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Science Translational Medicine|November 5, 2010
Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 diseaseForbes D Porter, David E Scherrer, Michael H Lanier, et al.
Science (New York, N.Y.)|March 25, 2017
Lysosomal cholesterol activates mTORC1 via an SLC38A9-Niemann-Pick C1 signaling complexBrian M Castellano, Ashley M Thelen, Ofer Moldavski, et al.
Circulation Research|December 25, 2004
Transgenic expression of fatty acid transport protein 1 in the heart causes lipotoxic cardiomyopathyHsiu-Chiang Chiu, Attila Kovacs, Robert M Blanton, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|July 15, 2016
A New Glucocerebrosidase Chaperone Reduces α-Synuclein and Glycolipid Levels in iPSC-Derived Dopaminergic Neurons from Patients with Gaucher Disease and ParkinsonismElma Aflaki, Daniel K Borger, Nima Moaven, et al.
Ebiomedicine|June 2, 2023
A pentasaccharide for monitoring pharmacodynamic response to gene therapy in GM1 gangliosidosisPamela Kell, Rohini Sidhu, Mingxing Qian, et al.
The Journal of Biological Chemistry|December 30, 2016
Normalization of Hepatic Homeostasis in the Npc1 Mouse Model of Niemann-Pick Type C Disease Treated with the Histone Deacetylase Inhibitor VorinostatAndrew B Munkacsi, Natalie Hammond, Remy T Schneider, et al.
Molecular Genetics and Metabolism|February 9, 2020
Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C diseaseRohini Sidhu, Pamela Kell, Dennis J Dietzen, et al.
The American Journal of Clinical Nutrition|November 3, 2017
Eggs early in complementary feeding increase choline pathway biomarkers and DHA: a randomized controlled trial in EcuadorLora L Iannotti, Chessa K Lutter, William F Waters, et al.
Human Gene Therapy|January 11, 2018
AAVrh10 Gene Therapy Ameliorates Central and Peripheral Nervous System Disease in Canine Globoid Cell Leukodystrophy (Krabbe Disease)Allison M Bradbury, Mohammed A Rafi, Jessica H Bagel, et al.
The Journal of Clinical Endocrinology and Metabolism|December 15, 2015
A Diet Rich in Medium-Chain Fatty Acids Improves Systolic Function and Alters the Lipidomic Profile in Patients With Type 2 Diabetes: A Pilot StudySophia Airhart, W Todd Cade, Hui Jiang, et al.
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