Cargando…
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...
| Autores principales: | , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2022
|
| Materias: | |
| 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 |