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Reduced α-galactosidase A activity in zebrafish (Danio rerio) mirrors distinct features of Fabry nephropathy phenotype

Fabry disease (FD) is a rare genetic lysosomal storage disorder, resulting from partial or complete lack of alpha-galactosidase A (α-GAL) enzyme, leading to systemic accumulation of substrate glycosphingolipids with a broad range of tissue damage. Current in vivo models are laborious, expensive, and...

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Detalles Bibliográficos
Autores principales: Elsaid, Hassan O.A., Furriol, Jessica, Blomqvist, Maria, Diswall, Mette, Leh, Sabine, Gharbi, Naouel, Anonsen, Jan Haug, Babickova, Janka, Tøndel, Camilla, Svarstad, Einar, Marti, Hans-Peter, Krause, Maximilian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8857658/
https://www.ncbi.nlm.nih.gov/pubmed/35242583
http://dx.doi.org/10.1016/j.ymgmr.2022.100851