公开(公告)号：US20190195897A1

公开(公告)日：2019-06-27

申请号：US15739043

申请日：2016-06-24

Applicant: UNIVERSITEIT LEIDEN

Inventor： Johannes Maria Franciscus Gerardus AERTS ,  Hermen Steven OVERKLEEFT

IPC: G01N33/82 ,  A61K31/445 ,  G01N33/68 ,  G01N33/92

CPC classification number: G01N33/82 ,  A61K31/445 ,  C12Q1/48 ,  G01N33/6893 ,  G01N33/92 ,  G01N2400/00 ,  G01N2440/38 ,  G01N2560/00

Abstract: The invention provides means and methods for detecting a glycosylated metabolite in a sample comprising adding to the sample a compound comprising a labelled glycosyl group coupled via an O-glycosidic bond to an aglycon with a specific structural formula wherein the glycosyl group comprises at least one isotope and/or a side chain being a label for detection, and wherein the sample is screened for the presence of a glycosylated metabolite with the glycosyl group other than a glucosylceramide. The invention further provides a method of treating a disorder caused by accumulation of a glycosylated metabolite other than glucosylceramide in a subject comprising administering to the subject in need thereof a therapeutically effective amount of a glucosylceramide synthase (GCS) inhibitor.