Disease: Niemann-Pick Disease
- A novel MARV glycoprotein-specific antibody with potentials of broad-spectrum neutralization to filovirus
- A retrospective study of morbidity and mortality of chronic acid sphingomyelinase deficiency in Germany
- A study on cholesterol-cholesteryl ester metabolic homeostasis and drug intervention in hyperlipidemic hamsters using UHPLC-MS/MS
- 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
- An overview of the role of Niemann-pick C1 (NPC1) in viral infections and inhibition of viral infections through NPC1 inhibitor
- 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
- Aster-dependent nonvesicular transport facilitates dietary cholesterol uptake
- Automated quantification of vacuole fusion and lipophagy in <em>Saccharomyces cerevisiae</em> from fluorescence and cryo-soft X-ray microscopy data using deep learning
- Binding of Cholesterol to the N-Terminal Domain of the NPC1L1 Transporter: Analysis of the Epimerization-Related Binding Selectivity and Loop Mutations
- Brain Organoids: A Game-Changer for Drug Testing
- Causal association between lipid-lowering drugs and female reproductive endocrine diseases: a drug-targeted Mendelian randomization study
- 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
- Chloride Homeostasis Regulates cGAS-STING Signaling
- Chlorogenic acid regulates the expression of NPC1L1 and HMGCR through PXR and SREBP2 signaling pathways and their interactions with HSP90 to maintain cholesterol homeostasis
- 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
- Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial
- Cyclodextrins as therapeutic drugs for treating lipid metabolism disorders
- 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
- 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
- Dried blood spot-based newborn screening for bile acid synthesis disorders, Zellweger spectrum disorder, and Niemann-Pick type C1 by detection of bile acid metabolites
- Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods
- Effectiveness of Maternal mRNA COVID-19 Vaccination During Pregnancy Against COVID-19-Associated Hospitalizations in Infants Aged <6 Months During SARS-CoV-2 Omicron Predominance - 20 States, March 9, 2022-May 31, 2023
- Endo-lysosomal dysfunction and neuronal-glial crosstalk in Niemann-Pick type C disease
- 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
- Examining the Role of a Functional Deficiency of Iron in Lysosomal Storage Disorders with Translational Relevance to Alzheimer's Disease
- Extensive and Persistent Dermal Melanocytosis in a Male Carrier of Mucopolysaccharidosis Type IIIC (Sanfilippo Syndrome): A Case Report
- Familial Alzheimer's disease associated with heterozygous <em>NPC1</em> mutation
- Familial Alzheimer's disease associated with heterozygous NPC1 mutation
- Filipin complex-reactive brain lesions: a cautionary tale
- Fut2 Deficiency Promotes Intestinal Stem Cell Aging by Damaging Mitochondrial Functions via Down-Regulating α1,2-Fucosylation of Asah2 and Npc1
- Genetic and sporadic forms of tauopathies-TAU as a disease driver for the majority of patients but the minority of tauopathies
- Genetic forms of tauopathies: inherited causes and implications of Alzheimer's disease-like TAU pathology in primary and secondary 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
- Glycosphingolipids 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
- 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
- Intestinal Pgc1α ablation protects from liver steatosis and fibrosis
- Isolation, characterization, and circulation sphere of a filovirus in fruit bats
- Kinetic modelling of sterol transport between plasma membrane and endo-lysosomes based on quantitative fluorescence and X-ray imaging data
- Laminarin Reduces Cholesterol Uptake and NPC1L1 Protein Expression in High-Fat Diet (HFD)-Fed Mice
- Late adult-onset Niemann Pick type C (NPC): An "atypical" typical presentation at the age of 62. Expert commentary
- 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
- 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
- MicroRNA Profile, Putative Diagnostic Biomarkers and RNA-Based Therapies in the Inherited Lipid Storage Disease Niemann-Pick Type C
- Mitochondrial dysfunction in NPC1-deficiency is not rescued by drugs targeting the glucosylceramidase GBA2 and the cholesterol-binding proteins TSPO and StARD1
- Nanoreporter Identifies Lysosomal Storage Disease Lipid Accumulation Intracranially
- Neurons regulate the esterification of bioactive lipid mediators in the brain of acid sphingomyelinase deficient mice
- New Insights into the Importance of Dietary Cholesterol in Preventing Cardiovascular 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 Disease With Bilateral Adrenal Mass
- 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 gene mutation abnormally activates the classical Wnt signalling pathway in mouse kidneys and promotes renal fibrosis
- NPC1 is required for postnatal islet β cell differentiation by maintaining mitochondria turnover
- NPC1-like phenotype, with intracellular cholesterol accumulation and altered mTORC1 signaling in models of Parkinson's disease
- NPC1L1 Plays a Novel Role in Nonalcoholic Fatty Liver Disease
- Ocular manifestation of an adult Niemann-Pick disease type B
- Overlapping Neuroimmune Mechanisms and Therapeutic Targets in Neurodegenerative Disorders
- 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
- Potential Use of the Cholesterol Transfer Inhibitor U18666A as a Potent Research Tool for the Study of Cholesterol Mechanisms in Neurodegenerative Disorders
- Prosopagnosia: face blindness and its association with neurological disorders
- Pulmonary Involvement of Niemann-Pick Disease
- Real-life impacts of olipudase alfa: The experience of patients and families taking an enzyme replacement therapy for acid sphingomyelinase deficiency
- Revisiting the interconnection between lipids and vitamin K metabolism: insights from recent research and potential therapeutic implications: a review
- 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<sup>G93A</sup> Mouse Model of Amyotrophic Lateral Sclerosis
- 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
- The expanding boundaries of sphingolipid lysosomal storage diseases; insights from Niemann-Pick disease type C
- The Genetic Basis, Lung Involvement, and Therapeutic Options in Niemann-Pick Disease: A Comprehensive Review
- The Long-term Lung and Respiratory Outcomes of Acid Sphingomyelinase Deficiency: A 10- and 20-year Follow-up Study
- The paracaspase MALT1 controls cholesterol homeostasis in glioblastoma stem-like cells through lysosome proteome shaping
- The Role of IgLON Cell Adhesion Molecules in Neurodegenerative Diseases
- 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
- Tubeimosides are pan-coronavirus and filovirus inhibitors that can block their fusion protein binding to Niemann-Pick C1
- Uncovering the Challenges of Rare Diseases: Insights From a Retrospective Cross-Sectional Study in Albania (2005-2022)
- Urinary Metabolic Distinction of Niemann-Pick Class 1 Disease through the Use of Subgroup Discovery