Lysosomal Storage Diseases. For Better or Worse: Adapting to Defective Lysosomal Glycosphingolipid Breakdown

The cellular recycling of glycosphingolipids (GSLs) is mediated by specific lysosomal glycosidases. Inherited deficiencies in these enzymes cause lysosomal storage disorders. Some of the common disorders are Gaucher disease (GD) and Fabry disease (FD) resulting from the defects in lysosomal glucocer...

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Bibliographic Details
Main Author: Aerts, Johannes M. (author)
Other Authors: Ferraz, Maria J. (author), Mirzaian, Mina (author), Gaspar, Paulo (author), Oussoren, Saskia V. (author), Wisse, Patrick (author), Kuo, Chi-Lin (author), Lelieveld, Lindsey T. (author), Kytidou, Kassiani (author), Hazeu, Marc D. (author), Boer, Daphne E.C. (author), Meijer, Rianne (author), van der Lienden, Martijn J.C. (author), Chao, Daniela H.M. (author), Gabriel, Tanit L. (author), Aten, Jan (author), Overkleeft, Herman S. (author), van Eijk, Marco (author), Boot, Rolf G. (author), Marques, André R.A. (author)
Format: article
Language:eng
Published: 2018
Subjects:
Lysosome
Lysosomal Storage Disorders
Glycosphingolipid
Glucocerebrosidase
Glucosylsphingosine
Gaucher Disease
Fabry Dsease
LysoGb3
Doenças Genéticas
Online Access:http://hdl.handle.net/10400.18/5477
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/5477

Internet

http://hdl.handle.net/10400.18/5477

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