Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types

Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene coding for α-galactosidase A (α-GalA). The deleterious mutations lead to accumulation of α-GalA substrates, including globotriaosylceramide (Gb3) and globotriaosylsphingosine. Progressive glycolipid storage r...

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Detalles Bibliográficos
Autores principales: Welford, R W D, Mühlemann, A, Garzotti, M, Rickert, V, Groenen, P M A, Morand, O, Üçeyler, N, Probst, M R
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2018
Materias:
General Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6140777/
https://www.ncbi.nlm.nih.gov/pubmed/29982630
http://dx.doi.org/10.1093/hmg/ddy248

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6140777/
https://www.ncbi.nlm.nih.gov/pubmed/29982630
http://dx.doi.org/10.1093/hmg/ddy248

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