Associated Papers
Neurogenin 2-induced central neurons generated from NPC patient-derived iPSC display attenuated neurite outgrowth while accumulating cholesterol.
Igarashi M et al.
Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids, 2025
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
Novel compound heterozygous mutations of the NPC1 gene associated with Niemann-pick disease type C: a case report and review of the literature.
Tao C et al.
Bmc Infectious Diseases, 2024
Patient-Specific iPSC-Derived Neural Differentiated and Hepatocyte-like Cells, Carrying the Compound Heterozygous Mutation p.V1023Sfs*15/p.G992R, Present the "Variant" Biochemical Phenotype of Niemann-Pick Type C1 Disease.
Völkner C et al.
International Journal of Molecular Sciences, 2021
Pluripotent Stem Cells for Disease Modeling and Drug Discovery in Niemann-Pick Type C1.
Völkner C et al.
International Journal of Molecular Sciences, 2021
Generation of an iPSC line (AKOSi004-A) from fibroblasts of a female adult NPC1 patient, carrying the compound heterozygous mutation p.Val1023Serfs*15/p.Gly992Arg and of an iPSC line (AKOSi005-A) from a female adult control individual.
Völkner C et al.
Stem Cell Research, 2020
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