Associated Papers
Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.
Pinc Z et al.
Journal of Clinical Immunology, 2025
Detecting the Difficult: An Intronic NPC1 Variant Hiding in Plain Sight.
Brown CG et al.
American Journal of Medical Genetics. Part A, 2025
Exploration of Bromodomain Proteins as Drug Targets for Niemann-Pick Type C Disease.
Parente M et al.
International Journal of Molecular Sciences, 2025
Extracellular vesicles in Niemann pick disease type C: current knowledge and future opportunities.
Hawthorne SCB et al.
Frontiers in Cellular Neuroscience, 2025
Molecular determinants of phospholipid treatment to reduce intracellular cholesterol accumulation in NPC1 deficiency.
Deng S et al.
The Journal of Biological Chemistry, 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
Autophagy promotes cell survival by maintaining NAD levels.
Kataura T et al.
Developmental Cell, 2022
TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann-Pick type C1, and Batten disease.
Scotto Rosato A et al.
Embo Molecular Medicine, 2022
A neuropathological cell model derived from Niemann-Pick disease type C patient-specific iPSCs shows disruption of the p62/SQSTM1-KEAP1-NRF2 Axis and impaired formation of neuronal networks.
Saito R et al.
Molecular Genetics and Metabolism Reports, 2021
Enrichment of NPC1-deficient cells with the lipid LBPA stimulates autophagy, improves lysosomal function, and reduces cholesterol storage.
Ilnytska O et al.
The Journal of Biological Chemistry, 2021
Identification and Classification of Rare Variants in NPC1 and NPC2 in Quebec.
Touma L et al.
Scientific Reports, 2021
Genistein Activates Transcription Factor EB and Corrects Niemann-Pick C Phenotype.
Argüello G et al.
International Journal of Molecular Sciences, 2021
Beneficial effects of primidone in Niemann-Pick disease type C (NPC)-model cells and mice: Reduction of unesterified cholesterol levels in cells and extension of lifespan in mice.
Ashikawa H et al.
European Journal of Pharmacology, 2021
Loss of NPC1 enhances phagocytic uptake and impairs lipid trafficking in microglia.
Colombo A et al.
Nature Communications, 2021
Vertical saccadic palsy and foveal retinal thinning in Niemann-Pick disease type C.
Hopf S et al.
Plos One, 2021
Human iNSC-derived brain organoid model of lysosomal storage disorder in Niemann-Pick disease type C.
Lee SE et al.
Cell Death & Disease, 2020
c-Abl Inhibition Activates TFEB and Promotes Cellular Clearance in a Lysosomal Disorder.
Contreras PS et al.
Iscience, 2020
Role of induced pluripotent stem cells in lysosomal storage diseases.
Kido J et al.
Molecular and Cellular Neurosciences, 2020
Cholesterol binding to the sterol-sensing region of Niemann Pick C1 protein confines dynamics of its N-terminal domain.
Dubey V et al.
Plos Computational Biology, 2020
Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease.
Seker Yilmaz B et al.
International Journal of Molecular Sciences, 2020
Retinal axonal degeneration in Niemann-Pick type C disease.
Havla J et al.
Journal of Neurology, 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
2-Hydroxypropyl-gamma-cyclodextrin overcomes NPC1 deficiency by enhancing lysosome-ER association and autophagy.
Singhal A et al.
Scientific Reports, 2020
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
Synthetic high-density lipoprotein nanoparticles for the treatment of Niemann-Pick diseases.
Schultz ML et al.
Bmc Medicine, 2019
Quantitating the epigenetic transformation contributing to cholesterol homeostasis using Gaussian process.
Wang C et al.
Nature Communications, 2019
Intracellular cholesterol trafficking is dependent upon NPC2 interaction with lysobisphosphatidic acid.
McCauliff LA et al.
Elife, 2019
Cytosolic glucosylceramide regulates endolysosomal function in Niemann-Pick type C disease.
Wheeler S et al.
Neurobiology of Disease, 2019
Whole-exome sequencing identifies novel pathogenic variants across the ATP7B gene and some modifiers of Wilson's disease phenotype.
Kluska A et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2019
Hydroxypropyl-beta and -gamma cyclodextrins rescue cholesterol accumulation in Niemann-Pick C1 mutant cell via lysosome-associated membrane protein 1.
Singhal A et al.
Cell Death & Disease, 2018
Coordinate regulation of mutant NPC1 degradation by selective ER autophagy and MARCH6-dependent ERAD.
Schultz ML et al.
Nature Communications, 2018
Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials.
Cortina-Borja M et al.
Orphanet Journal of Rare Diseases, 2018
Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses.
Sima N et al.
Orphanet Journal of Rare Diseases, 2018
Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye.
Hocking JC et al.
Plos Genetics, 2018
Generation of patient specific human neural stem cells from Niemann-Pick disease type C patient-derived fibroblasts.
Sung EA et al.
Oncotarget, 2017
Methyl-β-cyclodextrin restores impaired autophagy flux in Niemann-Pick C1-deficient cells through activation of AMPK.
Dai S et al.
Autophagy, 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
Association of NPC1 variant p.P237S with a pathogenic splice variant in two Niemann-Pick disease type C1 patients.
Salman A et al.
American Journal of Medical Genetics. Part A, 2017
Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study.
De Castro-Orós I et al.
Journal of Translational Medicine, 2017
Establishing the precise evolutionary history of a gene improves prediction of disease-causing missense mutations.
Adebali O et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review.
Vanier MT et al.
Molecular Genetics and Metabolism, 2016
Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection.
Gong X et al.
Cell, 2016
Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease.
Mazzacuva F et al.
Febs Letters, 2016
Genetic and pharmacological evidence implicates cathepsins in Niemann-Pick C cerebellar degeneration.
Chung C et al.
Human Molecular Genetics, 2016
High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.
Wassif CA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
ABCA1-dependent sterol release: sterol molecule specificity and potential membrane domain for HDL biogenesis.
Yamauchi Y et al.
Journal of Lipid Research, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016