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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Detalhes bibliográficos
Autor principal: Aerts, Johannes M. (author)
Outros Autores: 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)
Formato: article
Idioma:eng
Publicado em: 2018
Assuntos:
Lysosome
Lysosomal Storage Disorders
Glycosphingolipid
Glucocerebrosidase
Glucosylsphingosine
Gaucher Disease
Fabry Dsease
LysoGb3
Doenças Genéticas
Texto completo:http://hdl.handle.net/10400.18/5477
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/5477

Texto Completo

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

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