The distal arthrogryposis‐linked p.R63C variant promotes the stability and nuclear accumulation of TNNT3

BACKGROUND: Distal arthrogryposis (DA) is comprised of a group of rare developmental disorders in muscle, characterized by multiple congenital contractures of the distal limbs. Fast skeletal muscle troponin‐T (TNNT3) protein is abundantly expressed in skeletal muscle and plays an important role in D...

Descripción completa

Detalles Bibliográficos
Autores principales: Lu, Jinfang, Li, Huanzheng, Zhang, He, Lin, Zhengxiu, Xu, Chenyang, Xu, Xueqin, Hu, Lin, Luan, Zhaotang, Lou, Yongliang, Tang, Shaohua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8649346/
https://www.ncbi.nlm.nih.gov/pubmed/34766372
http://dx.doi.org/10.1002/jcla.24089

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8649346/
https://www.ncbi.nlm.nih.gov/pubmed/34766372
http://dx.doi.org/10.1002/jcla.24089

Ejemplares similares