• A disease similarity approach identifies short-lived Niemann-Pick type C disease mice with accelerated brain aging as a novel mouse model for Alzheimer's disease and aging research
• A Novel Small <em>NPC1</em> Promoter Enhances AAV-Mediated Gene Therapy in Mouse Models of Niemann-Pick Type C1 Disease
• A Potentially Treatable Genetic Disorder Which Presented with Neuropsychiatric Involvement and Drug-Resistant Focal Epilepsy: Niemann-Pick Disease Type C
• A Rare Case of Niemann-Pick Disease Type-A
• Accumulation of alkyl-lysophosphatidylcholines in Niemann-Pick disease type C1
• Alterations in Cholesterol and Phosphoinositides Levels in the Intracellular Cholesterol Trafficking Disorder NPC
• Alterations in Proteostasis Mechanisms in Niemann-Pick Type C Disease
• Analysis of Metabolic Changes in Endogenous Metabolites and Diagnostic Biomarkers for Various Diseases Using Liquid Chromatography and Mass Spectrometry
• 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
• 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
• 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
• Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India
• 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 miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study
• Efficient breeding system of infertile Niemann-Pick disease type C model mice by in vitro fertilization and embryo transfer
• Elevated Bile Acid 3β,5α,6β-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann-Pick Type C
• Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1
• 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)
• 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
• 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
• Intracerebroventricular 2-hydroxypropyl-gamma-cyclodextrin alleviates hepatic manifestations without distributing to the liver in a murine model of Niemann-Pick disease type C
• 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
• 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
• Neonatal onset of Niemann-Pick disease type C in a patient with cholesterol re-accumulation in the transplanted liver and inflammatory bowel disease
• 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 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 deficiency impairs microglia function via TREM2-mTOR signaling in Niemann-Pick disease type C
• 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_V2.1-Ca_V1.2 nanodomains drive neuronal death in models of Niemann-Pick Type C disease
• 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
• PLA2G15 is a Lysosomal BMP Hydrolase with Ester Position Specificity and its Targeting Ameliorates Lysosomal Disease
• Psychiatric burden in a cohort of adults with Niemann Pick type C disease: from psychotic symptoms to frontal lobe behavioral disorders
• Recent and anticipated novel drug approvals (Q2 2024 through Q1 2025)
• Role of Botulinum Toxin in Treatment of Secondary Dystonia: A Case Series and Overview of Literature
• S-Adenosyl-l-methionine restores brain mitochondrial membrane fluidity and GSH content improving Niemann-Pick type C disease
• 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
• Sterol O-Acyltransferase 1 (<em>SOAT1</em>): A Genetic Modifier of Niemann-Pick Disease, Type C1
• 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 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