α-Gal A missense variants associated with Fabry disease can lead to ER stress and induction of the unfolded protein response

Anderson-Fabry Disease (FD) is an X-linked lysosomal disorder caused by mutations in GLA, the gene encoding the lysosomal hydrolase α-galactosidase A (α-Gal A), leading to accumulation of glycosphingolipids in the lysosomes. FD is a multisystemic disorder leading to progressive cardiovascular, cereb...

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Detalles Bibliográficos
Autores principales: Consolato, Francesco, De Fusco, Maurizio, Schaeffer, Céline, Pieruzzi, Federico, Scolari, Francesco, Gallieni, Maurizio, Lanzani, Chiara, Feriozzi, Sandro, Rampoldi, Luca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9636577/
https://www.ncbi.nlm.nih.gov/pubmed/36345359
http://dx.doi.org/10.1016/j.ymgmr.2022.100926

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9636577/
https://www.ncbi.nlm.nih.gov/pubmed/36345359
http://dx.doi.org/10.1016/j.ymgmr.2022.100926

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