Understanding and Treating Niemann–Pick Type C Disease: Models Matter
Published 2020 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Understanding and Treating Niemann–Pick Type C Disease: Models Matter
Authors
Keywords
-
Journal
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Volume 21, Issue 23, Pages 8979
Publisher
MDPI AG
Online
2020-11-26
DOI
10.3390/ijms21238979
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Iron chelation by deferiprone does not rescue the Niemann-Pick Disease Type C1 mouse model
- (2020) Ya Hui Hung et al. BIOMETALS
- 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
- Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease
- (2020) Rohini Sidhu et al. MOLECULAR GENETICS AND METABOLISM
- High‐content imaging and structure‐based predictions reveal functional differences between Niemann‐Pick C1 variants
- (2020) Lauri Vanharanta et al. TRAFFIC
- Cytosine and adenine base editing of the brain, liver, retina, heart and skeletal muscle of mice via adeno-associated viruses
- (2020) Jonathan M. Levy et al. Nature Biomedical Engineering
- Mechanism of Secondary Ganglioside and Lipid Accumulation in Lysosomal Disease
- (2020) Bernadette Breiden et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Complement Component C3 Participates in Early Stages of Niemann–Pick C Mouse Liver Damage
- (2020) Andrés D. Klein et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Evaluation of the Potential Role of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in Niemann–Pick Disease, Type C1
- (2020) Niamh X. Cawley et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Correction of Niemann-Pick type C1 trafficking and activity with the histone deacetylase inhibitor valproic acid
- (2020) Kanagaraj Subramanian et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Long‐term survival outcomes of patients with Niemann‐Pick disease type C receiving miglustat treatment: A large retrospective observational study
- (2020) Marc C. Patterson et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Sex‐opposed inflammatory effects of 27‐hydroxycholesterol are mediated via differences in estrogen signaling
- (2020) T Houben et al. JOURNAL OF PATHOLOGY
- Imaging of neuroinflammation in adult Niemann-Pick type C disease
- (2020) Mark Walterfang et al. NEUROLOGY
- In vitro Models of Neurodegenerative Diseases
- (2020) Anna Slanzi et al. Frontiers in Cell and Developmental Biology
- Challenges of in vitro genome editing with CRISPR/Cas9 and possible solutions: A review
- (2020) Vida Ebrahimi et al. GENE
- Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease
- (2020) Berna Seker Yilmaz et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Identification of Brain-Specific Treatment Effects in NPC1 Disease by Focusing on Cellular and Molecular Changes of Sphingosine-1-Phosphate Metabolism
- (2020) Anne Gläser et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Single Cell Transcriptome Analysis of Niemann–Pick Disease, Type C1 Cerebella
- (2020) Antony Cougnoux et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Proteotoxicity and Neurodegenerative Diseases
- (2020) Clara Ruz et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Haploinsufficiency of tau decreases survival of the mouse model of Niemann–Pick disease type C1 but does not alter tau phosphorylation
- (2020) Angela F. Smith et al. JOURNAL OF APPLIED GENETICS
- Human organoids: model systems for human biology and medicine
- (2020) Jihoon Kim et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- Pluripotent stem cell-derived retinal organoids for disease modeling and development of therapies
- (2020) Kamil Kruczek et al. STEM CELLS
- Cholesterol Handling in Lysosomes and Beyond
- (2020) Ying Meng et al. TRENDS IN CELL BIOLOGY
- Plasmid DNA gene therapy of the Niemann-Pick C1 mouse with transferrin receptor-targeted Trojan horse liposomes
- (2020) Dahai Jiang et al. Scientific Reports
- Pre-clinical Mouse Models of Neurodegenerative Lysosomal Storage Diseases
- (2020) Jacob M. Favret et al. Frontiers in Molecular Biosciences
- Impact of Sex and Age on the Mevalonate Pathway in the Brain: A Focus on Effects Induced by Maternal Exposure to Exogenous Compounds
- (2020) Claudia Tonini et al. Metabolites
- Unbiased yeast screens identify cellular pathways affected in Niemann–Pick disease type C
- (2020) Alexandria Colaco et al. Life Science Alliance
- Pluripotent Stem Cell-Based Cell Therapy—Promise and Challenges
- (2020) Shinya Yamanaka Cell Stem Cell
- Sex and gender: modifiers of health, disease, and medicine
- (2020) Franck Mauvais-Jarvis et al. LANCET
- Acquired genetic changes in human pluripotent stem cells: origins and consequences
- (2020) Jason Halliwell et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- Molecular basis for a new bovine model of Niemann-Pick type C disease
- (2020) Shernae A. Woolley et al. PLoS One
- Generation of Common Marmoset Model Lines of Spinocerebellar Ataxia Type 3
- (2020) Ikuo Tomioka et al. Frontiers in Neuroscience
- Fbxo2 mediates clearance of damaged lysosomes and modifies neurodegeneration in the Niemann-Pick C brain
- (2020) Elaine A. Liu et al. JCI Insight
- A Great Catch for Investigating Inborn Errors of Metabolism—Insights Obtained from Zebrafish
- (2020) Maximilian Breuer et al. Biomolecules
- Delineation of metabolic responses of Npc1 mice lacking the cholesterol-esterifying enzyme SOAT2 to acute treatment with 2-hydroxypropyl-β-cyclodextrin
- (2020) Charina M. Ramirez et al. STEROIDS
- Psychiatric and Cognitive Symptoms Associated with Niemann-Pick Type C Disease: Neurobiology and Management
- (2019) Thomas Rego et al. CNS DRUGS
- Pneumococcal Immunization Reduces Neurological and Hepatic Symptoms in a Mouse Model for Niemann-Pick Type C1 Disease
- (2019) Tom Houben et al. Frontiers in Immunology
- Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective chart review
- (2019) Mercedes Pineda et al. Orphanet Journal of Rare Diseases
- Mitophagy inhibits amyloid-β and tau pathology and reverses cognitive deficits in models of Alzheimer’s disease
- (2019) Evandro F. Fang et al. NATURE NEUROSCIENCE
- Increased synapse elimination by microglia in schizophrenia patient-derived models of synaptic pruning
- (2019) Carl M. Sellgren et al. NATURE NEUROSCIENCE
- Evaluation of age of death in Niemann-Pick disease, type C: Utility of disease support group websites to understand natural history
- (2019) Simona E. Bianconi et al. MOLECULAR GENETICS AND METABOLISM
- Cyclodextrin triggers MCOLN1-dependent endo-lysosome secretion in Niemann-Pick type C cells
- (2019) Fabrizio Vacca et al. JOURNAL OF LIPID RESEARCH
- NPC intracellular cholesterol transporter 1 (NPC1)-mediated cholesterol export from lysosomes
- (2019) Suzanne R. Pfeffer JOURNAL OF BIOLOGICAL CHEMISTRY
- In Vitro and In Vivo Evaluation of 6-O-α-Maltosyl-β-Cyclodextrin as a Potential Therapeutic Agent Against Niemann-Pick Disease Type C
- (2019) Nushrat Yasmin et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Sex Differences in NAFLD : State of the Art and Identification of Research Gaps
- (2019) Amedeo Lonardo et al. HEPATOLOGY
- Animal models for Niemann-Pick type C: implications for drug discovery & development
- (2019) Cathrine K. Fog et al. Expert Opinion on Drug Discovery
- 2-Hydroxypropyl-β-cyclodextrin is the active component in a triple combination formulation for treatment of Niemann-Pick C1 disease
- (2019) Jessica Davidson et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS
- Drug‐induced increase in lysobisphosphatidic acid reduces the cholesterol overload in Niemann–Pick type C cells and mice
- (2019) Dimitri Moreau et al. EMBO REPORTS
- New models for human disease from the International Mouse Phenotyping Consortium
- (2019) Pilar Cacheiro et al. MAMMALIAN GENOME
- Characterization of the Subventricular-Thalamo-Cortical Circuit in the NP-C Mouse Brain, and New Insights Regarding Treatment
- (2019) Min Hee Park et al. MOLECULAR THERAPY
- Laboratory diagnosis of the Niemann-Pick type C disease: an inherited neurodegenerative disorder of cholesterol metabolism
- (2019) Dominika Sitarska et al. METABOLIC BRAIN DISEASE
- Adenosine A2A receptor stimulation restores cell functions and differentiation in Niemann-Pick type C-like oligodendrocytes
- (2019) Chiara De Nuccio et al. Scientific Reports
- Lipid Antigen Presentation by CD1b and CD1d in Lysosomal Storage Disease Patients
- (2019) Catia S. Pereira et al. Frontiers in Immunology
- The complexity of a monogenic neurodegenerative disease: More than two decades of therapeutic driven research into Niemann-Pick type C disease
- (2019) Natalie Hammond et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS
- The Drosophila Malpighian tubule as a model for mammalian tubule function
- (2019) Aylin R. Rodan CURRENT OPINION IN NEPHROLOGY AND HYPERTENSION
- NPC 1 enables cholesterol mobilization during long‐term potentiation that can be restored in Niemann–Pick disease type C by CYP 46A1 activation
- (2019) Daniel N Mitroi et al. EMBO REPORTS
- Large animal models contribute to the development of therapies for central and peripheral nervous system dysfunction in patients with lysosomal storage diseases
- (2019) Brittney L Gurda et al. HUMAN MOLECULAR GENETICS
- Current Challenges in Understanding the Cellular and Molecular Mechanisms in Niemann–Pick Disease Type C1
- (2019) Anja U. Bräuer et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Animal Models Reflecting Chronic Obstructive Pulmonary Disease and Related Respiratory Disorders: Translating Pre-Clinical Data into Clinical Relevance
- (2019) Lloyd Tanner et al. Journal of Innate Immunity
- Diurnal rodents as pertinent animal models of human retinal physiology and pathology
- (2019) Daniela M. Verra et al. PROGRESS IN RETINAL AND EYE RESEARCH
- Synthetic high-density lipoprotein nanoparticles for the treatment of Niemann–Pick diseases
- (2019) Mark L. Schultz et al. BMC Medicine
- Structural Insight into Eukaryotic Sterol Transport through Niemann-Pick Type C Proteins
- (2019) Mikael B.L. Winkler et al. CELL
- Modeling Niemann–Pick disease type C in a human haploid cell line allows for patient variant characterization and clinical interpretation
- (2019) Steven Erwood et al. GENOME RESEARCH
- Microcirculatory Changes in Experimental Models of Stroke and CNS-Injury Induced Immunodepression
- (2019) Sarah Lunardi Baccetto et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Structural Determination of Lysosphingomyelin-509 and Discovery of Novel Class Lipids from Patients with Niemann–Pick Disease Type C
- (2019) Maekawa et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Niemann–Pick type C disease: cellular pathology and pharmacotherapy
- (2019) Simon Wheeler et al. JOURNAL OF NEUROCHEMISTRY
- The chinchilla animal model for hearing science and noise-induced hearing loss
- (2019) Monica Trevino et al. JOURNAL OF THE ACOUSTICAL SOCIETY OF AMERICA
- Maternal immune activation modifies the course of Niemann-pick disease, type C1 in a gender specific manner
- (2019) Antony Cougnoux et al. MOLECULAR GENETICS AND METABOLISM
- Increased interactions and engulfment of dendrites by microglia precede Purkinje cell degeneration in a mouse model of Niemann Pick Type-C
- (2019) Larisa Kavetsky et al. Scientific Reports
- Pharmacokinetics and distribution of 2‐hydroxypropyl‐β‐cyclodextrin following a single intrathecal dose to cats
- (2019) Mark L. Kao et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Loss of amyloid precursor protein exacerbates early inflammation in Niemann-Pick disease type C
- (2019) Samuel D. Shin et al. Journal of Neuroinflammation
- Mechanisms and regulation of cholesterol homeostasis
- (2019) Jie Luo et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- Generation of the Niemann–Pick type C2 patient-derived iPSC line AKOSi001-A
- (2019) Christin Völkner et al. Stem Cell Research
- 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
- Model construction of Niemann-Pick type C disease in zebrafish
- (2018) Yusheng Lin et al. BIOLOGICAL CHEMISTRY
- Gastrointestinal Tract Pathology in a BALB/c Niemann–Pick Disease Type C1 Null Mouse Model
- (2018) Antony Cougnoux et al. DIGESTIVE DISEASES AND SCIENCES
- The Extending Spectrum of NPC1-Related Human Disorders: From Niemann–Pick C1 Disease to Obesity
- (2018) Amel Lamri et al. ENDOCRINE REVIEWS
- Attenuation of the Niemann-Pick type C2 disease phenotype by intracisternal administration of an AAVrh.10 vector expressing Npc2
- (2018) Sandra Markmann et al. EXPERIMENTAL NEUROLOGY
- In Niemann-Pick C1 mouse models, glial-only expression of the normal gene extends survival much further than do changes in genetic background or treatment with hydroxypropyl-beta-cyclodextrin
- (2018) Craig A. Marshall et al. GENE
- Microglia activation in Niemann–Pick disease, type C1 is amendable to therapeutic intervention
- (2018) Antony Cougnoux et al. HUMAN MOLECULAR GENETICS
- High-content screen for modifiers of Niemann-Pick type C disease in patient cells
- (2018) Emily K Pugach et al. HUMAN MOLECULAR GENETICS
- 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
- Animal and model systems for studying cystic fibrosis
- (2018) Bradley H. Rosen et al. Journal of Cystic Fibrosis
- Lovastatin promotes myelin formation in NPC1 mutant oligodendrocytes
- (2018) Fan Yang et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- The adenosine A 2A receptor agonist T1–11 ameliorates neurovisceral symptoms and extends the lifespan of a mouse model of Niemann-Pick type C disease
- (2018) Antonella Ferrante et al. NEUROBIOLOGY OF DISEASE
- Consensus clinical management guidelines for Niemann-Pick disease type C
- (2018) Tarekegn Geberhiwot et al. Orphanet Journal of Rare Diseases
- Long-Term Treatment of Niemann-Pick Type C1 Disease With Intrathecal 2-Hydroxypropyl-β-Cyclodextrin
- (2018) Elizabeth Berry-Kravis et al. PEDIATRIC NEUROLOGY
- Systematic review of psychiatric signs in Niemann-Pick disease type C
- (2018) Olivier Bonnot et al. WORLD JOURNAL OF BIOLOGICAL PSYCHIATRY
- Endocannabinoids in Caenorhabditis elegans are essential for the mobilization of cholesterol from internal reserves
- (2018) Celina Galles et al. Scientific Reports
- A Drosophila Model of Essential Tremor
- (2018) Philip Smith et al. Scientific Reports
- Linear Cyclodextrin Polymer Prodrugs as Novel Therapeutics for Niemann-Pick Type C1 Disorder
- (2018) Aditya Kulkarni et al. Scientific Reports
- Modeling Parkinson’s Disease in C. elegans
- (2018) Jason F. Cooper et al. Journal of Parkinsons Disease
- Modeling Niemann-Pick disease type C1 in zebrafish: a robust platform forin vivoscreening of candidate therapeutic compounds
- (2018) Wei-Chia Tseng et al. Disease Models & Mechanisms
- Pulmonary involvement in Niemann-Pick C type 1
- (2018) Orna Staretz-Chacham et al. EUROPEAN JOURNAL OF PEDIATRICS
- Niemann-Pick C1 Mice, a Model of “Juvenile Alzheimer's Disease”, with Normal Gene Expression in Neurons and Fibrillary Astrocytes Show Long Term Survival and Delayed Neurodegeneration
- (2018) Ivan Borbon et al. JOURNAL OF ALZHEIMERS DISEASE
- Miglustat in Niemann-Pick disease type C patients: a review
- (2018) Mercè Pineda et al. Orphanet Journal of Rare Diseases
- Gadolinium Chloride Rescues Niemann–Pick Type C Liver Damage
- (2018) Andrés Klein et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Necroptosis inhibition as a therapy for Niemann-Pick disease, type C1: Inhibition of RIP kinases and combination therapy with 2-hydroxypropyl-β-cyclodextrin
- (2018) A. Cougnoux et al. MOLECULAR GENETICS AND METABOLISM
- Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect
- (2018) Yann Nadjar et al. Orphanet Journal of Rare Diseases
- 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
- Suppression of SNARE-dependent exocytosis in retinal glial cells and its effect on ischemia-induced neurodegeneration
- (2017) Lysann Wagner et al. GLIA
- A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments
- (2017) Jérôme Stirnemann et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Current status and perspectives of patient-derived xenograft models in cancer research
- (2017) Yunxin Lai et al. Journal of Hematology & Oncology
- AAV9-NPC1 significantly ameliorates Purkinje cell death and behavioral abnormalities in mouse NPC disease
- (2017) Chang Xie et al. JOURNAL OF LIPID RESEARCH
- Precision Medicine in Cats: Novel Niemann-Pick Type C1 Diagnosed by Whole-Genome Sequencing
- (2017) D.A. Mauler et al. JOURNAL OF VETERINARY INTERNAL MEDICINE
- Hepatitis C Virus Replication Depends on Endosomal Cholesterol Homeostasis
- (2017) Ina Karen Stoeck et al. JOURNAL OF VIROLOGY
- 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 Analysis of the Proteome Response to the Histone Deacetylase Inhibitor (HDACi) Vorinostat in Niemann-Pick Type C1 disease
- (2017) Kanagaraj Subramanian et al. MOLECULAR & CELLULAR PROTEOMICS
- Differences in Niemann-Pick disease Type C symptomatology observed in patients of different ages
- (2017) Eugen Mengel et al. MOLECULAR GENETICS AND METABOLISM
- Phosphorylated glycosphingolipids essential for cholesterol mobilization in Caenorhabditis elegans
- (2017) Sebastian Boland et al. Nature Chemical Biology
- Emptying the stores: lysosomal diseases and therapeutic strategies
- (2017) Frances M. Platt NATURE REVIEWS DRUG DISCOVERY
- Human Astrocyte Maturation Captured in 3D Cerebral Cortical Spheroids Derived from Pluripotent Stem Cells
- (2017) Steven A. Sloan et al. NEURON
- Diverse Requirements for Microglial Survival, Specification, and Function Revealed by Defined-Medium Cultures
- (2017) Christopher J. Bohlen et al. NEURON
- Mechanistic Pathways of Sex Differences in Cardiovascular Disease
- (2017) Vera Regitz-Zagrosek et al. PHYSIOLOGICAL REVIEWS
- 3.3 Å structure of Niemann–Pick C1 protein reveals insights into the function of the C-terminal luminal domain in cholesterol transport
- (2017) Xiaochun Li et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Lysosomal cholesterol activates mTORC1 via an SLC38A9–Niemann-Pick C1 signaling complex
- (2017) Brian M. Castellano et al. SCIENCE
- Generation of patient specific human neural stem cells from Niemann-Pick disease type C patient-derived fibroblasts
- (2017) Eun-Ah Sung et al. Oncotarget
- A novel approach to analyze lysosomal dysfunctions through subcellular proteomics and lipidomics: the case of NPC1 deficiency
- (2017) Arun Kumar Tharkeshwar et al. Scientific Reports
- The GARP Complex Is Involved in Intracellular Cholesterol Transport via Targeting NPC2 to Lysosomes
- (2017) Jian Wei et al. Cell Reports
- Oxysterol-Binding Protein-Related Protein 1L Regulates Cholesterol Egress from the Endo-Lysosomal System
- (2017) Kexin Zhao et al. Cell Reports
- Niemann-Pick type C proteins promote microautophagy by expanding raft-like membrane domains in the yeast vacuole
- (2017) Takuma Tsuji et al. eLife
- Intracellular Cholesterol Trafficking and Impact in Neurodegeneration
- (2017) Fabian Arenas et al. Frontiers in Molecular Neuroscience
- Mitochondrial GSH replenishment as a potential therapeutic approach for Niemann Pick type C disease
- (2017) Sandra Torres et al. Redox Biology
- New murine Niemann-Pick type C models bearing a pseudoexon-generating mutation recapitulate the main neurobehavioural and molecular features of the disease
- (2017) Marta Gómez-Grau et al. Scientific Reports
- Hepatic Primary and Secondary Cholesterol Deposition and Damage in Niemann-Pick Disease
- (2016) Marta Bosch et al. AMERICAN JOURNAL OF PATHOLOGY
- Plant transcriptomes reveal hidden guests
- (2016) Jiao Zhu et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
- Neuronal gene repression in Niemann–Pick type C models is mediated by the c-Abl/HDAC2 signaling pathway
- (2016) Pablo S. Contreras et al. Biochimica et Biophysica Acta-Gene Regulatory Mechanisms
- Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection
- (2016) Xin Gong et al. CELL
- LDL–cholesterol transport to the endoplasmic reticulum
- (2016) Simon G. Pfisterer et al. CURRENT OPINION IN LIPIDOLOGY
- A Drosophila Genome-Wide Screen Identifies Regulators of Steroid Hormone Production and Developmental Timing
- (2016) E. Thomas Danielsen et al. DEVELOPMENTAL CELL
- Using the mouse to model human disease: increasing validity and reproducibility
- (2016) Monica J. Justice et al. Disease Models & Mechanisms
- Cathepsin S contributes to microglia-mediated olfactory dysfunction through the regulation of Cx3cl1-Cx3cr1 axis in a Niemann-Pick disease type C1 model
- (2016) Yoojin Seo et al. GLIA
- Systemic AAV9 gene therapy improves the lifespan of mice with Niemann-Pick disease, type C1
- (2016) Randy J. Chandler et al. HUMAN MOLECULAR GENETICS
- Niemann–Pick type C: focus on the adolescent/adult onset form
- (2016) Vincenzo Di Lazzaro et al. INTERNATIONAL JOURNAL OF NEUROSCIENCE
- 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
- Transgenic overexpression of Niemann-Pick C2 protein promotes cholesterol gallstone formation in mice
- (2016) Mariana Acuña et al. JOURNAL OF HEPATOLOGY
- Reversal of Pathologic Lipid Accumulation in NPC1-Deficient Neurons by Drug-Promoted Release of LAMP1-Coated Lamellar Inclusions
- (2016) Valérie Demais et al. JOURNAL OF NEUROSCIENCE
- Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review
- (2016) Marie T. Vanier et al. MOLECULAR GENETICS AND METABOLISM
- Screening out irrelevant cell-based models of disease
- (2016) Peter Horvath et al. NATURE REVIEWS DRUG DISCOVERY
- Structure of human Niemann–Pick C1 protein
- (2016) Xiaochun Li et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Chronic administration of an HDAC inhibitor treats both neurological and systemic Niemann-Pick type C disease in a mouse model
- (2016) Md. Suhail Alam et al. Science Translational Medicine
- Development of a bile acid–based newborn screen for Niemann-Pick disease type C
- (2016) Xuntian Jiang et al. Science Translational Medicine
- Heat shock protein–based therapy as a potential candidate for treating the sphingolipidoses
- (2016) Thomas Kirkegaard et al. Science Translational Medicine
- Necroptosis in Niemann–Pick disease, type C1: a potential therapeutic target
- (2016) A Cougnoux et al. Cell Death & Disease
- The microRNA expression profile of mouse Müller glia in vivo and in vitro
- (2016) Stefanie G. Wohl et al. Scientific Reports
- PEG-lipid micelles enable cholesterol efflux in Niemann-Pick Type C1 disease-based lysosomal storage disorder
- (2016) Anna Brown et al. Scientific Reports
- Heat Shock Protein Beta-1 Modifies Anterior to Posterior Purkinje Cell Vulnerability in a Mouse Model of Niemann-Pick Type C Disease
- (2016) Chan Chung et al. PLoS Genetics
- EhNPC1 and EhNPC2 Proteins Participate in Trafficking of Exogenous Cholesterol in Entamoeba histolytica Trophozoites: Relevance for Phagocytosis
- (2016) Jeni Bolaños et al. PLoS Pathogens
- Efficacy and ototoxicity of different cyclodextrins in Niemann-Pick C disease
- (2016) Cristin D. Davidson et al. Annals of Clinical and Translational Neurology
- Susceptibility of outer hair cells to cholesterol chelator 2-hydroxypropyl-β-cyclodextrine is prestin-dependent
- (2016) Satoe Takahashi et al. Scientific Reports
- Modeling autism-relevant behavioral phenotypes in rats and mice
- (2015) Michela Servadio et al. BEHAVIOURAL PHARMACOLOGY
- Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database
- (2015) Jackie Imrie et al. BMC Neurology
- The armadillo as an animal model and reservoir host for Mycobacterium leprae
- (2015) Gayathriy Balamayooran et al. CLINICS IN DERMATOLOGY
- 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
- APP overexpression in the absence of NPC1 exacerbates metabolism of amyloidogenic proteins of Alzheimer's disease
- (2015) Mahua Maulik et al. HUMAN MOLECULAR GENETICS
- Immune dysfunction in Niemann-Pick disease type C
- (2015) Nick Platt et al. JOURNAL OF NEUROCHEMISTRY
- 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
- A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease
- (2015) Anne-Katrin Giese et al. Orphanet Journal of Rare Diseases
- Misexpression of the Niemann-Pick disease type C1 (NPC1)-like protein in Arabidopsis causes sphingolipid accumulation and reproductive defects
- (2015) Maximilian J. Feldman et al. PLANTA
- Small-molecule enhancers of autophagy modulate cellular disease phenotypes suggested by human genetics
- (2015) Szu-Yu Kuo et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- 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
- Rescue of an In Vitro Neuron Phenotype Identified in Niemann-Pick Disease, Type C1 Induced Pluripotent Stem Cell-Derived Neurons by Modulating the WNT Pathway and Calcium Signaling
- (2015) Anastasia G. Efthymiou et al. Stem Cells Translational Medicine
- Identification of NPC1 as the target of U18666A, an inhibitor of lysosomal cholesterol export and Ebola infection
- (2015) Feiran Lu et al. eLife
- Reducing GBA2 Activity Ameliorates Neuropathology in Niemann-Pick Type C Mice
- (2015) André R. A. Marques et al. PLoS One
- Psychiatric Disorders: Diagnosis to Therapy
- (2014) John H. Krystal et al. CELL
- Review: A History of Cyclodextrins
- (2014) Grégorio Crini CHEMICAL REVIEWS
- Cholesterol in brain disease: sometimes determinant and frequently implicated
- (2014) M. G. Martin et al. EMBO REPORTS
- Endoplasmic Reticulum-associated Degradation of Niemann-Pick C1
- (2014) Naoe Nakasone et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Phenotypic heterogeneity of Niemann–Pick disease type C in monozygotic twins
- (2014) Alberto Benussi et al. JOURNAL OF NEUROLOGY
- Donepezil Enhances Purkinje Cell Survival and Alleviates Motor Dysfunction by Inhibiting Cholesterol Synthesis in a Murine Model of Niemann Pick Disease Type C
- (2014) Yoojin Seo et al. JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
- Hepatic metabolic response to restricted copper intake in a Niemann–Pick C murine model
- (2014) Graciela Argüello et al. Metallomics
- Relevance of neuronal and glial NPC1 for synaptic input to cerebellar Purkinje cells
- (2014) Isabelle Buard et al. MOLECULAR AND CELLULAR NEUROSCIENCE
- Inhibition of GM3 Synthase Attenuates Neuropathology of Niemann-Pick Disease Type C by Affecting Sphingolipid Metabolism
- (2014) Hyun Lee et al. MOLECULES AND CELLS
- 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
- The autophagic defect in Niemann–Pick disease type C neurons differs from somatic cells and reduces neuronal viability
- (2014) Volker Meske et al. NEUROBIOLOGY OF DISEASE
- The natural history of cerebellar degeneration of Niemann-Pick C mice monitoredin vitro
- (2014) Nils Marschalek et al. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
- Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years
- (2014) Helena Jahnova et al. Orphanet Journal of Rare Diseases
- Potential Pitfalls and Solutions for Use of Fluorescent Fusion Proteins to Study the Lysosome
- (2014) Ling Huang et al. PLoS One
- Characterization of a Spontaneous Novel Mutation in the NPC2 Gene in a Cat Affected by Niemann Pick Type C Disease
- (2014) Stefania Zampieri et al. PLoS One
- Pathological roles of the VEGF/SphK pathway in Niemann–Pick type C neurons
- (2014) Hyun Lee et al. Nature Communications
- Vitamin E Dietary Supplementation Improves Neurological Symptoms and Decreases c-Abl/p73 Activation in Niemann-Pick C Mice
- (2014) Tamara Marín et al. Nutrients
- Genetic and Chemical Correction of Cholesterol Accumulation and Impaired Autophagy in Hepatic and Neural Cells Derived from Niemann-Pick Type C Patient-Specific iPS Cells
- (2014) Dorothea Maetzel et al. Stem Cell Reports
- 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
- Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann–Pick disease, type C1
- (2013) Rao Fu et al. HUMAN MOLECULAR GENETICS
- Effects of four antitussives on airway neurogenic inflammation in a guinea pig model of chronic cough induced by cigarette smoke exposure
- (2013) Yu-long Luo et al. INFLAMMATION RESEARCH
- Analysis of the protein network of cholesterol homeostasis in different brain regions: An age and sex dependent perspective
- (2013) Marco Segatto et al. JOURNAL OF CELLULAR PHYSIOLOGY
- 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
- 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
- Drosophila melanogaster as a model organism for Alzheimer’s disease
- (2013) Katja Prüßing et al. Molecular Neurodegeneration
- Rare-disease genetics in the era of next-generation sequencing: discovery to translation
- (2013) Kym M. Boycott et al. NATURE REVIEWS GENETICS
- 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
- Niemann-Pick disease type C symptomatology: an expert-based clinical description
- (2013) Eugen Mengel et al. Orphanet Journal of Rare Diseases
- 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
- Pathophysiology of Human Visceral Obesity: An Update
- (2013) André Tchernof et al. PHYSIOLOGICAL REVIEWS
- Alterations in Gene Expression in Mutant Amyloid Precursor Protein Transgenic Mice Lacking Niemann-Pick Type C1 Protein
- (2013) Mahua Maulik et al. PLoS One
- 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
- Spermatozoa from mice deficient in Niemann-Pick disease type C2 (NPC2) protein have defective cholesterol content and reduced in vitro fertilising ability
- (2013) Dolores Busso et al. REPRODUCTION FERTILITY AND DEVELOPMENT
- Impaired Autophagy in the Lipid-Storage Disorder Niemann-Pick Type C1 Disease
- (2013) Sovan Sarkar et al. Cell Reports
- 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
- Invariant natural killer T cells are not affected by lysosomal storage in patients with Niemann-Pick disease type C
- (2012) Anneliese O. Speak et al. EUROPEAN JOURNAL OF IMMUNOLOGY
- 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
- NPC1 defect results in abnormal platelet formation and function: studies in Niemann–Pick disease type C1 patients and zebrafish
- (2012) Sophie Louwette 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
- δ-Tocopherol Reduces Lipid Accumulation in Niemann-Pick Type C1 and Wolman Cholesterol Storage Disorders
- (2012) Miao Xu et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- 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
- Iminosugar-based inhibitors of glucosylceramide synthase prolong survival but paradoxically increase brain glucosylceramide levels in Niemann–Pick C mice
- (2012) Jennifer B. Nietupski et al. MOLECULAR GENETICS AND METABOLISM
- Quantitative Comparison of the Efficacy of Various Compounds in Lowering Intracellular Cholesterol Levels in Niemann-Pick Type C Fibroblasts
- (2012) Zachary T. Wehrmann et al. PLoS One
- Loss of Niemann Pick type C proteins 1 and 2 greatly enhances HIV infectivity and is associated with accumulation of HIV Gag and cholesterol in late endosomes/lysosomes
- (2012) Ebony M Coleman et al. Virology Journal
- Npc1 deficiency in the C57BL/6J genetic background enhances Niemann–Pick disease type C spleen pathology
- (2011) Julio Parra et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
- 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
- A High-Cholesterol Diet Exacerbates Liver Fibrosis in Mice via Accumulation of Free Cholesterol in Hepatic Stellate Cells
- (2011) Toshiaki Teratani et al. GASTROENTEROLOGY
- Genetic approaches to study glial cells in the rodent brain
- (2011) Frank W. Pfrieger et al. GLIA
- 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
- Requirement of Npc1 and availability of cholesterol for early embryonic cell movements in zebrafish
- (2011) Tyler Schwend et al. JOURNAL OF LIPID RESEARCH
- Altered vitamin E status in Niemann-Pick type C disease
- (2011) L. Ulatowski et al. JOURNAL OF LIPID RESEARCH
- 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
- Small molecule inhibitors reveal Niemann–Pick C1 is essential for Ebola virus infection
- (2011) Marceline Côté et al. NATURE
- Ebola virus entry requires the cholesterol transporter Niemann–Pick C1
- (2011) Jan E. Carette et al. NATURE
- Development of a Method for the Purification and Culture of Rodent Astrocytes
- (2011) Lynette C. Foo et al. NEURON
- Lack of efficacy of curcumin on neurodegeneration in the mouse model of Niemann–Pick C1
- (2011) Ivan A. Borbon et al. PHARMACOLOGY BIOCHEMISTRY AND BEHAVIOR
- Drosophila Melanogaster as a Model System for Studies of Islet Amyloid Polypeptide Aggregation
- (2011) Sebastian Wolfgang Schultz et al. PLoS One
- 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
- Cholesterol metabolism in neurons and astrocytes
- (2011) Frank W. Pfrieger et al. PROGRESS IN LIPID RESEARCH
- Evaluating the rewarding nature of social interactions in laboratory animals
- (2011) Viviana Trezza et al. Developmental Cognitive Neuroscience
- Adipose tissue-derived stem cells rescue Purkinje neurons and alleviate inflammatory responses in Niemann-Pick disease type C mice
- (2010) Jae-sung Bae et al. CELL AND TISSUE RESEARCH
- 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
- Exosome Secretion Ameliorates Lysosomal Storage of Cholesterol in Niemann-Pick Type C Disease
- (2010) Katrin Strauss et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Somatic Cell Plasticity and Niemann-Pick Type C2 Protein
- (2010) Chad Csepeggi et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- The neuroprotective effects of cyclin-dependent kinase-5 inhibition in mice with Niemann-Pick disease type C
- (2010) Youguo Hao et al. Journal of Huazhong University of Science and Technology-Medical Sciences
- Glycosphingolipid storage leads to the enhanced degradation of the B cell receptor in Sandhoff disease mice
- (2010) Danielle te Vruchte et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Pre-synaptic defects of NPC1-deficient hippocampal neurons are not directly related to plasma membrane cholesterol
- (2010) Cory M. Hawes et al. JOURNAL OF NEUROCHEMISTRY
- Human Umbilical Cord Blood-Derived Mesenchymal Stem Cells Improve Neurological Abnormalities of Niemann-Pick Type C Mouse by Modulation of Neuroinflammatory Condition
- (2010) Hyun LEE et al. JOURNAL OF VETERINARY MEDICAL SCIENCE
- Cyclodextrin Induces Calcium-Dependent Lysosomal Exocytosis
- (2010) Fannie W. Chen et al. PLoS One
- 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
- Selective Visualization of Fluorescent Sterols in Caenorhabditis elegans by Bleach-Rate-Based Image Segmentation
- (2010) Daniel Wüstner et al. TRAFFIC
- The clinical spectrum of fetal Niemann-Pick type C
- (2009) Ronen Spiegel et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Structure of N-Terminal Domain of NPC1 Reveals Distinct Subdomains for Binding and Transfer of Cholesterol
- (2009) Hyock Joo Kwon et al. CELL
- Identification of Cholesterol-Regulating Genes by Targeted RNAi Screening
- (2009) Fabian Bartz et al. Cell Metabolism
- Conditional Niemann-Pick C mice demonstrate cell autonomous Purkinje cell neurodegeneration
- (2009) Matthew J. Elrick et al. HUMAN MOLECULAR GENETICS
- Drosophila melanogaster as a Model Organism of Brain Diseases
- (2009) Astrid Jeibmann et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- 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
- Beneficial effects of anti-inflammatory therapy in a mouse model of Niemann-Pick disease type C1
- (2009) David Smith et al. NEUROBIOLOGY OF DISEASE
- 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
- 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
- Development of a Rab9 Transgenic Mouse and Its Ability to Increase the Lifespan of a Murine Model of Niemann-Pick Type C Disease
- (2008) Tatiana Kaptzan et al. AMERICAN JOURNAL OF PATHOLOGY
- Caenorhabditis elegans as a model for lysosomal storage disorders
- (2008) Gert de Voer et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- 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
- 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
- Niemann-Pick C1 protects against atherosclerosis in mice via regulation of macrophage intracellular cholesterol trafficking
- (2008) Jessie R. Zhang et al. JOURNAL OF CLINICAL INVESTIGATION
- 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
- Mitogen-activated protein kinase activity may not be necessary for the neuropathology of Niemann-Pick type C mice
- (2008) Min Zhang et al. JOURNAL OF NEUROCHEMISTRY
- Neuronal Loss of Drosophila NPC1a Causes Cholesterol Aggregation and Age-Progressive Neurodegeneration
- (2008) S. E. Phillips et al. JOURNAL OF NEUROSCIENCE
- A Transcriptome Database for Astrocytes, Neurons, and Oligodendrocytes: A New Resource for Understanding Brain Development and Function
- (2008) J. D. Cahoy 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
- 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
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started