclodextrin to the lung by the nasal route in a mouse model of Niemann-Pick C1 disease: motor performance is unaltered and lung disease is worsened

(2018) Robert P. Erickson et al.   JOURNAL OF APPLIED GENETICS

Pulmonary involvement in Niemann-Pick C type 1

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

Drug for rare disease disappoints in key trial

(2018) Meredith Wadman   SCIENCE

Niemann-Pick disease type C in the newborn period: a single-center experience

(2017) Ersin Gumus et al.   EUROPEAN JOURNAL OF PEDIATRICS

FTY720/fingolimod increases NPC1 and NPC2 expression and reduces cholesterol and sphingolipid accumulation in Niemann-Pick type C mutant fibroblasts

(2017) Jason Newton et al.   FASEB JOURNAL

Overview of immune abnormalities in lysosomal storage disorders

(2017) Donato Rigante et al.   IMMUNOLOGY LETTERS

Increased Regenerative Capacity of the Olfactory Epithelium in Niemann–Pick Disease Type C1

(2017) Anja Meyer et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

AAV9-NPC1 significantly ameliorates Purkinje cell death and behavioral abnormalities in mouse NPC disease

(2017) Chang Xie et al.   JOURNAL OF LIPID RESEARCH

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

A hopeful therapy for Niemann-Pick C diseases

(2017) Robert P Erickson et al.   LANCET

So Much Cholesterol

(2016) Joshua A. Dubland et al.   CURRENT OPINION IN LIPIDOLOGY

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

Systemic AAV9 gene therapy improves the lifespan of mice with Niemann-Pick disease, type C1

(2016) Randy J. Chandler et al.   HUMAN MOLECULAR GENETICS

Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review

(2016) Marie T. Vanier et al.   MOLECULAR GENETICS AND METABOLISM

Defective Cytochrome P450-Catalysed Drug Metabolism in Niemann-Pick Type C Disease

(2016) Elena-Raluca Nicoli et al.   PLoS One

Cyclodextrin promotes atherosclerosis regression via macrophage reprogramming

(2016) Sebastian Zimmer et al.   Science Translational Medicine

β-Cyclodextrins Decrease Cholesterol Release and ABC-Associated Transporter Expression in Smooth Muscle Cells and Aortic Endothelial Cells

(2016) Caroline Coisne et al.   Frontiers in Physiology

Efficacy and ototoxicity of different cyclodextrins in Niemann-Pick C disease

(2016) Cristin D. Davidson et al.   Annals of Clinical and Translational Neurology

Towards a New Diagnostic Standard for Niemann–Pick C Disease

(2016) Xuntian Jiang et al.   EBioMedicine

Susceptibility of outer hair cells to cholesterol chelator 2-hydroxypropyl-β-cyclodextrine is prestin-dependent

(2016) Satoe Takahashi et al.   Scientific Reports

Efficacy of 2-Hydroxypropyl-β-cyclodextrin in Niemann–Pick Disease Type C Model Mice and Its Pharmacokinetic Analysis in a Patient with the Disease

(2015) Yuta Tanaka et al.   BIOLOGICAL & PHARMACEUTICAL BULLETIN

Cholesterol Transport through Lysosome-Peroxisome Membrane Contacts

(2015) Bei-Bei Chu et al.   CELL

High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

(2015) Christopher A. Wassif et al.   GENETICS IN MEDICINE

Electrophysiological characterization of adult-onset Niemann–Pick type C disease

(2015) Rosa Iodice et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Acetyl-dl-leucine in Niemann-Pick type C

(2015) Tatiana Bremova et al.   NEUROLOGY

Visual evoked potentials of Niemann-Pick type C1 mice reveal an impairment of the visual pathway that is rescued by 2-hydroxypropyl-ß-cyclodextrin

(2015) Giampiero Palladino et al.   Orphanet Journal of Rare Diseases

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

Treatment with KLEPTOSE® CRYSMEB reduces mouse atherogenesis by impacting on lipid profile and Th1 lymphocyte response

(2015) Fabrizio Montecucco et al.   VASCULAR PHARMACOLOGY

The phosphorylated prodrug FTY720 is a histone deacetylase inhibitor that reactivates ERα expression and enhances hormonal therapy for breast cancer

(2015) N C Hait et al.   Oncogenesis

Excessive microglial activation aggravates olfactory dysfunction by impeding the survival of newborn neurons in the olfactory bulb of Niemann–Pick disease type C1 mice

(2014) Yoojin Seo et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Dysregulation of Testicular Cholesterol Metabolism Following Spontaneous Mutation of the Niemann-Pick C1 Gene in Mice1

(2014) Casimir D. Akpovi et al.   BIOLOGY OF REPRODUCTION

Defects in the retina of Niemann-pick type C 1 mutant mice

(2014) Xin Yan et al.   BMC NEUROSCIENCE

Hearing Loss is an Early Consequence of Npc1 Gene Deletion in the Mouse Model of Niemann–Pick Disease, Type C

(2014) Kelly A. King et al.   JARO-JOURNAL OF THE ASSOCIATION FOR RESEARCH IN OTOLARYNGOLOGY

Genetic and laboratory diagnostic approach in Niemann Pick disease type C

(2014) K. McKay Bounford et al.   JOURNAL OF NEUROLOGY

Reduced cerebellar neurodegeneration after combined therapy with cyclodextrin/allopregnanolone and miglustat in NPC1: A mouse model of Niemann-Pick type C1 disease

(2014) Fabian Maass et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Improved neuroprotection using miglustat, curcumin and ibuprofen as a triple combination therapy in Niemann–Pick disease type C1 mice

(2014) Ian M. Williams et al.   NEUROBIOLOGY OF DISEASE

Olfactory Deficits in Niemann-Pick Type C1 (NPC1) Disease

(2014) Marina Hovakimyan et al.   PLoS One

NPC1, intracellular cholesterol trafficking and atherosclerosis

(2013) Xiao-Hua Yu et al.   CLINICA CHIMICA ACTA

Auditory Phenotype of Niemann-Pick Disease, Type C1

(2013) Kelly A. King et al.   EAR AND HEARING

The potential of histone deacetylase inhibitors in Niemann - Pick type C disease

(2013) Michael Maceyka et al.   FEBS Journal

The C57BL/6J Niemann–Pick C1 mouse model with decreased gene dosage has impaired glucose tolerance independent of body weight

(2013) David Jelinek et al.   GENE

Electrodiagnostic Testing and Histopathologic Changes Confirm Peripheral Nervous System Myelin Abnormalities in the Feline Model of Niemann-Pick Disease Type C

(2013) Jessica H. Bagel et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Combined therapy with cyclodextrin/allopregnanolone and miglustat improves motor but not cognitive functions in Niemann–Pick Type C1 mice

(2013) M. Hovakimyan et al.   NEUROSCIENCE

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

(2013) Paul Helquist et al.   Neurotherapeutics

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

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

Oxidative stress in Niemann-Pick type C patients: a protective role of N-butyl-deoxynojirimycin therapy

(2012) Graziela S. Ribas et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE

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

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

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

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

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

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

Detection of coronary atherosclerotic plaques with superficial proteoglycans and foam cells using real-time intrinsic fluorescence spectroscopy

(2010) George O. Angheloiu et al.   ATHEROSCLEROSIS

Defective cholesterol trafficking in Niemann-Pick C-deficient cells

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

Expression ofNpc1 in Glial Cells Corrects Sterility inNpc1 -/- mice

(2010) C. Donohue et al.   JOURNAL OF APPLIED GENETICS

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

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

Hsp70 stabilizes lysosomes and reverts Niemann–Pick disease-associated lysosomal pathology

(2010) Thomas Kirkegaard et al.   NATURE

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

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

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

The clinical spectrum of fetal Niemann-Pick type C

(2009) Ronen Spiegel et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes

(2009) William S. Garver et al.   JOURNAL OF LIPID RESEARCH

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

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

Saccades in adult Niemann-Pick disease type C reflect frontal, brainstem, and biochemical deficits

(2009) L. A. Abel et al.   NEUROLOGY

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

Substrate reduction therapy

(2008) Frances M Platt et al.   ACTA PAEDIATRICA

The structure and function of Niemann???Pick C1-like 1 protein

(2008) Liqing Yu   CURRENT OPINION IN LIPIDOLOGY

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