1319731-29-7Relevant articles and documents
PHARMACOLOGICAL CHAPERONES FOR ENZYME TREATMENT THERAPY
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Page/Page column 11; 29; 40; 41, (2020/03/23)
The present invention relates to therapeutic methods for the management of a patient's lysosomal storage disease by enzyme replacement therapy. The methods involve the use of combinations of, and kits containing: a) an exogenous lysosomal hydrolaseor an e
Potent and selective activity-based probes for GH27 human retaining α-galactosidases
Willems, Lianne I.,Beenakker, Thomas J. M.,Murray, Benjamin,Scheij, Saskia,Kallemeijn, Wouter W.,Boot, Rolf G.,Verhoek, Marri,Donker-Koopman, Wilma E.,Ferraz, Maria J.,Van Rijssel, Erwin R.,Florea, Bogdan I.,Codée, Jeroen D. C.,Van Der Marel, Gijsbert A.,Aerts, Johannes M. F. G.,Overkleeft, Herman S.
supporting information, p. 11622 - 11625 (2014/12/10)
Lysosomal degradation of glycosphingolipids is mediated by the consecutive action of several glycosidases. Malfunctioning of one of these hydrolases can lead to a lysosomal storage disorder such as Fabry disease, which is caused by a deficiency in α-galac