Characterization of the Biosynthesis, Processing and Kinetic Mechanism of Action of the Enzyme Deficient in Mucopolysaccharidosis IIIC

por Fan, Xiaolian, Tkachyova, Ilona, Sinha, Ankit, Rigat, Brigitte, Mahuran, Don
Publicado 2011

Impaired Glucose Tolerance in a Mouse Model of Sidt2 Deficiency

por Gao, Jialin, Gu, Xuefan, Mahuran, Don J., Wang, Zhugang, Zhang, Huiwen
Publicado 2013

NDST1 Preferred Promoter Confirmation and Identification of Corresponding Transcriptional Inhibitors as Substrate Reduction Agents for Multiple Mucopolysaccharidosis Disorders

por Tkachyova, Ilona, Fan, Xiaolian, LamHonWah, Anne-Marie, Fedyshyn, Bohdana, Tein, Ingrid, Mahuran, Don J., Schulze, Andreas
Publicado 2016

In Cellulo Examination of a Beta-Alpha Hybrid Construct of Beta-Hexosaminidase A Subunits, Reported to Interact with the GM2 Activator Protein and Hydrolyze GM2 Ganglioside

por Sinici, Incilay, Yonekawa, Sayuri, Tkachyova, Ilona, Gray, Steven J., Samulski, R. Jude, Wakarchuk, Warren, Mark, Brian L., Mahuran, Don J.
Publicado 2013

Construction of a hybrid β-hexosaminidase subunit capable of forming stable homodimers that hydrolyze GM2 ganglioside in vivo

por Tropak, Michael B, Yonekawa, Sayuri, Karumuthil-Melethil, Subha, Thompson, Patrick, Wakarchuk, Warren, Gray, Steven J, Walia, Jagdeep S, Mark, Brian L, Mahuran, Don
Publicado 2016

1-Deoxy-d-galactonojirimycins with dansyl capped N-substituents as β-galactosidase inhibitors and potential probes for G(M1) gangliosidosis affected cell lines

por Fröhlich, Richard F.G., Furneaux, Richard H., Mahuran, Don J., Saf, Robert, Stütz, Arnold E., Tropak, Michael B., Wicki, Jacqueline, Withers, Stephen G., Wrodnigg, Tanja M.
Publicado 2011

Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11

por Renvoisé, Benoît, Chang, Jaerak, Singh, Rajat, Yonekawa, Sayuri, FitzGibbon, Edmond J, Mankodi, Ami, Vanderver, Adeline, Schindler, Alice B, Toro, Camilo, Gahl, William A, Mahuran, Don J, Blackstone, Craig, Pierson, Tyler Mark
Publicado 2014

Synthesis of lipophilic 1-deoxygalactonojirimycin derivatives as D-galactosidase inhibitors

por Schitter, Georg, Scheucher, Elisabeth, Steiner, Andreas J, Stütz, Arnold E, Thonhofer, Martin, Tarling, Chris A, Withers, Stephen G, Wicki, Jacqueline, Fantur, Katrin, Paschke, Eduard, Mahuran, Don J, Rigat, Brigitte A, Tropak, Michael, Wrodnigg, Tanja M
Publicado 2010