To see a world in a grain of sand: elucidating the pathophysiology of Anderson-Fabry disease through investigations of a cellular model.
Thomaidis and colleagues have created a cellular model of Anderson-Fabry disease by 'silencing' alpha-galactosidase A (AGAL) activity in human tubular epithelial cells. Increased membrane globotriaosylceramide (Gb3/CD77) expression was observed; it is suggested that this finding may be potentially useful as a surrogate marker of disease severity. Decreased membrane Gb3/CD77 expression was observed following agalsidase-alpha treatment, providing evidence of changes in cellular phenotype in response to enzyme therapy.
Pastores
Gregory M
GM
Department of Neurology, New York University School of Medicine, New York, New York 10016, USA. gregory.pastores@med.nyu.edu
Hughes
Derralynn A
DA
D000818:Animals; D004195:Disease Models, Animal; D004847:Epithelial Cells / Q000473:pathology*; D000795:Fabry Disease / Q000209:etiology* / Q000473:pathology; D020868:Gene Silencing; D006801:Humans; D008954:Models, Biological; D000519:alpha-Galactosidase / Q000235:genetics*
D000519:alpha-Galactosidase