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

Author:

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

Publisher

Elsevier BV

Subject

Developmental Biology,Clinical Neurology,Molecular Biology,General Neuroscience

Reference47 articles.

1. Membrane lipids regulate ganglioside GM2 catabolism and GM2 activator protein activity;Anheuser;J. Lipid Res.,2015

2. NPC1: complete genomic sequence, mutation analysis, and characterization of haplotypes;Bauer;Hum. Mutat.,2002

3. Phenotypic heterogeneity of Niemann-Pick disease type C in monozygotic twins;Benussi;J. Neurol.,2014

4. A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient’s skin;Bergamin;Orphanet J. Rare Dis.,2013

5. A guided tour into subcellular colocalization analysis in light microscopy;Bolte;J. Microsc.,2006

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