Loss-of-rescue of Ryr1(I4895T)-related pathology by the genetic inhibition of the ER stress response mediator CHOP

RYR1 is the gene encoding the ryanodine receptor 1, a calcium release channel of the endo/sarcoplasmic reticulum. I4898T in RYR1 is one of the most common mutations that give rise to central core disease (CCD), with a variable phenotype ranging from mild to severe myopathy to lethal early-onset core...

Descripción completa

Detalles Bibliográficos
Autores principales: Germani, Serena, Marchetti, Alessia Celeste, Guidarelli, Andrea, Cantoni, Orazio, Sorrentino, Vincenzo, Zito, Ester
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9712496/
https://www.ncbi.nlm.nih.gov/pubmed/36450915
http://dx.doi.org/10.1038/s41598-022-25198-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9712496/
https://www.ncbi.nlm.nih.gov/pubmed/36450915
http://dx.doi.org/10.1038/s41598-022-25198-y

Ejemplares similares