In-depth phenotyping of lymphoblastoid cells suggests selective cellular vulnerability in Marinesco-Sjögren syndrome

SIL1 is a ubiquitous protein of the Endoplasmic Reticulum (ER) acting as a co-chaperone for the ER-resident chaperone, BiP. Recessive mutations of the corresponding gene lead to vulnerability of skeletal muscle and central nervous system in man (Marinesco-Sjögren syndrome; MSS) and mouse. However, i...

Descripción completa

Detalles Bibliográficos
Autores principales: Kollipara, Laxmikanth, Buchkremer, Stephan, Coraspe, José Andrés González, Hathazi, Denisa, Senderek, Jan, Weis, Joachim, Zahedi, René P., Roos, Andreas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals LLC 2017
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5620273/
https://www.ncbi.nlm.nih.gov/pubmed/28978133
http://dx.doi.org/10.18632/oncotarget.19663

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5620273/
https://www.ncbi.nlm.nih.gov/pubmed/28978133
http://dx.doi.org/10.18632/oncotarget.19663

Ejemplares similares