Publications

Found 9 results
Filters: Keyword is Mutation  [Clear All Filters]
2019
X. Zhou, Paushter, D. H., Pagan, M. D., Kim, D., Santos, M. Nunez, Lieberman, R. L., Overkleeft, H. S., Sun, Y., Smolka, M. B., and Hu, F., “Progranulin deficiency leads to reduced glucocerebrosidase activity.”, PLoS One, vol. 14, no. 7, p. e0212382, 2019.
2018
D. J. E. Huard and Lieberman, R. L., “Progress toward development of a proteostasis drug for myocilin-associated glaucoma.”, Future Med Chem, vol. 10, no. 12, pp. 1391-1393, 2018.
2014
S. D. Orwig, Chi, P. V., Du, Y., Hill, S. E., Cavitt, M. A., Suntharalingam, A., Turnage, K. C., Dickey, C. A., France, S., Fu, H., and Lieberman, R. L., “Ligands for glaucoma-associated myocilin discovered by a generic binding assay.”, ACS Chem Biol, vol. 9, no. 2, pp. 517-25, 2014.
Y. Yu, Mena-Barragán, T., Higaki, K., Johnson, J. L., Drury, J. E., Lieberman, R. L., Nakasone, N., Ninomiya, H., Tsukimura, T., Sakuraba, H., Suzuki, Y., Nanba, E., Mellet, C. Ortiz, Fernández, J. M. García, and Ohno, K., “Molecular basis of 1-deoxygalactonojirimycin arylthiourea binding to human α-galactosidase a: pharmacological chaperoning efficacy on Fabry disease mutants.”, ACS Chem Biol, vol. 9, no. 7, pp. 1460-9, 2014.
2012
R. K. Donegan, Hill, S. E., Turnage, K. C., Orwig, S. D., and Lieberman, R. L., “The glaucoma-associated olfactomedin domain of myocilin is a novel calcium binding protein.”, J Biol Chem, vol. 287, no. 52, pp. 43370-7, 2012.
A. Suntharalingam, Abisambra, J. F., O'Leary, J. C., Koren, J., Zhang, B., Joe, M. Kuk, Blair, L. J., Hill, S. E., Jinwal, U. K., Cockman, M., Duerfeldt, A. S., Tomarev, S., Blagg, B. S. J., Lieberman, R. L., and Dickey, C. A., “Glucose-regulated protein 94 triage of mutant myocilin through endoplasmic reticulum-associated degradation subverts a more efficient autophagic clearance mechanism.”, J Biol Chem, vol. 287, no. 48, pp. 40661-9, 2012.
R. K. Donegan and Lieberman, R. L., “New direction for glaucoma therapeutics: focus on the olfactomedin domain of myocilin.”, Future Med Chem, vol. 4, no. 17, pp. 2131-4, 2012.
2011
S. D. Orwig, Tan, Y. Lei, Grimster, N. P., Yu, Z., Powers, E. T., Kelly, J. W., and Lieberman, R. L., “Binding of 3,4,5,6-tetrahydroxyazepanes to the acid-β-glucosidase active site: implications for pharmacological chaperone design for Gaucher disease.”, Biochemistry, vol. 50, no. 49, pp. 10647-57, 2011.
N. J Burns, Turnage, K. C., Walker, C. A., and Lieberman, R. L., “The stability of myocilin olfactomedin domain variants provides new insight into glaucoma as a protein misfolding disorder.”, Biochemistry, vol. 50, no. 26, pp. 5824-33, 2011.