Proteostasis regulators modulate proteasomal activity and gene expression to attenuate multiple phenotypes in Fabry disease

The lysosomal storage disorder Fabry disease is characterized by a deficiency of the lysosomal enzyme α-Galactosidase A. The observation that missense variants in the encoding GLA gene often lead to structural destabilization, endoplasmic reticulum retention and proteasomal degradation of the misfol...

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Detalles Bibliográficos
Autores principales: Seemann, Susanne, Ernst, Mathias, Cimmaruta, Chiara, Struckmann, Stephan, Cozma, Claudia, Koczan, Dirk, Knospe, Anne-Marie, Haake, Linda Rebecca, Citro, Valentina, Bräuer, Anja U., Andreotti, Giuseppina, Cubellis, Maria Vittoria, Fuellen, Georg, Hermann, Andreas, Giese, Anne-Katrin, Rolfs, Arndt, Lukas, Jan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Portland Press Ltd. 2020
Materias:
Metabolism
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6993862/
https://www.ncbi.nlm.nih.gov/pubmed/31899485
http://dx.doi.org/10.1042/BCJ20190513

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6993862/
https://www.ncbi.nlm.nih.gov/pubmed/31899485
http://dx.doi.org/10.1042/BCJ20190513

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