Globotriaosylsphingosine accumulation and not alpha-galactosidase-A deficiency causes endothelial dysfunction in Fabry disease.

<h4>Background</h4>Fabry disease (FD) is caused by a deficiency of the lysosomal enzyme alpha-galactosidase A (GLA) resulting in the accumulation of globotriaosylsphingosine (Gb3) in a variety of tissues. While GLA deficiency was always considered as the fulcrum of the disease, recent at...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Mehdi Namdar, Catherine Gebhard, Rafael Studiger, Yi Shi, Pavani Mocharla, Christian Schmied, Pedro Brugada, Thomas F Lüscher, Giovanni G Camici
Formato: article
Lenguaje:EN
Publicado: Public Library of Science (PLoS) 2012
Materias:
R
Q
Acceso en línea:https://doaj.org/article/22cdef7e000f48a58838623c6de322ef
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!