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Case study on the pathophysiology of Fabry disease: abnormalities of cellular membranes can be reversed by substrate reduction in vitro

It is still not entirely clear how α-galactosidase A (GAA) deficiency translates into clinical symptoms of Fabry disease (FD). The present communication investigates the effects of the mutation N215S in FD on the trafficking and processing of lysosomal GAA and their potential association with altera...

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Detalles Bibliográficos
Autores principales: Brogden, Graham, Shammas, Hadeel, Maalouf, Katia, Naim, Samara L., Wetzel, Gabi, Amiri, Mahdi, von Köckritz-Blickwede, Maren, Das, Anibh M., Naim, Hassan Y.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Portland Press Ltd. 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5408660/
https://www.ncbi.nlm.nih.gov/pubmed/28351893
http://dx.doi.org/10.1042/BSR20160402