Associated Papers
Efficacy and safety of efavirenz in Niemann-Pick disease type C.
Gascón-Bayarri J et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2025
Advances in mass spectrometry of lipids for the investigation of Niemann-pick type C disease.
Javanshad R et al.
Lipids in Health and Disease, 2025
Sex-dependent upregulation in oxylipins involved in inflammation resolution in the cerebellum of Niemann-Pick disease C1 mice.
Camunas-Alberca SM et al.
Progress in Neuro-psychopharmacology & Biological Psychiatry, 2025
Secondary deficiency of neuraminidase 1 contributes to CNS pathology in neurological mucopolysaccharidoses via hypersialylation of brain glycoproteins.
Xu T et al.
Biorxiv : the Preprint Server for Biology, 2024
Endo-lysosomal dysfunction and neuronal-glial crosstalk in Niemann-Pick type C disease.
Malara M et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2024
Cholesterol redistribution triggered by CYP46A1 gene therapy improves major hallmarks of Niemann-Pick type C disease but is not sufficient to halt neurodegeneration.
Nunes MJ et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2024
Advances in research on potential therapeutic approaches for Niemann-Pick C1 disease.
Zhang C et al.
Frontiers in Pharmacology, 2024
Niemann-Pick Disease Type C (NPDC) by Mutation of NPC1 and NPC2: Aberrant Lysosomal Cholesterol Trafficking and Oxidative Stress.
Lee D et al.
Antioxidants (basel, Switzerland), 2023
Reduced Cerebellar BDNF Availability Affects Postnatal Differentiation and Maturation of Granule Cells in a Mouse Model of Cholesterol Dyshomeostasis.
Lucarelli M et al.
Molecular Neurobiology, 2023
Alterations in Cholesterol and Phosphoinositides Levels in the Intracellular Cholesterol Trafficking Disorder NPC.
Cologna SM et al.
Advances in Experimental Medicine and Biology, 2023
Efficacy and safety clinical trial with efavirenz in patients diagnosed with adult Niemann-pick type C with cognitive impairment.
Gascón-Bayarri J et al.
Medicine, 2022
Activation of mitochondrial TRAP1 stimulates mitochondria-lysosome crosstalk and correction of lysosomal dysfunction.
Chen FW et al.
Iscience, 2022
Mass spectrometry-based proteomics in neurodegenerative lysosomal storage disorders.
Li W et al.
Molecular Omics, 2022
Acat1/Soat1 knockout extends the mutant Npc1 mouse lifespan and ameliorates functional deficiencies in multiple organelles of mutant cells.
Rogers MA et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Inhibition of Histone Deacetylases 1, 2, and 3 Enhances Clearance of Cholesterol Accumulation in Niemann-Pick C1 Fibroblasts.
Cruz DL et al.
Acs Pharmacology & Translational Science, 2021
The role of Niemann-Pick type C2 in zebrafish embryonic development.
Tseng WC et al.
Development (cambridge, England), 2021
Modeling Brain Pathology of Niemann-Pick Disease Type C Using Patient-Derived Neurons.
Burbulla LF et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
Understanding and Treating Niemann-Pick Type C Disease: Models Matter.
Pallottini V et al.
International Journal of Molecular Sciences, 2020
Correction of Niemann-Pick type C1 trafficking and activity with the histone deacetylase inhibitor valproic acid.
Subramanian K et al.
The Journal of Biological Chemistry, 2020
Iron chelation by deferiprone does not rescue the Niemann-Pick Disease Type C1 mouse model.
Hung YH et al.
Biometals : an International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine, 2020
Individualized management of genetic diversity in Niemann-Pick C1 through modulation of the Hsp70 chaperone system.
Wang C et al.
Human Molecular Genetics, 2020
Pre-clinical Mouse Models of Neurodegenerative Lysosomal Storage Diseases.
Favret JM et al.
Frontiers in Molecular Biosciences, 2020
Excitatory Amino Acid Transporters in Physiology and Disorders of the Central Nervous System.
Malik AR et al.
International Journal of Molecular Sciences, 2019
Quantitating the epigenetic transformation contributing to cholesterol homeostasis using Gaussian process.
Wang C et al.
Nature Communications, 2019
NPC1 enables cholesterol mobilization during long-term potentiation that can be restored in Niemann-Pick disease type C by CYP46A1 activation.
Mitroi DN et al.
Embo Reports, 2019
Increased interactions and engulfment of dendrites by microglia precede Purkinje cell degeneration in a mouse model of Niemann Pick Type-C.
Kavetsky L et al.
Scientific Reports, 2019
2-Hydroxypropyl-β-cyclodextrin is the active component in a triple combination formulation for treatment of Niemann-Pick C1 disease.
Davidson J et al.
Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids, 2019
The endocannabinoid system is affected by cholesterol dyshomeostasis: Insights from a murine model of Niemann Pick type C disease.
Oddi S et al.
Neurobiology of Disease, 2019
Anomalies in Dopamine Transporter Expression and Primary Cilium Distribution in the Dorsal Striatum of a Mouse Model of Niemann-Pick C1 Disease.
Lucarelli M et al.
Frontiers in Cellular Neuroscience, 2019
The Extending Spectrum of NPC1-Related Human Disorders: From Niemann-Pick C1 Disease to Obesity.
Lamri A et al.
Endocrine Reviews, 2018
Tolerance of chronic HDACi treatment for neurological, visceral and lung Niemann-Pick Type C disease in mice.
Alam MS et al.
Scientific Reports, 2018
Quantitative Analysis of the Proteome Response to the Histone Deacetylase Inhibitor (HDACi) Vorinostat in Niemann-Pick Type C1 disease.
Subramanian K et al.
Molecular & Cellular Proteomics : Mcp, 2017
Exacerbating and reversing lysosomal storage diseases: from yeast to humans.
Rajakumar T et al.
Microbial Cell (graz, Austria), 2017
Histone deacetylase inhibitors correct the cholesterol storage defect in most Niemann-Pick C1 mutant cells.
Pipalia NH et al.
Journal of Lipid Research, 2017
Normalization of Hepatic Homeostasis in the Npc1nmf164 Mouse Model of Niemann-Pick Type C Disease Treated with the Histone Deacetylase Inhibitor Vorinostat.
Munkacsi AB et al.
The Journal of Biological Chemistry, 2017
Modeling Niemann Pick type C1 using human embryonic and induced pluripotent stem cells.
Ordoñez MP et al.
Brain Research, 2017
1H NMR-Linked Metabolomics Analysis of Liver from a Mouse Model of NP-C1 Disease.
Ruiz-Rodado V et al.
Journal of Proteome Research, 2016
Developmental delay in motor skill acquisition in Niemann-Pick C1 mice reveals abnormal cerebellar morphogenesis.
Caporali P et al.
Acta Neuropathologica Communications, 2016
Gpnmb Is a Potential Marker for the Visceral Pathology in Niemann-Pick Type C Disease.
Marques AR et al.
Plos One, 2016
A murine Niemann-Pick C1 I1061T knock-in model recapitulates the pathological features of the most prevalent human disease allele.
Praggastis M et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2015
Complex lipid trafficking in Niemann-Pick disease type C.
Vanier MT
Journal of Inherited Metabolic Disease, 2015
Niemann-Pick C disease and mobilization of lysosomal cholesterol by cyclodextrin.
Vance JE et al.
Journal of Lipid Research, 2014
Plasma signature of neurological disease in the monogenetic disorder Niemann-Pick Type C.
Alam MS et al.
The Journal of Biological Chemistry, 2014
Characterization of a spontaneous novel mutation in the NPC2 gene in a cat affected by Niemann Pick type C disease.
Zampieri S et al.
Plos One, 2014
Treatment of Niemann--pick type C disease by histone deacetylase inhibitors.
Helquist P et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2013
A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient's skin.
Bergamin N et al.
Orphanet Journal of Rare Diseases, 2013
The role of decreased levels of Niemann-Pick C1 intracellular cholesterol transport on obesity is reversed in the C57BL/6J, metabolic syndrome mouse strain: a metabolic or an inflammatory effect?
Borbon I et al.
Journal of Applied Genetics, 2012
A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations.
Maue RA et al.
Human Molecular Genetics, 2012