Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Diversity of glycosphingolipid GM2 and cholesterol accumulation in NPC1 patient-specific iPSC-derived neurons.

Brain research - 15 Feb 2017

Trilck Michaela, Peter Franziska, Zheng Chaonan, Frank Marcus, Dobrenis Kostantin, Mascher Hermann, Rolfs Arndt, Frech Moritz J

Abstract excerpt

Niemann-Pick disease Type C1 (NPC1) is a rare progressive neurodegenerative disorder caused by mutations in the NPC1 gene. On the cellular level NPC1 mutations lead to an accumulation of cholesterol and gangliosides. As a thorough analysis of the severely affected neuronal cells is unfeasible in NPC1 patients, we recently described the cellular phenotype of neuronal cells derived from NPC1 patient iPSCs carrying...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to G(M2) Ganglioside
Share to Hexosaminidase A

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Induced Pluripotent Stem Cells

Share to Molecular Docking Simulation

Share to Neural Stem Cells

Share to Neuroglia

Share to Niemann-Pick C1 Protein

Share to Niemann-Pick Disease, Type C

Source

Identifiers

PMID: 27923633
DOI: 10.1016/j.brainres.2016.11.031

Genes

NPC1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Diversity of glycosphingolipid GM2 and cholesterol accumulation in NPC1 patient-specific iPSC-derived neurons.PMID 27923633Read ↗

A human iPSC-derived inducible neuronal model of Niemann-Pick disease, type C1Semantic proximity Read ↗

Pathophysiological In Vitro Profile of Neuronal Differentiated Cells Derived from Niemann-Pick Disease Type C2 Patient-Specific iPSCs Carrying the NPC2 Mutations c.58G>T/c.140G>T.Semantic proximity Read ↗

Differential Trafficking Phenotypes of NPC1 Mutant Proteins Reveal Distinct Cholesterol Accumulation Profiles.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Generation and characterization of human iPSC-derived <i> NPC1 <sup>I1061T/I10161T</sup> </i> i <sup>3</sup> Neurons as a model for NPC1 diseaseSemantic proximity Read ↗

Pluripotent Stem Cells for Disease Modeling and Drug Discovery in Niemann-Pick Type C1.Semantic proximity Read ↗

Mechanisms and consequences of impaired lipid trafficking in Niemann-Pick type C1-deficient mammalian cells.Semantic proximity Read ↗

Niemann-Pick type C1 patient-specific induced pluripotent stem cells display disease specific hallmarks.Semantic proximity Read ↗

Different Niemann-Pick C1 Genotypes Generate Protein Phenotypes that Vary in their Intracellular Processing, Trafficking and LocalizationSemantic proximity Read ↗

Complex lipid trafficking in Niemann-Pick disease type C.Semantic proximity Read ↗

Quantitative Proteomics of Human Fibroblasts with I1061T Mutation in Niemann-Pick C1 (NPC1) Protein Provides Insights into the Disease Pathogenesis.Semantic proximity Read ↗

Endosomal/lysosomal processing of gangliosides affects neuronal cholesterol sequestration in Niemann-Pick disease type C.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.