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Article

Decreased calcium flux in Niemann-Pick type C1 patient-specific iPSC-derived neurons due to higher amount of calcium-impermeable AMPA receptors.

Molecular and cellular neurosciences - 1 Sept 2017

Rabenstein Michael, Peter Franziska, Joost Sarah, Trilck Michaela, 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, resulting mainly in the accumulation of cholesterol and the ganglioside GM2. Recently, we described accumulations of these lipids in neuronal differentiated cells derived from NPC1 patient-specific induced pluripotent stem cells (iPSCs). As these lipids are essential for proper cell membrane...

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Source

Identifiers

PMID: 28666962
DOI: 10.1016/j.mcn.2017.06.007

Genes

NPC1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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