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

Por Kaneski, Christine R., Schiffmann, Raphael, Brady, Roscoe O., Murray, Gary J.
Publicado em 2010

Mucolipidosis IV consists of one complementation group

Por Goldin, Ehud, Cooney, Adele, Kaneski, Christine R., Brady, Roscoe O., Schiffmann, Raphael
Publicado em 1999

Development of a model system for neuronal dysfunction in Fabry Disease

Por Kaneski, Christine R., Brady, Roscoe O., Hanover, John A., Schueler, Ulrike H.
Publicado no Mol Genet Metab (2016)

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

Por Shen, Jin-Song, Meng, Xing-Li, Schiffmann, Raphael, Brady, Roscoe O., Kaneski, Christine R.
Publicado em 2007

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

Por Goldin, Ehud, Caruso, Rafael C., Benko, William, Kaneski, Christine R., Stahl, Stephanie, Schiffmann, Raphael
Publicado no Invest Ophthalmol Vis Sci (2008)

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

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

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

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

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

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

Screening for Pharmacological Chaperones in Fabry Disease

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

Ovarian Failure Related to Eukaryotic Initiation Factor 2B Mutations

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

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

Por 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
Publicado em 2010

Insertion of Mutant Proteolipid Protein Results in Missorting of Myelin Proteins

Por 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
Publicado no Ann Neurol (2003)