Early Diagnosis of Nieman-Pick Disease Type C and Rapid Response of Gelastic Cataplexy to Treatment With N-Acetyl-L-Leucine: A Case Report.

[Inherited metabolic disease presenting as a psychiatric disorder].

An Australian standard of care for Niemann-Pick disease type C.

Comparison of neonatal systemic and intracerebroventricular AAV9 gene therapy delivery demonstrating improved behavioral and phenotypic outcomes in a mouse model of Niemann-Pick disease, type C1.

Case Report: Interleukin-23 blockade achieves sustained remission in Niemann-Pick type C-associated Crohn's disease refractory to anti-tumor necrosis factor therapy.

Generation and characterization of human iPSC-derived NPC1 I1061T/I10161T i3Neurons as a model for NPC1 disease.

Mass spectrometry-based lipid analysis in NPC1 disease: Methods for phosphoinositide quantification, lipid imaging, and myelin lipid profiling.

N-Alkyl Derivatives of Deoxynojirimycin (DNJ) as Antiviral Agents: Overview and Update.

Extracellular vesicles in Niemann pick disease type C: current knowledge and future opportunities.

Risk Factors for Falls in Older Depressed Adults Treated with Bupropion: An Analysis of the OPTIMUM Randomized Clinical Trial.

Arimoclomol and levacetylleucine for the treatment of neurologic manifestations of Niemann-Pick disease type C: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG).

Characterization of liver disease in a cohort of individuals with Niemann-Pick Disease, Type C1.

The possibility of patients with adult-onset Niemann-Pick disease type C in cases diagnosed with schizophrenia: Analysis of NPC novel biomarkers.

Investigation of dipyridamole-elicited signaling in the brain of Niemann Pick type C mice: A multi-omic study.

NPC1 trafficking via VPS41-dependent LAMP carriers regulates endosomal cholesterol homeostasis.

New multiplex LC-MS/MS method for lipid biomarker analysis of inherited neurodegenerative metabolic diseases.

A water-soluble β-cyclodextrin polymer reduces cholesterol accumulation and autophagy dysfunction in vitro and in Niemann-Pick type C disease model mice.

A whole-brain structural connectivity signature in adult Niemann-Pick disease type C.

Non-invasive and rapid diagnosis of Niemann-Pick disease type C1 by immunocytochemical detection of leaky lysosomes in squamous epithelial cells.

Utility of 24(S)-hydroxycholesterol as a proximal biomarker to monitor long-term intrathecal adrabetadex therapy in individuals with Niemann-Pick disease, type C1.

mTOR inhibition reprograms cellular lipid homeostasis by inducing alternative lipid uptake and promoting cholesterol transport.

Role of mTORC1 signaling in postnatal microglia activation preceding neurodegeneration in a mouse model for Niemann-Pick disease Type C.

Ketogenic Diet in Niemann-Pick Type C: Insights From a Case Report.

Menstrual blood-derived endometrial stem cells ameliorate neuroinflammation and apoptosis through JAK2/STAT3 signaling pathway in NPC1 mutant cell and mice.

Gene Expression Profile of the Cerebral Cortex of Niemann-Pick Disease Type C Mutant Mice.

Clinical characteristics and treatment outcomes in patients with Niemann-Pick disease type C (NP-C): a cross-sectional study.

Heterozygosity in NPC may be associated with neurologic and systemic phenotypes.

Inability of α-cyclodextrins to accommodate cholesterol potentially underlies their lack of efficacy and ototoxicity in Niemann-Pick disease type C treatment.

Biomarker Validation in NPC1: Foundations for Clinical Trials and Regulatory Alignment.

Best Oculomotor Endpoints for Clinical Trials in Hereditary Ataxias: A Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital‑Motor Biomarkers.

Advances in mass spectrometry of lipids for the investigation of Niemann-pick type C disease.

Efficacy and safety of efavirenz in Niemann-Pick disease type C.

Long-term efficacy and safety of arimoclomol in Niemann-Pick disease type C: Final results of the phase 2/3 NPC-002 48-month open-label extension trial.

Exploration of Bromodomain Proteins as Drug Targets for Niemann-Pick Type C Disease.

The Hidden Burden: Gastrointestinal Involvement in Lysosomal Storage Disorders.

An Integrated Platform for High-Throughput Extraction and Mass Spectrometry-Based Quantification of Cholesterol and Sphingosine.

Convergent Validity of the Fine Motor, Speech, and Cognitive Domains of the 5-Domain Niemann-Pick Disease Type C Clinical Severity Scale.

Efficacy results from a 12-month double-blind randomized trial of arimoclomol for treatment of Niemann-Pick disease type C (NPC): Presenting a rescored 4-domain NPC Clinical Severity Scale.

Itraconazole and posaconazole, inhibitors of NPC1 sterol transport, act as pharmacological chaperones after washout.

Disease-Modifying, Neuroprotective Effect of N-Acetyl-l-Leucine in Adult and Pediatric Patients With Niemann-Pick Disease Type C.

Genomic modifiers of neurological resilience in a Niemann-Pick C family.

Neurogenin 2-induced central neurons generated from NPC patient-derived iPSC display attenuated neurite outgrowth while accumulating cholesterol.

Game Changers: Blockbuster Small-Molecule Drugs Approved by the FDA in 2024.

Practical recommendations for diagnosis, management, and follow-up of Niemann-Pick type-C disease patients: a Brazilian perspective.

Label-free quantitative shotgun analysis of bis(monoacylglycero)phosphate lipids.

Niemann Pick C1 mistargeting disrupts lysosomal cholesterol homeostasis contributing to neurodegeneration in a Batten disease model.

Reporting preclinical gene therapy studies in the field of Niemann-Pick type C disease according to the ARRIVE guidelines.

Sex-dependent upregulation in oxylipins involved in inflammation resolution in the cerebellum of Niemann-Pick disease C1 mice.

ApoE4 requires lipidation enhancement to resolve cellular lipid and protein abnormalities following NPC1 inhibition.

Evidence of Oxytosis/Ferroptosis in Niemann-Pick Disease Type C.

Adult-onset Niemann-Pick disease type C presenting as progressive chorea mimicking Huntington's disease.

Mechanistic insights into arimoclomol mediated effects on lysosomal function in Niemann-pick type C disease.

Small-molecule activation of TFEB alleviates Niemann-Pick disease type C via promoting lysosomal exocytosis and biogenesis.

2024 FDA TIDES (Peptides and Oligonucleotides) Harvest.

Thyroid Disorders as a Risk Factor for Neurodegenerative Proteinopathies: A Large-Scale Propensity Score-Matched Analysis.

Intracellular anionic substances cause tau liquid-liquid phase separation.

Differential gene expression patterns in Niemann-Pick Type C and Tay-Sachs diseases: Implications for neurodegenerative mechanisms.

Clinical Evaluation of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C: A Critical Perspective.

Clinical, genotypic, and neuropsychological profile in a series of patients with Niemann-Pick type C disease.

Autosomal Recessive Ataxias in Northeast Brazil: A Regional Multicenter Case Series.

Elevated Cerebrospinal Fluid Total Tau in Niemann-Pick Disease Type C1: Correlation With Clinical Severity and Response to Therapeutic Interventions.

Levacetylleucine (N-acetyl-l-leucine) for Niemann-Pick disease type C.

Detecting the Difficult: An Intronic NPC1 Variant Hiding in Plain Sight.

Prevalence of Neutralizing Antibodies to AAV2 and AAV9 in Individuals with Niemann-Pick Disease, Type C1.

Hypometabolism and atrophy patterns associated with Niemann-Pick type C.

Niemann-Pick C-like Endolysosomal Dysfunction in DHDDS Patient Cells, a Congenital Disorder of Glycosylation, Can Be Treated with Miglustat.

Genetic therapies for movement disorders - current status.

Serum chitotriosidase-1 (CHIT1) as candidate biomarker for mitochondriopathies.

Endothelial and neuronal engagement by AAV-BR1 gene therapy alleviates neurological symptoms and lipid deposition in a mouse model of Niemann-Pick type C2.

Clinical manifestations and molecular genetics of seven patients with Niemann-Pick type-C: a case series with a novel variant.

NPC1 controls TGFBR1 stability in a cholesterol transport-independent manner and promotes hepatocellular carcinoma progression.

Deficiency in NPC2 results in disruption of mitochondria-late endosome/lysosomes contact sites and endo-lysosomal lipid dyshomeostasis.

Dipyridamole Ameliorates Memory Impairment and Increases Hippocampal Calbindin Expression in Niemann Pick C1 Mice.

Arimoclomol: First Approval.

Instationary metabolic flux analysis reveals that NPC1 inhibition increases glycolysis and decreases mitochondrial metabolism in brain microvascular endothelial cells.

Splenomegaly and progressive neurologic involvement: Think about Niemann-Pick type C disease.

Implications of the choroid plexus in Niemann-Pick disease Type C neuropathogenesis.

Cerebrospinal Fluid and Serum Neuron-Specific Enolase in Niemann-Pick Disease Type C1.

Myeloid cell-specific loss of NPC1 in mice recapitulates microgliosis and neurodegeneration in patients with Niemann-Pick type C disease.

Evaluation of the safety and efficacy of miglustat for the treatment of Chinese patients with Niemann-Pick disease type C: A prospective, open-label, single-arm, phase IV trial.

Lamotrigine as a preventive agent against recurrent catatonia in adult-onset Niemann-Pick Type-C disease: a case report.

Investigating p.Ala1035Val in NPC1: New Cellular Models for Niemann-Pick Type C Disease.

Evaluating pathological levels of intracellular cholesterol through Raman and surface-enhanced Raman spectroscopies.

Rosa canina L. Methanol Extract and Its Component Rutin Reduce Cholesterol More Efficiently than Miglustat in Niemann-Pick C Fibroblasts.

How to diagnose acid sphingomyelinase deficiency (ASMD) and Niemann-Pick disease type C from bone marrow and peripheral blood smears.

Plasma phosphorylated-tau217 is increased in Niemann-Pick disease type C.

Global and Targeted Metabolomics for Revealing Metabolomic Alteration in Niemann-Pick Disease Type C Model Cells.

Enhanced mGluR5 intracellular activity causes psychiatric alterations in Niemann Pick type C disease.

Molecular determinants of phospholipid treatment to reduce intracellular cholesterol accumulation in NPC1 deficiency.

NPC1 links cholesterol trafficking to microglial morphology via the gastrosome.

Graphene Microelectrode Arrays, 4D Structured Illumination Microscopy, and a Machine Learning Spike Sorting Algorithm Permit the Analysis of Ultrastructural Neuronal Changes During Neuronal Signaling in a Model of Niemann-Pick Disease Type C.

An expert rule-based approach for identifying infantile-onset Pompe disease patients using retrospective electronic health records.

Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disorders.

Mutant induced neurons and humanized mice enable identification of Niemann-Pick type C1 proteostatic therapies.

A Potential Role for the Amyloid Precursor Protein in the Regulation of Interferon Signaling, Cholesterol Homeostasis, and Tau Phosphorylation in Niemann-Pick Disease Type C.

Npc1 deficiency impairs microglia function via TREM2-mTOR signaling in Niemann-Pick disease type C.

Efficient breeding system of infertile Niemann-Pick disease type C model mice by in vitro fertilization and embryo transfer.

Evaluation of the landscape of pharmacodynamic biomarkers in Niemann-Pick Disease Type C (NPC).

Role of Botulinum Toxin in Treatment of Secondary Dystonia: A Case Series and Overview of Literature.

Accumulation of alkyl-lysophosphatidylcholines in Niemann-Pick disease type C1.

CRISPR/Cas9 technology in the modeling of and evaluation of possible treatments for Niemann-Pick C.

Supranuclear Vertical Gaze Palsy in Movement Disorders.

PLA2G15 is a Lysosomal BMP Hydrolase and its Targeting Ameliorates Lysosomal Disease.

A Potentially Treatable Genetic Disorder Which Presented with Neuropsychiatric Involvement and Drug-Resistant Focal Epilepsy: Niemann-Pick Disease Type C.

Swallowing characterization of adult-onset Niemann-Pick, type C1 patients.

Intracerebroventricular 2-hydroxypropyl-γ-cyclodextrin alleviates hepatic manifestations without distributing to the liver in a murine model of Niemann-Pick disease type C.

Recent and anticipated novel drug approvals (Q2 2024 through Q1 2025).

A Rare Case of Niemann-Pick Disease Type-A.

Analysis of Metabolic Changes in Endogenous Metabolites and Diagnostic Biomarkers for Various Diseases Using Liquid Chromatography and Mass Spectrometry.

Targeting the autophagy-NAD axis protects against cell death in Niemann-Pick type C1 disease models.

Elevated Bile Acid 3β,5α,6β-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann-Pick Type C.

Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India.

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.

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.

Endogenous Protein-Protein Interaction Network of the NPC Cholesterol Transporter 1 in the Cerebral Cortex.

Sterol O-Acyltransferase 1 (SOAT1): A Genetic Modifier of Niemann-Pick Disease, Type C1.

Chloride Homeostasis Regulates cGAS-STING Signaling.

Alterations in Proteostasis Mechanisms in Niemann-Pick Type C Disease.

S-Adenosyl-l-methionine restores brain mitochondrial membrane fluidity and GSH content improving Niemann-Pick type C disease.

Importance of the biochemical investigations for the functional characterization of a NPC1 variant identified by exome sequencing.

Plasma neurofilament light chain is increased in Niemann-Pick Type C but glial fibrillary acidic protein remains normal.

Long-term efficacy of intrathecal cyclodextrin in patients with Niemann-Pick disease type C.

Endo-lysosomal dysfunction and neuronal-glial crosstalk in Niemann-Pick type C disease.

Diagnostic algorithm for neonatal intrahepatic cholestasis integrating single-gene testing and next-generation sequencing in East Asia.

Mitochondrial dysfunction in NPC1-deficiency is not rescued by drugs targeting the glucosylceramidase GBA2 and the cholesterol-binding proteins TSPO and StARD1.

Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C.

Novel compound heterozygous mutations of the NPC1 gene associated with Niemann-pick disease type C: a case report and review of the literature.

Impact of miR-29c-3p in the Nucleus Accumbens on Methamphetamine-Induced Behavioral Sensitization and Neuroplasticity-Related Proteins.

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.

Innate immune sensing of lysosomal dysfunction drives multiple lysosomal storage disorders.

Uncovering the Challenges of Rare Diseases: Insights From a Retrospective Cross-Sectional Study in Albania (2005-2022).

The paracaspase MALT1 controls cholesterol homeostasis in glioblastoma stem-like cells through lysosome proteome shaping.

Late adult-onset Niemann Pick type C (NPC): An "atypical" typical presentation at the age of 62. Expert commentary.

Cholesterol redistribution triggered by CYP46A1 gene therapy improves major hallmarks of Niemann-Pick type C disease but is not sufficient to halt neurodegeneration.

Niemann-Pick Disease Type C (NPDC) by Mutation of NPC1 and NPC2: Aberrant Lysosomal Cholesterol Trafficking and Oxidative Stress.

Characterization of central manifestations in patients with Niemann-Pick disease type C.

Development and validation of a new genotype-phenotype correlation for Niemann-Pick disease type C1.

Filipin complex-reactive brain lesions: a cautionary tale.

Npc1 gene mutation abnormally activates the classical Wnt signalling pathway in mouse kidneys and promotes renal fibrosis.

Trehalose enhances mitochondria deficits in human NPC1 mutant fibroblasts but disrupts mouse Purkinje cell dendritic growth ex vivo.

Challenges in the Definitive Diagnosis of Niemann-Pick Type C-Leaky Variants and Alternative Transcripts.

Comparative Hippocampal Proteome and Phosphoproteome in a Niemann-Pick, Type C1 Mouse Model Reveal Insights into Disease Mechanisms.

Familial Alzheimer's disease associated with heterozygous NPC1 mutation.

Global Proteomics for Identifying the Alteration Pathway of Niemann-Pick Disease Type C Using Hepatic Cell Models.

Hydroxypropyl-β-cyclodextrin inhibits the development of triple negative breast cancer by enhancing antitumor immunity.

The expanding boundaries of sphingolipid lysosomal storage diseases; insights from Niemann-Pick disease type C.

Glycosphingolipids are linked to elevated neurotransmission and neurodegeneration in a Drosophila model of Niemann Pick type C.

Genetic and sporadic forms of tauopathies-TAU as a disease driver for the majority of patients but the minority of tauopathies.

Psychiatric burden in a cohort of adults with Niemann Pick type C disease: from psychotic symptoms to frontal lobe behavioral disorders.

Chemical synthesis and biochemical properties of cholestane-5α,6β-diol-3-sulfonate: A non-hydrolysable analogue of cholestane-5α,6β-diol-3β-sulfate.

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.

Therapeutic Role of Pharmacological Chaperones in Lysosomal Storage Disorders: A Review of the Evidence and Informed Approach to Reclassification.

Different solubilizing ability of cyclodextrin derivatives for cholesterol in Niemann-Pick disease type C treatment.

Midline brain structures in adult Niemann-Pick type C disease: a cross-sectional study.

[Argentinean Consensus on the Diagnosis and Treatment of Niemann- Pick Disease Type C].

Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine.

Loss of Flot2 expression in deep cerebellar nuclei neurons of mice with Niemann-Pick disease type C.

Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1.

NPC1-dependent alterations in KV2.1-CaV1.2 nanodomains drive neuronal death in models of Niemann-Pick Type C disease.

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.

Novel Mutation in the Feline NPC2 Gene in Cats with Niemann-Pick Disease.

The Npc2Gt(LST105)BygNya mouse signifies pathological changes comparable to human Niemann-Pick type C2 disease.

Identification and characterization of protein interactions with the major Niemann-Pick type C disease protein in yeast reveals pathways of therapeutic potential.

Neonatal onset of Niemann-Pick disease type C in a patient with cholesterol re-accumulation in the transplanted liver and inflammatory bowel disease.

NPC1 plays a role in the trafficking of specific cargo to melanosomes.

The cholesterol transporter NPC1 is essential for epigenetic regulation and maturation of oligodendrocyte lineage cells.

New Perspectives in Dried Blood Spot Biomarkers for Lysosomal Storage Diseases.

A Novel Small NPC1 Promoter Enhances AAV-Mediated Gene Therapy in Mouse Models of Niemann-Pick Type C1 Disease.

Peripheral immune system modulates Purkinje cell degeneration in Niemann-Pick disease type C1.

Late adult-onset Niemann Pick type C (NPC): An "atypical" typical presentation at the age of 62.

Investigation of Brain Iron in Niemann-Pick Type C: A 7T Quantitative Susceptibility Mapping Study.

N-acetyl-L-leucine for Niemann-Pick type C: a multinational double-blind randomized placebo-controlled crossover study.

Juvenile CLN3 disease is a lysosomal cholesterol storage disorder: similarities with Niemann-Pick type C disease.

Current advancements in therapy for Niemann-Pick disease: progress and pitfalls.

The experience of living with Niemann-Pick type C: a patient and caregiver perspective.

Low Risk Profile of Long-Term Repeated Lumbar Puncture for Intrathecal Delivery of 2-Hydroxypropyl-Beta-Cyclodextrin in Patients With Niemann-Pick Type C.

Molecular Mind Games: The Medicinal Action of Cyclodextrins in Neurodegenerative Diseases.

Niemann-Pick type C disease: Case report and review of the literature.

Dual Biologic Therapy in a Patient With Niemann-Pick Type C and Crohn Disease: A Case Report and Literature Review.

Lithium ameliorates Niemann-Pick C1 disease phenotypes by impeding STING/SREBP2 activation.

Defective iron homeostasis and hematological abnormalities in Niemann-Pick disease type C1.

Niemann-Pick C1 protein regulates platelet membrane-associated calcium ion signaling in thrombo-occlusive diseases in mice.

Sigma-2 Receptors-From Basic Biology to Therapeutic Target: A Focus on Age-Related Degenerative Diseases.

Iron Limitation Restores Autophagy and Increases Lifespan in the Yeast Model of Niemann-Pick Type C1.

NPC1 variants are not associated with Parkinson's disease, REM-sleep behavior disorder or dementia with Lewy bodies in European cohorts.

Disruptive lysosomal-metabolic signaling and neurodevelopmental deficits that precede Purkinje cell loss in a mouse model of Niemann-Pick Type-C disease.

Severe neurometabolic phenotype in npc1 -/- zebrafish with a C-terminal mutation.

The Niemann-Pick type diseases - A synopsis of inborn errors in sphingolipid and cholesterol metabolism.

Alterations in Cholesterol and Phosphoinositides Levels in the Intracellular Cholesterol Trafficking Disorder NPC.

Investigation of 2-Hydroxypropyl-β-Cyclodextrin Treatment in a Neuronal-Like Cell Model of Niemann-Pick Type C Using Quantitative Proteomics.

Lysosomal phospholipase A2 contributes to the biosynthesis of the atypical late endosome lipid bis(monoacylglycero)phosphate.

N-butyldeoxynojirimycin (miglustat) ameliorates pulmonary fibrosis through inhibition of nuclear translocation of Smad2/3.

Beneficial in vitro effect of N-acetylcysteine and coenzyme Q10 on DNA damage in neurodegenerative Niemann-Pick type C 1 disease: preliminary results.

NDUFA4L2 reduces mitochondrial respiration resulting in defective lysosomal trafficking in clear cell renal cell carcinoma.

Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation.

Searching, Structural Determination, and Diagnostic Performance Evaluation of Biomarker Molecules for Niemann-Pick Disease Type C Using Liquid Chromatography/Tandem Mass Spectrometry.