News & Publications for:

Daniel Ory

Rpl13a small nucleolar RNAs regulate systemic glucose metabolism

Posted on December 30, 2016

Lee J, Harris AN, Holley CL, et al: 2016 Journal of Clinical Investigation, 126(12), pp 4616-4625 Read More

Posted in: HPAN, Lysosome, Neurodegeneration, NeuroRestorative Therapy, Publications Faculty: ,

A murine Niemann-Pick C1 (NPC1) I1061T knockin model recapitulates the pathological features of the most prevalent human disease allele

Posted on October 20, 2016

Praggastis M, Tortelli B, Zhang J, Fujiwara H, Sidhu R, Chacko A, Chen Z, Lieberman AP, Davidson C, Walkley SU, Pipalia NH, Maxfield FR, Schaffer JE, and Ory DS: 2015 J Neuroscience, 35:8091-8106. PMCID: PMC4444535 Read More

Posted in: HPAN, Lysosome, Neurodegeneration, Publications Faculty:

Development of a bile acid-based newborn screen for Niemann-Pick disease type C

Posted on June 5, 2016

Jiang X, Sidhu R, Mydock-McGrane L, et al: 2016 Science Translational Medicine, 8(337) Read More

Posted in: HPAN, Lysosome, Neurodegeneration, Publications Faculty:

Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease

Posted on April 9, 2015

Vite CH, Bagel JH, Swain GP, et al: 2015 Science Translational Medicine, 7(276), art number 276ra26 Read More

Posted in: HPAN, Lysosome, Neurodegeneration, Publications Faculty: