Differential Analysis of Gly211Val and Gly286Val Mutations Affecting Sarco(endo)plasmic Reticulum Ca
- Resource Type
- Authors
- Eylem Emek, Akyürek; Francesca, Busato; Leonardo, Murgiano; Elisa, Bianchini; Marcello, Carotti; Dorianna, Sandonà; Cord, Drögemüller; Arcangelo, Gentile; Roberta, Sacchetto
- Source
- International journal of molecular sciences. 23(20)
- Subject
- Mammals
Proteasome Endopeptidase Complex
Sarcoplasmic Reticulum
Ubiquitin
Mutation
Humans
Animals
Cattle
Isaacs Syndrome
Endoplasmic Reticulum Stress
Muscle, Skeletal
Proteasome Inhibitors
Sarcoplasmic Reticulum Calcium-Transporting ATPases
- Language
- ISSN
- 1422-0067
Congenital pseudomyotonia in cattle (PMT) is a rare skeletal muscle disorder, clinically characterized by stiffness and by delayed muscle relaxation after exercise. Muscle relaxation impairment is due to defective content of the Sarco(endo)plasmic Reticulum Ca