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JCI Insight|April 6, 2018
Macrophage microRNA-150 promotes pathological angiogenesis as seen in age-related macular degenerationJonathan B Lin, Harsh V Moolani, Abdoulaye Sene, et al.Proceedings of the National Academy of Sciences of the United States of America|September 28, 2021
IP3R-driven increases in mitochondrial Ca2+ promote neuronal death in NPC diseaseScott A Tiscione, Maria Casas, Jonathan D Horvath, et al.Biochemistry|April 25, 2014
Side-chain oxysterols modulate cholesterol accessibility through membrane remodelingAgata A Bielska, Brett N Olsen, Sarah E Gale, et al.JCI Insight|September 7, 2018
Impaired monocyte cholesterol clearance initiates age-related retinal degeneration and vision lossNorimitsu Ban, Tae Jun Lee, Abdoulaye Sene, et al.Human Molecular Genetics|July 6, 2016
Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cellsDarius Ebrahimi-Fakhari, Lara Wahlster, Fabian Bartz, et al.Pediatric Neurology|February 13, 2018
Long-Term Treatment of Niemann-Pick Type C1 Disease With Intrathecal 2-Hydroxypropyl-β-CyclodextrinElizabeth Berry-Kravis, Jamie Chin, Anne Hoffmann, et al.Cell Metabolism|July 5, 2011
Small nucleolar RNAs U32a, U33, and U35a are critical mediators of metabolic stressCarlos I Michel, Christopher L Holley, Benjamin S Scruggs, et al.Orphanet Journal of Rare Diseases|December 2, 2016
Fostering collaborative research for rare genetic disease: the example of niemann-pick type C diseaseSteven U Walkley, Cristin D Davidson, Jonathan Jacoby, et al.Gene Therapy|January 4, 2020
A novel gene editing system to treat both Tay-Sachs and Sandhoff diseasesLi Ou, Michael J Przybilla, Alexandru-Flaviu Tăbăran, et al.The Journal of Biological Chemistry|November 1, 2013
Box C/D small nucleolar RNA (snoRNA) U60 regulates intracellular cholesterol traffickingKatrina A Brandis, Sarah Gale, Sarah Jinn, et al.Pageof 17