• A differential proteomics study of cerebrospinal fluid from individuals with Niemann-Pick disease, Type C1
• A Niemann-Pick Disease Type C2 with Severe Pulmonary Involvement and Limited Therapeutic Options: A Case Report
• A Novel Small <em>NPC1</em> Promoter Enhances AAV-Mediated Gene Therapy in Mouse Models of Niemann-Pick Type C1 Disease
• A Retrospective Multicentric Study of 34 Patients with Niemann-Pick Type C Disease and Early Liver Involvement in France
• Adeno-associated virus vector-based gene therapies for pediatric diseases
• Alterations in Cholesterol and Phosphoinositides Levels in the Intracellular Cholesterol Trafficking Disorder NPC
• Anti-TNF therapy for inflammatory bowel disease in patients with neurodegenerative Niemann-Pick disease Type C
• Application of data augmentation techniques towards metabolomics
• Argentinean Consensus on the Diagnosis and Treatment of Niemann- Pick Disease Type C
• Backward leaning during gait: An underrecognized sign in Niemann-Pick type C
• Beneficial in vitro effect of N-acetylcysteine and coenzyme Q10 on DNA damage in neurodegenerative Niemann-Pick type C 1 disease: preliminary results
• Central sleep apnea and daytime sleepiness in Niemann-Pick type C disease: a report of 2 cases
• Challenges in the Definitive Diagnosis of Niemann-Pick Type C-Leaky Variants and Alternative Transcripts
• Chemical Synthesis and Biochemical Properties of Cholestane-5α,6β-diol-3-sulfonate, A Non-hydrolysable Analogue of cholestane-5α,6β-diol-3β-sulfate
• Chemical synthesis and biochemical properties of cholestane-5α,6β-diol-3-sulfonate: A non-hydrolysable analogue of cholestane-5α,6β-diol-3β-sulfate
• Clinical correlates of movement disorders in adult Niemann-Pick type C patients measured via a Personal KinetiGraph
• Comparative Hippocampal Proteome and Phosphoproteome in a Niemann-Pick, Type C1 Mouse Model Reveal Insights into Disease Mechanisms
• Complex N-Linked Glycosylation: A Potential Modifier of Niemann-Pick Disease, Type C1 Pathology
• Cost-effectiveness of miglustat versus symptomatic therapy of Niemann-Pick disease type C
• Current advancements in therapy for Niemann-Pick disease: progress and pitfalls
• Cyclodextrins applied to the treatment of lysosomal storage disorders
• Defective iron homeostasis and hematological abnormalities in Niemann-Pick disease type C1
• Development of a Highly Sensitive and Rapid Liquid Chromatography-Tandem Mass Spectrometric Method Using a Basic Mobile Phase Additive to Determine the Characteristics of the Urinary Metabolites for Niemann-Pick Disease Type C
• Different solubilizing ability of cyclodextrin derivatives for cholesterol in Niemann-Pick disease type C treatment
• Disruptive lysosomal-metabolic signaling and neurodevelopmental deficits that precede Purkinje cell loss in a mouse model of Niemann-Pick Type-C disease
• Dual Biologic Therapy in a Patient With Niemann-Pick Type C and Crohn Disease: A Case Report and Literature Review
• Early Risk Stratification for Natural Disease Course in Fabry Patients Using Plasma Globotriaosylsphingosine Levels
• Effects of 6-O-α-maltosyl-β cyclodextrin on lipid metabolism in Npc1-deficient Chinese hamster ovary cells
• Effects of Hydroxypropyl-Beta-Cyclodextrin on Cultured Brain Endothelial Cells
• Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study
• Efficacy and safety clinical trial with efavirenz in patients diagnosed with adult Niemann-pick type C with cognitive impairment
• Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1
• Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation
• Elucidating the mutational impact in causing Niemann-Pick disease type C: an <em>in silico</em> approach
• Evidence of redox imbalance and mitochondrial dysfunction in Niemann-Pick type C 1 patients: the in vitro effect of combined therapy with antioxidants and β-cyclodextrin nanoparticles
• Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C
• Familial Alzheimer's disease associated with heterozygous <em>NPC1</em> mutation
• Fine-tuned cholesterol solubilizer, mono-6-O-α-D-maltosyl-γ-cyclodextrin, ameliorates experimental Niemann-Pick disease type C without hearing loss
• Genetic and sporadic forms of tauopathies-TAU as a disease driver for the majority of patients but the minority of tauopathies
• Global Proteomics for Identifying the Alteration Pathway of Niemann-Pick Disease Type C Using Hepatic Cell Models
• Glycosphingolipids are linked to elevated neurotransmission and neurodegeneration in a Drosophila model of Niemann Pick type C
• Heat shock protein amplification improves cerebellar myelination in the Npc1^nih mouse model
• Hydroxypropyl-β-cyclodextrin inhibits the development of triple negative breast cancer by enhancing antitumor immunity
• Identification and characterization of protein interactions with the major Niemann-Pick type C disease protein in yeast reveals pathways of therapeutic potential
• Inhibition of the Niemann-Pick C1 protein is a conserved feature of multiple strains of pathogenic mycobacteria
• Intravenous 2-hydroxypropyl-β-cyclodextrin (Trappsol® Cyclo™) demonstrates biological activity and impacts cholesterol metabolism in the central nervous system and peripheral tissues in adult subjects with Niemann-Pick Disease Type C1: Results of a phase
• Investigation of 2-Hydroxypropyl-β-Cyclodextrin Treatment in a Neuronal-Like Cell Model of Niemann-Pick Type C Using Quantitative Proteomics
• Investigation of Brain Iron in Niemann-Pick Type C: A 7T Quantitative Susceptibility Mapping Study
• Iron Limitation Restores Autophagy and Increases Lifespan in the Yeast Model of Niemann-Pick Type C1
• Juvenile CLN3 disease is a lysosomal cholesterol storage disorder: similarities with Niemann-Pick type C disease
• Lithium ameliorates Niemann-Pick C1 disease phenotypes by impeding STING/SREBP2 activation
• Long-term administration of intravenous Trappsol® Cyclo™ (HP-β-CD) results in clinical benefits and stabilization or slowing of disease progression in patients with Niemann-Pick disease type C1: Results of an international 48-week Phase I/II trial
• Loss of Flot2 expression in deep cerebellar nuclei neurons of mice with Niemann-Pick disease type C
• Low Risk Profile of Long-Term Repeated Lumbar Puncture for Intrathecal Delivery of 2-Hydroxypropyl-Beta-Cyclodextrin in Patients With Niemann-Pick Type C
• Lysosomal phospholipase A2 contributes to the biosynthesis of the atypical late endosome lipid bis(monoacylglycero)phosphate
• Lysosomal Targeting of β-Cyclodextrin
• Molecular Mind Games: The Medicinal Action of Cyclodextrins in Neurodegenerative Diseases
• Molecular profile and peripheral markers of neurodegeneration in patients with Niemann-Pick type C: Decrease in Plasminogen Activator Inhibitor type 1 and Platelet-Derived Growth Factor type AA
• N-acetyl-L-leucine for Niemann-Pick type C: a multinational double-blind randomized placebo-controlled crossover study
• N-butyldeoxynojirimycin (miglustat) ameliorates pulmonary fibrosis through inhibition of nuclear translocation of Smad2/3
• NDUFA4L2 reduces mitochondrial respiration resulting in defective lysosomal trafficking in clear cell renal cell carcinoma
• Neonatal onset of Niemann-Pick disease type C in a patient with cholesterol re-accumulation in the transplanted liver and inflammatory bowel disease
• Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1
• New Perspectives in Dried Blood Spot Biomarkers for Lysosomal Storage Diseases
• Niemann-Pick C1 protein regulates platelet membrane-associated calcium ion signaling in thrombo-occlusive diseases in mice
• Niemann-Pick Disease
• Niemann-Pick type C disease as proof-of-concept for intelligent biomarker panel selection in neurometabolic disorders
• Niemann-Pick type C disease: Case report and review of the literature
• Niemann-Pick Type C Proteins Are Required for Sterol Transport and Appressorium-Mediated Plant Penetration of <em>Colletotrichum orbiculare</em>
• Novel Mutation in the Feline <em>NPC2</em> Gene in Cats with Niemann-Pick Disease
• NPC1 plays a role in the trafficking of specific cargo to melanosomes
• NPC1 variants are not associated with Parkinson's disease, REM-sleep behavior disorder or dementia with Lewy bodies in European cohorts
• NPC1-dependent alterations in K_V2.1-Ca_V1.2 nanodomains drive neuronal death in models of Niemann-Pick Type C disease
• Organ Weights in <em>NPC1</em> Mutant Mice Partly Normalized by Various Pharmacological Treatment Approaches
• Pediatric hepatocellular carcinoma associated with Niemann-Pick disease type C: Case report and literature review
• Peripheral immune system modulates Purkinje cell degeneration in Niemann-Pick disease type C1
• Phenotypic expression of swallowing function in Niemann-Pick disease type C1
• Potential Composite Digenic Contribution of <em>NPC1</em> and <em>NOD2</em> Leading to Atypical Lethal Niemann-Pick Type C with Initial Crohn's Disease-like Presentation: Genotype-Phenotype Correlation Study
• Probable Miglustat-Induced Psychosis in a Child With Niemann-Pick Type C
• Psychiatric burden in a cohort of adults with Niemann Pick type C disease: from psychotic symptoms to frontal lobe behavioral disorders
• Quantitative Oculomotor Assessment in Hereditary Ataxia: Discriminatory Power, Correlation with Severity Measures, and Recommended Parameters for Specific Genotypes
• Searching, Structural Determination, and Diagnostic Performance Evaluation of Biomarker Molecules for Niemann-Pick Disease Type C Using Liquid Chromatography/Tandem Mass Spectrometry
• Secondary Mitochondrial Dysfunction as a Cause of Neurodegenerative Dysfunction in Lysosomal Storage Diseases and an Overview of Potential Therapies
• Severe neurometabolic phenotype in <em>npc1</em> ^-/- zebrafish with a C-terminal mutation
• Sigma-2 Receptors-From Basic Biology to Therapeutic Target: A Focus on Age-Related Degenerative Diseases
• Species-specific differences in NPC1 protein trafficking govern therapeutic response in Niemann-Pick type C disease
• Spectrum of Movement Disorders in Niemann-Pick Disease Type C
• Structure-function relationships of cholesterol mobilization from the endo-lysosome compartment of NPC1-deficient human cells by β-CD polyrotaxanes
• The appearance of phagocytic microglia in the postnatal brain of Niemann Pick type C mice is developmentally regulated and underscores shortfalls in fine odor discrimination
• The Cholesterol Transport Inhibitor U18666A Interferes with Pseudorabies Virus Infection
• The cholesterol transporter NPC1 is essential for epigenetic regulation and maturation of oligodendrocyte lineage cells
• The expanding boundaries of sphingolipid lysosomal storage diseases; insights from Niemann-Pick disease type C
• The experience of living with Niemann-Pick type C: a patient and caregiver perspective
• The Niemann-Pick type diseases - A synopsis of inborn errors in sphingolipid and cholesterol metabolism
• The point mutation of the cholesterol trafficking membrane protein NPC1 may affect its proper function in more than a single step: Molecular dynamics simulation study
• Therapeutic Role of Pharmacological Chaperones in Lysosomal Storage Disorders: A Review of the Evidence and Informed Approach to Reclassification
• Treatable Ataxias: How to Find the Needle in the Haystack?
• Trehalose enhances mitochondria deficits in human NPC1 mutant fibroblasts but disrupts mouse Purkinje cell dendritic growth ex vivo
• Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine
• Validating a Major Quantitative Trait Locus and Predicting Candidate Genes Associated With Kernel Width Through QTL Mapping and RNA-Sequencing Technology Using Near-Isogenic Lines in Maize