Use of lissamine rhodamine ceramide trihexoside as a functional assay for alpha-galactosidase A in intact cells

by Kaneski, Christine R., Schiffmann, Raphael, Brady, Roscoe O., Murray, Gary J.
Published 2010

Mucolipidosis IV consists of one complementation group

by Goldin, Ehud, Cooney, Adele, Kaneski, Christine R., Brady, Roscoe O., Schiffmann, Raphael
Published 1999

Development of a model system for neuronal dysfunction in Fabry Disease

by Kaneski, Christine R., Brady, Roscoe O., Hanover, John A., Schueler, Ulrike H.
Published in Mol Genet Metab (2016)

Establishment and Characterization of Fabry Disease Endothelial Cells with an Extended Lifespan

by Shen, Jin-Song, Meng, Xing-Li, Schiffmann, Raphael, Brady, Roscoe O., Kaneski, Christine R.
Published 2007

Isolated Ocular Disease Is Associated with Decreased Mucolipin-1 Channel Conductance

by Goldin, Ehud, Caruso, Rafael C., Benko, William, Kaneski, Christine R., Stahl, Stephanie, Schiffmann, Raphael
Published in Invest Ophthalmol Vis Sci (2008)

Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells

by Shen, Jin-Song, Meng, Xing-Li, Moore, David F., Quirk, Jane M., Shayman, James A., Schiffmann, Raphael, Kaneski, Christine R.
Published 2008

The N370S (Asn(370)→Ser) mutation affects the capacity of glucosylceramidase to interact with anionic phospholipid-containing membranes and saposin C

by Salvioli, Rosa, Tatti, Massimo, Scarpa, Susanna, Moavero, Sabrina Maria, Ciaffoni, Fiorella, Felicetti, Federica, Kaneski, Christine R., Brady, Roscoe O., Vaccaro, Anna Maria
Published 2005

PREDICTION OF RESPONSE OF MUTATED α-GALACTOSIDASE A TO A PHARMACOLOGICAL CHAPERONE

by Shin, Sang H., Kluepfel-Stahl, Stefanie, Cooney, Adele M., Kaneski, Christine R., Quirk, Jane M., Schiffmann, Raphael, Brady, Roscoe O., Murray, Gary J.
Published 2008

Screening for Pharmacological Chaperones in Fabry Disease

by Shin, Sang-Hoon, Murray, Gary J., Kluepfel-Stahl, Stefanie, Cooney, Adele M., Quirk, Jane M., Schiffmann, Raphael, Brady, Roscoe O., Kaneski, Christine R.
Published 2007

Ovarian Failure Related to Eukaryotic Initiation Factor 2B Mutations

by Fogli, Anne, Rodriguez, Diana, Eymard-Pierre, Eléonore, Bouhour, Françoise, Labauge, Pierre, Meaney, Brandon F., Zeesman, Susan, Kaneski, Christine R., Schiffmann, Raphael, Boespflug-Tanguy, Odile
Published 2003

Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl

by Lu, Jie, Chiang, Jeffrey, Iyer, Rajiv R., Thompson, Eli, Kaneski, Christine R., Xu, David S., Yang, Chunzhang, Chen, Masako, Hodes, Richard J., Lonser, Russell R., Brady, Roscoe O., Zhuang, Zhengping
Published 2010

Insertion of Mutant Proteolipid Protein Results in Missorting of Myelin Proteins

by Vaurs-Barriere, Catherine, Wong, Kondi, Weibel, Thais D., Abu-Asab, Mones, Weiss, Michael D., Kaneski, Christine R., Mixon, Tong-Hui, Bonavita, Simona, Creveaux, Isabelle, Heiss, John D., Tsokos, Maria, Goldin, Ehud, Quarles, Richard H., Boespflug-Tanguy, Odile, Schiffmann, Raphael
Published in Ann Neurol (2003)