Human skeletal myopathy myosin mutations disrupt myosin head sequestration
Myosin heavy chains encoded by MYH7 and MYH2 are abundant in human skeletal muscle and important for muscle contraction. However, it is unclear how mutations in these genes disrupt myosin structure and function leading to skeletal muscle myopathies termed myosinopathies. Here, we used multiple appro...
Main Authors: | Glenn Carrington, Abbi Hau, Sarah Kosta, Hannah F. Dugdale, Francesco Muntoni, Adele D’Amico, Peter Van den Bergh, Norma B. Romero, Edoardo Malfatti, Juan Jesus Vilchez, Anders Oldfors, Sander Pajusalu, Katrin Õunap, Marta Giralt-Pujol, Edmar Zanoteli, Kenneth S. Campbell, Hiroyuki Iwamoto, Michelle Peckham, Julien Ochala |
---|---|
Format: | Article |
Language: | English |
Published: |
American Society for Clinical investigation
2023-11-01
|
Series: | JCI Insight |
Subjects: | |
Online Access: | https://doi.org/10.1172/jci.insight.172322 |
Similar Items
-
Dominantly inherited myosin IIa myopathy caused by aberrant splicing of MYH2
by: Carola Hedberg-Oldfors, et al.
Published: (2022-11-01) -
NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy
by: Natasha Ranu, et al.
Published: (2022-12-01) -
Myosin myopathy presenting as chronic progressive external ophthalmoplegia
by: Aamna M H. Maniyar, et al.
Published: (2023-01-01) -
Myosin Storage Myopathy in C. elegans and Human Cultured Muscle Cells.
by: Martin Dahl-Halvarsson, et al.
Published: (2017-01-01) -
Myofibre Hyper-Contractility in Horses Expressing the Myosin Heavy Chain Myopathy Mutation, <i>MYH1<sup>E321G</sup></i>
by: Julien Ochala, et al.
Published: (2021-12-01)