• <em>Acat1/Soat1</em> knockout extends the mutant <em>Npc1</em> mouse lifespan and ameliorates functional deficiencies in multiple organelles of mutant cells
• A differential proteomics study of cerebrospinal fluid from individuals with Niemann-Pick disease, Type C1
• A Novel Small <em>NPC1</em> Promoter Enhances AAV-Mediated Gene Therapy in Mouse Models of Niemann-Pick Type C1 Disease
• A novel strategy for delivering Niemann-Pick type C2 proteins across the blood-brain barrier using the brain endothelial-specific AAV-BR1 virus
• A Retrospective Multicentric Study of 34 Patients with Niemann-Pick Type C Disease and Early Liver Involvement in France
• Alterations in Cholesterol and Phosphoinositides Levels in the Intracellular Cholesterol Trafficking Disorder NPC
• Alterations in Proteostasis Mechanisms in Niemann-Pick Type C Disease
• An explanation for the decreased severity of liver malfunction in Niemann-Pick C1 disease with age
• Analysis of Metabolic Changes in Endogenous Metabolites and Diagnostic Biomarkers for Various Diseases Using Liquid Chromatography and Mass Spectrometry
• 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
• Characterization of central manifestations in patients with Niemann-Pick disease type C
• Cholesterol redistribution triggered by CYP46A1 gene therapy improves major hallmarks of Niemann-Pick type C disease but is not sufficient to halt neurodegeneration
• 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
• CRISPR/Cas9 technology in the modeling of and evaluation of possible treatments for Niemann-Pick C
• Current advancements in therapy for Niemann-Pick disease: progress and pitfalls
• Cyclodextrins applied to the treatment of lysosomal storage disorders
• Cytokine profile and cholesterol levels in patients with Niemann-Pick type C disease presenting neurological symptoms: in vivo effect of miglustat and in vitro effect of N-acetylcysteine and coenzyme Q10
• Development and validation of a new genotype-phenotype correlation for 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
• Differential Interferon Signaling Regulation and Oxidative Stress Responses in the Cerebral Cortex and Cerebellum Could Account for the Spatiotemporal Pattern of Neurodegeneration in Niemann-Pick Disease Type C
• Disruptive lysosomal-metabolic signaling and neurodevelopmental deficits that precede Purkinje cell loss in a mouse model of Niemann-Pick Type-C disease
• Effects of 6-O-α-maltosyl-β cyclodextrin on lipid metabolism in Npc1-deficient Chinese hamster ovary 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
• Endo-lysosomal dysfunction and neuronal-glial crosstalk in Niemann-Pick type C disease
• Endogenous Protein-Protein Interaction Network of the NPC Cholesterol Transporter 1 in the Cerebral Cortex
• Evaluation of the landscape of pharmacodynamic biomarkers in Niemann-Pick Disease Type C (NPC)
• 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
• 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
• 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
• Identification and characterization of protein interactions with the major Niemann-Pick type C disease protein in yeast reveals pathways of therapeutic potential
• Impact of miR-29c-3p in the Nucleus Accumbens on Methamphetamine-Induced Behavioral Sensitization and Neuroplasticity-Related Proteins
• Importance of the biochemical investigations for the functional characterization of a NPC1 variant identified by exome sequencing
• Innate immune sensing of lysosomal dysfunction drives multiple lysosomal storage disorders
• Intracerebroventricular 2-hydroxypropyl-γ-cyclodextrin alleviates hepatic manifestations without distributing to the liver in a murine model of Niemann-Pick disease type C
• 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
• Lactose-Appended Hydroxypropyl-β-Cyclodextrin Lowers Cholesterol Accumulation and Alleviates Motor Dysfunction in Niemann-Pick Type C Disease Model Mice
• Late adult-onset Niemann Pick type C (NPC): An "atypical" typical presentation at the age of 62
• Late adult-onset Niemann Pick type C (NPC): An "atypical" typical presentation at the age of 62. Expert commentary
• Long-term efficacy of intrathecal cyclodextrin in patients 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
• Metabolic Alteration Analysis of Steroid Hormones in Niemann-Pick Disease Type C Model Cell Using Liquid Chromatography/Tandem Mass Spectrometry
• Mitochondrial dysfunction in NPC1-deficiency is not rescued by drugs targeting the glucosylceramidase GBA2 and the cholesterol-binding proteins TSPO and StARD1
• Molecular and functional study of pediatric patients with Niemann-Pick C in Argentina
• 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
• 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
• Niemann-Pick C1 protein regulates platelet membrane-associated calcium ion signaling in thrombo-occlusive diseases in mice
• 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 compound heterozygous mutations of the NPC1 gene associated with Niemann-pick disease type C: a case report and review of the literature
• Npc1 gene mutation abnormally activates the classical Wnt signalling pathway in mouse kidneys and promotes renal fibrosis
• NPC1 plays a role in the trafficking of specific cargo to melanosomes
• 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
• ORMDL mislocalization by impaired autophagy in Niemann-Pick type C disease leads to increased de novo sphingolipid biosynthesis
• Overview of clinical, molecular, and therapeutic features of Niemann-Pick disease (types A, B, and C): Focus on therapeutic approaches
• Peripheral immune system modulates Purkinje cell degeneration in Niemann-Pick disease type C1
• Phenotype assessment for neurodegenerative murine models with ataxia and application to 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
• Repurposing Dipyridamole in Niemann Pick Type C Disease: A Proof of Concept Study
• S-Adenosyl-l-methionine restores brain mitochondrial membrane fluidity and GSH content improving Niemann-Pick type C disease
• 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
• Sterol O-Acyltransferase 1 (<em>SOAT1</em>): A Genetic Modifier of Niemann-Pick Disease, Type C1
• Structure-function relationships of cholesterol mobilization from the endo-lysosome compartment of NPC1-deficient human cells by β-CD polyrotaxanes
• Swallowing characterization of adult-onset Niemann-Pick, type C1 patients
• Targeting the autophagy-NAD axis protects against cell death in Niemann-Pick type C1 disease models
• 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 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 paracaspase MALT1 controls cholesterol homeostasis in glioblastoma stem-like cells through lysosome proteome shaping
• Trehalose enhances mitochondria deficits in human NPC1 mutant fibroblasts but disrupts mouse Purkinje cell dendritic growth ex vivo
• Trial of <em>N</em>-Acetyl-l-Leucine in Niemann-Pick Disease Type C