Degradation of blood group A glycolipid A-6-2 by normal and mutant human skin fibroblasts

by Befekadu Asfaw, Detlev Schindler, Jana Ledvinová, Bohuslav Černý, František Šmíd, Ernst Conzelmann
Published 1998-09-01

N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV

by Lauren C. Boudewyn, Jakub Sikora, Ladislav Kuchar, Jana Ledvinova, Yulia Grishchuk, Shirley L. Wang, Kostantin Dobrenis, Steven U. Walkley
Published 2017-09-01

Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases

by Befekadu Asfaw, Jana Ledvinová, Robert Dobrovolńy, Henk D. Bakker, Robert J. Desnick, Otto P. van Diggelen, Jan G.N. de Jong, Tamotsu Kanzaki, Amparo Chabas, Irene Maire, Ernst Conzelmann, Detlev Schindler
Published 2002-07-01

Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations

by Dita Musalkova, Filip Majer, Ladislav Kuchar, Ondrej Luksan, Befekadu Asfaw, Hana Vlaskova, Gabriela Storkanova, Martin Reboun, Helena Poupetova, Helena Jahnova, Helena Hulkova, Jana Ledvinova, Lenka Dvorakova, Jakub Sikora, Milan Jirsa, Marie T. Vanier, Martin Hrebicek
Published 2020-04-01