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Nature Cell Biology|September 25, 2019
ER-lysosome contacts enable cholesterol sensing by mTORC1 and drive aberrant growth signalling in Niemann-Pick type CChun-Yan Lim, Oliver B Davis, Hijai R Shin, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 31, 2006
Pregnane X receptor (PXR) activation: a mechanism for neuroprotection in a mouse model of Niemann-Pick C diseaseS Joshua Langmade, Sarah E Gale, Andrey Frolov, et al.
Assay and Drug Development Technologies|June 21, 2017
Analytical Characterization of Methyl-β-Cyclodextrin for Pharmacological Activity to Reduce Lysosomal Cholesterol Accumulation in Niemann-Pick Disease Type C1 CellsRong Li, Jon Hao, Hideji Fujiwara, et al.
Ebiomedicine|June 16, 2018
Oxysterol Signatures Distinguish Age-Related Macular Degeneration from Physiologic AgingJonathan B Lin, Abdoulaye Sene, Andrea Santeford, et al.
Scientific Reports|April 20, 2018
Author Correction: Fourier Transform Infrared Microscopy Enables Guidance of Automated Mass Spectrometry Imaging to Predefined Tissue MorphologiesJan-Hinrich Rabe, Denis A Sammour, Sandra Schulz, et al.
The Journal of Biological Chemistry|March 6, 2014
Tracking the subcellular fate of 20(s)-hydroxycholesterol with click chemistry reveals a transport pathway to the GolgiSara M Peyrot, Sigrid Nachtergaele, Giovanni Luchetti, et al.
Scientific Reports|January 12, 2018
Fourier Transform Infrared Microscopy Enables Guidance of Automated Mass Spectrometry Imaging to Predefined Tissue MorphologiesJan-Hinrich Rabe, Denis A Sammour, Sandra Schulz, et al.
The Journal of Steroid Biochemistry and Molecular Biology|May 13, 2021
Whole exome sequencing and functional characterization increase diagnostic yield in siblings with a 46, XY difference of sexual development (DSD)Sofia E Luna, Daniel J Wegner, Sarah Gale, et al.
Journal of Lipid Research|July 24, 2024
Accumulation of alkyl-lysophosphatidylcholines in Niemann-Pick disease type C1Sonali Mishra, Pamela Kell, David Scherrer, et al.
Journal of Neuroscience Research|September 18, 2016
Clinical, electrophysiological, and biochemical markers of peripheral and central nervous system disease in canine globoid cell leukodystrophy (Krabbe's disease)Allison M Bradbury, Jessica H Bagel, Xuntian Jiang, et al.
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