ArticleBMC biology2021
A human iPSC-derived inducible neuronal model of Niemann-Pick disease, type C1.
Article in BMC biology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 21 citations in OpenAlex.
- PDE5A Inhibition Restricts Cancer Metastasis by Disrupting NPC1-Mediated Cholesterol Trafficking through a Noncanonical cGMP-Dependent Pathway.Cancer research · 2026Article
- HKDC1 contributes to aberrant lysosome-mitochondria contact in Niemann-Pick disease type C.bioRxiv : the preprint server for biology · 2026Article
- WDR44 drives de novo α-synuclein aggregation at the lysosomal membrane and promotes neuronal dysfunction in Parkinson's Disease.bioRxiv : the preprint server for biology · 2026Article
- Generation and characterization of human iPSC-derivedbioRxiv : the preprint server for biology · 2026Article
- Assessing Perturbations in Lysosome Health by Flow Cytometry in iPSC-Derived Human Neuron Cultures.Methods in molecular biology (Clifton, N.J.) · 2026Article
- Enzyme Activity-Based Genome-wide Screening for Modifiers of Lysosomal Glucocerebrosidase Uncovers Candidate Risk Factors for Parkinson's Disease.ACS central science · 2025Article
- Induced Pluripotent Stem Cells for the Treatment of Lysosomal Storage Disorders.Journal of inherited metabolic disease · 2025Review
- Dysregulated lipid metabolism in a retinal pigment epithelial cell model and serum of patients with age-related macular degeneration.BMC biology · 2025Article
- Exploring the potential of bacterial-derived EVs for targeted enzyme replacement therapy: mechanisms, applications, and future directions.Archives of microbiology · 2025Review
- Global cellular proteo-lipidomic profiling of diverse lysosomal storage disease mutants using nMOST.Science advances · 2025Article
- Global cellular proteo-lipidomic profiling of diverse lysosomal storage disease mutants using nMOST.bioRxiv : the preprint server for biology · 2024Article
- Endo-lysosomal dysfunction and neuronal-glial crosstalk in Niemann-Pick type C disease.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2024Review
- Multielectrode array characterization of human induced pluripotent stem cell derived neurons in co-culture with primary human astrocytes.bioRxiv : the preprint server for biology · 2024Article
- Article
- Advances in research on potential therapeutic approaches for Niemann-Pick C1 disease.Frontiers in pharmacology · 2024Review
- Neuronal endolysosomal transport and lysosomal functionality in maintaining axonostasis.The Journal of cell biology · 2022Review
- Impact of Organelle Transport Deficits on Mitophagy and Autophagy in Niemann-Pick Disease Type C.Cells · 2022Article
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNiemann-Pick disease, type C (NPC) is a childhood-onset, lethal, neurodegenerative disorder caused by autosomal recessive mutations in the genes NPC1 or NPC2 and characterized by impaired cholesterol homeostasis, a lipid essential for cellular function. Cellular cholesterol levels are tightly regulated, and mutations in either NPC1 or NPC2 lead to deficient transport and accumulation of unesterified cholesterol in the late endosome/lysosome compartment, and progressive neurodegeneration in affected individuals. Previous cell-based studies to understand the NPC cellular pathophysiology and screen for therapeutic agents have mainly used patient fibroblasts. However, these do not allow modeling the neurodegenerative aspect of NPC disease, highlighting the need for an in vitro system that permits understanding the cellular mechanisms underlying neuronal loss and identifying appropriate therapies. This study reports the development of a novel human iPSC-derived, inducible neuronal model of Niemann-Pick disease, type C1 (NPC1).
resultsWe generated a null i3Neuron (inducible × integrated × isogenic) (NPC1
conclusionOur data demonstrate the utility of this new cell line in high-throughput drug/chemical screens to identify potential therapeutic agents. The NPC1
Indexed as
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.