Disease: Niemann-Pick Disease Type C
- 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
- Alterations in Cholesterol and Phosphoinositides Levels in the Intracellular Cholesterol Trafficking Disorder NPC
- Alterations in Proteostasis Mechanisms in Niemann-Pick Type C Disease
- Argentinean Consensus on the Diagnosis and Treatment of Niemann- Pick Disease 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
- 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
- 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
- Chloride Homeostasis Regulates cGAS-STING Signaling
- Cholesterol redistribution triggered by CYP46A1 gene therapy improves major hallmarks of Niemann-Pick type C disease but is not sufficient to halt neurodegeneration
- Comparative Hippocampal Proteome and Phosphoproteome in a Niemann-Pick, Type C1 Mouse Model Reveal Insights into Disease Mechanisms
- 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 and validation of a new genotype-phenotype correlation for Niemann-Pick disease type C1
- Diagnostic algorithm for neonatal intrahepatic cholestasis integrating single-gene testing and next-generation sequencing in East Asia
- 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
- 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 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
- 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
- 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
- Filipin complex-reactive brain lesions: a cautionary tale
- 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<sup>nih</sup> 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
- 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
- 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
- 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
- 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
- Long-term efficacy of intrathecal cyclodextrin in patients with Niemann-Pick disease type C
- 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
- Mitochondrial dysfunction in NPC1-deficiency is not rescued by drugs targeting the glucosylceramidase GBA2 and the cholesterol-binding proteins TSPO and StARD1
- 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 Disease
- Niemann-Pick Disease Type C (NPDC) by Mutation of <em>NPC1</em> and <em>NPC2</em>: Aberrant Lysosomal Cholesterol Trafficking and Oxidative Stress
- Niemann-Pick Disease Type C (NPDC) by Mutation of NPC1 and NPC2: Aberrant Lysosomal Cholesterol Trafficking and Oxidative Stress
- Niemann-Pick type C disease: Case report and review of the literature
- Novel compound heterozygous mutations of the NPC1 gene associated with Niemann-pick disease type C: a case report and review of the literature
- Novel Mutation in the Feline <em>NPC2</em> Gene in Cats with Niemann-Pick Disease
- 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 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<sub>V</sub>2.1-Ca<sub>V</sub>1.2 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
- 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
- Severe neurometabolic phenotype in <em>npc1</em> <sup>-/-</sup> 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
- 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
- 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
- Therapeutic Role of Pharmacological Chaperones in Lysosomal Storage Disorders: A Review of the Evidence and Informed Approach to Reclassification
- 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
- Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C
- Uncovering the Challenges of Rare Diseases: Insights From a Retrospective Cross-Sectional Study in Albania (2005-2022)
- Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine