Arimoclomol and levacetylleucine for the treatment of neurologic manifestations of Niemann-Pick disease type C: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG). [PDF]
Genet Med OpenRodriguez-Gil JL +4 more
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NPC1 trafficking via VPS41-dependent LAMP carriers regulates endosomal cholesterol homeostasis. [PDF]
Proc Natl Acad Sci U S ANdoj K +10 more
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Genetic and laboratory diagnostic approach in Niemann Pick disease type C [PDF]
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Targeting Pathways Implicated in Cholesterol Metabolism for Novel Cancer Therapy. [PDF]
Cancers (Basel)Zhou Y +15 more
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Experimental neurotransplantation treatment for hereditary cerebellar ataxias [PDF]
, 2016 Jan Cendelin
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Fighting fire with fire: PLA2G15 inhibition mobilizes BMP lipids to combat NPC1 disease. [PDF]
Metabol OpenMeng W, Liu J, Huang X.
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Dietary curcumin prevents hypercholesterolemia by inhibiting the transcriptional activity of SREBP-2 and HNF1α and reducing intestinal and hepatic NPC1L1 expression in high-fat diet-fed hamsters. [PDF]
Nutr Metab (Lond)Cao Z +5 more
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Exploring the relationship between lipid-lowering drug target genes and sensorineural hearing loss by Mendelian randomization. [PDF]
Medicine (Baltimore)Yang Y, Huang HF, Pu KL.
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Advances in Beyond Statin Lipid Therapies for ASCVD Risk Reduction. [PDF]
J Atheroscler ThrombShimabukuro M.
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Comparison of neonatal systemic and intracerebroventricular AAV9 gene therapy delivery demonstrating improved behavioral and phenotypic outcomes in a mouse model of Niemann-Pick disease, type C1. [PDF]
PLoS OneEpstein BE +6 more
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