Mucolipidosis II (I-Cell Disease) and Mucolipidosis IIIA (Classical Pseudo-Hurler Polydystrophy) Are Caused by Mutations in the GlcNAc-Phosphotransferase α/β–Subunits Precursor Gen...

Por Kudo, Mariko, Brem, Michael S., Canfield, William M.
Publicado em 2006

Functions of the α, β, and γ Subunits of UDP-GlcNAc:Lysosomal Enzyme N-Acetylglucosamine-1-phosphotransferase

Por Qian, Yi, Lee, Intaek, Lee, Wang-Sik, Qian, Meiqian, Kudo, Mariko, Canfield, William M., Lobel, Peter, Kornfeld, Stuart
Publicado em 2010

Phenotype and Genotype in Mucolipidoses II and III alpha/beta: A Study of 61 Probands

Por Cathey, Sara S., Leroy, Jules G., Wood, Tim, Eaves, Karisa, Simensen, Richard J., Kudo, Mariko, Stevenson, Roger E., Friez, Michael J.
Publicado em 2009

Cation-independent Mannose 6-Phosphate Receptor: A COMPOSITE OF DISTINCT PHOSPHOMANNOSYL BINDING SITES

Por Bohnsack, Richard N., Song, Xuezheng, Olson, Linda J., Kudo, Mariko, Gotschall, Russell R., Canfield, William M., Cummings, Richard D., Smith, David F., Dahms, Nancy M.
Publicado em 2009

Structural basis for recognition of phosphodiester-containing lysosomal enzymes by the cation-independent mannose 6-phosphate receptor

Por Olson, Linda J., Peterson, Francis C., Castonguay, Alicia, Bohnsack, Richard N., Kudo, Mariko, Gotschall, Russell R., Canfield, William M., Volkman, Brian F., Dahms, Nancy M.
Publicado em 2010

Glycoengineered Acid α-Glucosidase With Improved Efficacy at Correcting the Metabolic Aberrations and Motor Function Deficits in a Mouse Model of Pompe Disease

Por Zhu, Yunxiang, Jiang, Ji-Lei, Gumlaw, Nathan K, Zhang, Jinhua, Bercury, Scott D, Ziegler, Robin J, Lee, Karen, Kudo, Mariko, Canfield, William M, Edmunds, Timothy, Jiang, Canwen, Mattaliano, Robert J, Cheng, Seng H
Publicado em 2009