Identification of Brain-Specific Treatment Effects in NPC1 Disease by Focusing on Cellular and Molecular Changes of Sphingosine-1-Phosphate Metabolism.

doi:10.3390/ijms21124502

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Article

Identification of Brain-Specific Treatment Effects in NPC1 Disease by Focusing on Cellular and Molecular Changes of Sphingosine-1-Phosphate Metabolism.

International journal of molecular sciences - 24 Jun 2020

Gläser Anne, Hammerl Franziska, Gräler Markus H, Coldewey Sina M, Völkner Christin, Frech Moritz J, Yang Fan, Luo Jiankai, Tönnies Eric, von Bohlen Und Halbach Oliver, Brandt Nicola, Heimes Diana, Neßlauer Anna-Maria, Korenke Georg Christoph, Owczarek-Lipska Marta, Neidhardt John, Rolfs Arndt, Wree Andreas, Witt Martin, Bräuer Anja Ursula

Abstract excerpt

Niemann-Pick type C1 (NPC1) is a lysosomal storage disorder, inherited as an autosomal-recessive trait. Mutations in the Npc1 gene result in malfunction of the NPC1 protein, leading to an accumulation of unesterified cholesterol and glycosphingolipids. Beside visceral symptoms like hepatosplenomegaly, severe neurological symptoms such as ataxia occur. Here, we analyzed the sphingosine-1-phosphate (S1P)/S1P...

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PMID: 32599915
DOI: 10.3390/ijms21124502
PMCID: PMC7352403

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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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