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Plos One|October 15, 2014
Neurologic abnormalities in mouse models of the lysosomal storage disorders mucolipidosis II and mucolipidosis III γRachel A Idol, David F Wozniak, Hideji Fujiwara, et al.
Journal of Immunology (Baltimore, Md. : 1950)|December 12, 2001
CD46/CD3 costimulation induces morphological changes of human T cells and activation of Vav, Rac, and extracellular signal-regulated kinase mitogen-activated protein kinaseY Zaffran, O Destaing, A Roux, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|March 28, 2018
19q13.12 microdeletion syndrome fibroblasts display abnormal storage of cholesterol and sphingolipids in the endo-lysosomal systemKexin Zhao, Aarnoud van der Spoel, Claudia Castiglioni, et al.
Biomedical Chromatography : BMC|March 9, 2018
A HILIC-MS/MS method for simultaneous quantification of the lysosomal disease markers galactosylsphingosine and glucosylsphingosine in mouse serumRohini Sidhu, Christina R Mikulka, Hideji Fujiwara, et al.
The Journal of Biological Chemistry|March 21, 2015
Cytosolic accumulation of small nucleolar RNAs (snoRNAs) is dynamically regulated by NADPH oxidaseChristopher L Holley, Melissa W Li, Benjamin S Scruggs, et al.
Journal of Lipid Research|November 18, 2003
The steroidal analog GW707 activates the SREBP pathway through disruption of intracellular cholesterol traffickingJessie Zhang, Nicole Dudley-Rucker, Jan R Crowley, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 12, 2003
Triglyceride accumulation protects against fatty acid-induced lipotoxicityLaura L Listenberger, Xianlin Han, Sarah E Lewis, et al.
Orphanet Journal of Rare Diseases|February 26, 2013
Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicatorsMiriam Stampfer, Susanne Theiss, Yasmina Amraoui, et al.
The Journal of Biological Chemistry|January 25, 2008
Niemann-Pick type C1 I1061T mutant encodes a functional protein that is selected for endoplasmic reticulum-associated degradation due to protein misfoldingMark E Gelsthorpe, Nikola Baumann, Elizabeth Millard, et al.
Journal of Lipid Research|May 13, 2020
Alterations in plasma triglycerides and ceramides: links with cardiac function in humans with type 2 diabetesLinda R Peterson, Xuntian Jiang, Ling Chen, et al.
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