• 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 MARV glycoprotein-specific antibody with potentials of broad-spectrum neutralization to filovirus
• 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 with a novel variant in the NPC2 gene presenting with neuropsychiatric manifestations in middle age
• A Rare Case of Niemann-Pick Disease Type-A
• A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem
• A retrospective study of morbidity and mortality of chronic acid sphingomyelinase deficiency in Germany
• Accumulation of alkyl-lysophosphatidylcholines in Niemann-Pick disease type C1
• Accumulation of TMEM106B C-terminal fragments in Niemann-Pick type C disease
• Acid sphingomyelinase deficiency in France: a retrospective survival study
• Alkaline sphingomyelinase deficiency impairs intestinal mucosal barrier integrity and reduces antioxidant capacity in dextran sulfate sodium-induced colitis
• 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
• Antennal transcriptome analysis reveals sensory receptors potentially associated with host detection in the livestock pest Lucilia cuprina
• Association of lipid-lowering drug targets with risk of cutaneous melanoma: a mendelian randomization study
• Association of lipid-lowering drugs with gut microbiota: A Mendelian randomization study
• Association of NPC1L1 and HMGCR gene polymorphisms with coronary artery calcification in patients with premature triple-vessel coronary disease
• Associations of Dietary Cholesterol Consumption With Incident Diabetes and Cardiovascular Disease: The Role of Genetic Variability in Cholesterol Absorption and Disease Predisposition
• Bilateral Macular Halo and Full-Thickness Macular Hole Repair in Niemann-Pick Disease Type B
• Blockade of STARD3-mediated cholesterol transport alleviates diabetes-induced podocyte injury by reducing mitochondrial cholesterol accumulation
• Blood Cancer Network Ireland (BCNI) and National Cancer Registry Ireland (NCRI) collaboration: challenges and utility of an Enhanced Blood Cancer Outcomes Registry (EBCOR) pilot
• Brain Organoids: A Game-Changer for Drug Testing
• Case report: Clinical, imaging, and genetic characteristics of type B niemann pick disease combined with segawa syndrome diagnosed via dual gene sequencing
• CffDNA screening for Niemann-pick disease, type C1: a case series
• Chloride Homeostasis Regulates cGAS-STING Signaling
• Cholesterol uptake in the intestine is regulated by the LASP1-AKT-NPC1L1 signaling pathway
• CRISPR/Cas9 technology in the modeling of and evaluation of possible treatments for Niemann-Pick C
• Cyclodextrins as therapeutic drugs for treating lipid metabolism disorders
• 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
• Diagnostic odyssey for patients with acid sphingomyelinase deficiency (ASMD): Exploring the potential indicators of diagnosis using quantitative and qualitative data
• 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
• Differently increased volumes of multiple brain areas in <em>Npc1</em> mutant mice following various drug treatments
• Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods
• Duo-Chol: A Photoconvertible Live Cell Imaging Tool for Tracking Cholesterol
• Efficient breeding system of infertile Niemann-Pick disease type C model mice by in vitro fertilization and embryo transfer
• Elevated Bile Acid 3beta,5alpha,6beta-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann-Pick Type C
• 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
• Eponyms That Honor Jewish Dermatologists: A Celebration and a Remembrance Part Three: Jewish Physicians Who Practiced During the Holocaust and in its Aftermath
• Eponyms that honor Jewish dermatologists: A celebration and a remembrance, Part three: Jewish physicians who practiced during the Holocaust and in its aftermath
• Estimating the effect of lipid-lowering agents on novel subtypes of adult-onset diabetes
• Evaluation of the Genetic Background of Patients with Niemann-Pick Disease
• Evaluation of the landscape of pharmacodynamic biomarkers in Niemann-Pick Disease Type C (NPC)
• Framework for Multistakeholder Patient Registries in the Field of Rare Diseases: Focus on Neurogenetic Diseases
• Fut2 Deficiency Promotes Intestinal Stem Cell Aging by Damaging Mitochondrial Functions via Down-Regulating α1,2-Fucosylation of Asah2 and Npc1
• Genetic association of lipid-lowering drugs with aortic aneurysms: a Mendelian randomization study
• Genetic forms of tauopathies: inherited causes and implications of Alzheimer's disease-like TAU pathology in primary and secondary tauopathies
• GESUCHT: ASMD (Acid Sphingomyelinase Defiency) Typ-B (vormals Nieman Pick B)
• 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
• Isolation, characterization, and circulation sphere of a filovirus in fruit bats
• LDL-c Lowering, Ischemic Stroke, and Small Vessel Disease Brain Imaging Biomarkers: A Mendelian Randomization Study
• Lipids as Emerging Biomarkers in Neurodegenerative Diseases
• Long-term efficacy of intrathecal cyclodextrin in patients with Niemann-Pick disease type C
• Loss-of-function SMPD1 gene variant in Progressive Supranuclear Palsy-Richardson Syndrome patients of Chinese ancestry
• Loss-of-Function Variant in the SMPD1 Gene in Progressive Supranuclear Palsy-Richardson Syndrome Patients of Chinese Ancestry
• Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature
• Mapping yield and yield-related traits using diverse common bean germplasm
• Mitochondrial dysfunction in NPC1-deficiency is not rescued by drugs targeting the glucosylceramidase GBA2 and the cholesterol-binding proteins TSPO and StARD1
• New Insights into the Importance of Dietary Cholesterol in Preventing Cardiovascular Disease
• Niemann-Pick Type C2 Proteins in <em>Aedes aegypti</em>: Molecular Modelling and Prediction of Their Structure-Function Relationships
• Niemann-Pick Type C2 Proteins in Aedes aegypti: Molecular Modelling and Prediction of Their Structure-Function Relationships
• 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 Chromosome 11p15.4 Causing Niemann-Pick Disease Type A in a Saudi Child
• Npc1 deficiency impairs microglia function via TREM2-mTOR signaling in Niemann-Pick disease type C
• NPC1 is required for postnatal islet β cell differentiation by maintaining mitochondria turnover
• Optimization of systemic AAV9 gene therapy in Niemann-Pick disease type C1 mice
• 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
• PLA2G15 is a Lysosomal BMP Hydrolase with Ester Position Specificity and its Targeting Ameliorates Lysosomal Disease
• Plasma neurofilament light chain is increased in Niemann-Pick Type C but glial fibrillary acidic protein remains normal
• Plasma neurofilament light chain is not elevated in people with first-episode psychosis or those at ultra-high risk for psychosis
• Presenilin Deficiency Results in Cellular Cholesterol Accumulation by Impairment of Protein Glycosylation and NPC1 Function
• Prosopagnosia: face blindness and its association with neurological disorders
• Pulmonary Involvement of Niemann-Pick Disease
• Ratiometric fluorescence nanoscopy and lifetime imaging of novel Nile Red analogs for analysis of membrane packing in living cells
• Real-life impacts of olipudase alfa: The experience of patients and families taking an enzyme replacement therapy for acid sphingomyelinase deficiency
• Recent and anticipated novel drug approvals (Q2 2024 through Q1 2025)
• Repositioning of ezetimibe for the treatment of idiopathic pulmonary fibrosis
• 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
• Sex-Dependent Changes to the Intestinal and Hepatic Abundance of Drug Transporters and Metabolizing Enzymes in the SOD1^G93A Mouse Model of Amyotrophic Lateral Sclerosis
• Solving the puzzle of 2-hydroxypropyl β-cyclodextrin: Detailed assignment of the substituent distribution by NMR spectroscopy
• Spatial neurolipidomics-MALDI mass spectrometry imaging of lipids in brain pathologies
• Sterol O-Acyltransferase 1 (SOAT1): A Genetic Modifier of Niemann-Pick Disease, Type C1
• Survival of patients with chronic acid sphingomyelinase deficiency (ASMD) in the United States: A retrospective chart review study
• 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 Etiologic Landscape of Lymphoproliferation in Childhood: Proposal for a Diagnostic Approach Exploring from Infections to Inborn Errors of Immunity and Metabolic Diseases
• The Genetic Basis, Lung Involvement, and Therapeutic Options in Niemann-Pick Disease: A Comprehensive Review
• The Liver and Lysosomal Storage Diseases: From Pathophysiology to Clinical Presentation, Diagnostics, and Treatment
• The paracaspase MALT1 controls cholesterol homeostasis in glioblastoma stem-like cells through lysosome proteome shaping
• 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)
• Unraveling the Connection: Cholesterol, Calcium Signaling, and Neurodegeneration
• Upregulation of NPC1 and its association with poor prognosis in gastric cancer