Tropomyosin mutations responsible for muscle weakness in inherited skeletal muscle diseases

2008 ◽  
pp. 20-21
Author(s):  
Julien Ochala ◽  
Anders Oldfors ◽  
Lars Larsson
Bone ◽  
2021 ◽  
pp. 116029
Author(s):  
Taro Fujimaki ◽  
Takashi Ando ◽  
Takanori Hata ◽  
Yoshihiro Takayama ◽  
Tetsuro Ohba ◽  
...  

2016 ◽  
Vol 7 (5) ◽  
pp. 604-614 ◽  
Author(s):  
Roland W. J. Hangelbroek ◽  
Parastoo Fazelzadeh ◽  
Michael Tieland ◽  
Mark V. Boekschoten ◽  
Guido J. E. J. Hooiveld ◽  
...  

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Jeffrey Y. Huang ◽  
Shih-Hsin Kan ◽  
Emilie K. Sandfeld ◽  
Nancy D. Dalton ◽  
Anthony D. Rangel ◽  
...  

Thorax ◽  
2013 ◽  
Vol 68 (Suppl 3) ◽  
pp. A133.2-A134
Author(s):  
M Fisk ◽  
N Gale ◽  
D Mohan ◽  
MN Marchong ◽  
J Forman ◽  
...  

2020 ◽  
Vol 52 (12) ◽  
pp. 1908-1925
Author(s):  
Jin Seok Woo ◽  
Seung Yeon Jeong ◽  
Ji Hee Park ◽  
Jun Hee Choi ◽  
Eun Hui Lee

AbstractCalsequestrin (CASQ) was discovered in rabbit skeletal muscle tissues in 1971 and has been considered simply a passive Ca2+-buffering protein in the sarcoplasmic reticulum (SR) that provides Ca2+ ions for various Ca2+ signals. For the past three decades, physiologists, biochemists, and structural biologists have examined the roles of the skeletal muscle type of CASQ (CASQ1) in skeletal muscle and revealed that CASQ1 has various important functions as (1) a major Ca2+-buffering protein to maintain the SR with a suitable amount of Ca2+ at each moment, (2) a dynamic Ca2+ sensor in the SR that regulates Ca2+ release from the SR to the cytosol, (3) a structural regulator for the proper formation of terminal cisternae, (4) a reverse-directional regulator of extracellular Ca2+ entries, and (5) a cause of human skeletal muscle diseases. This review is focused on understanding these functions of CASQ1 in the physiological or pathophysiological status of skeletal muscle.


2021 ◽  
Vol 32 ◽  
pp. 102341
Author(s):  
Aditi Jain ◽  
Manisha Behera ◽  
Venkatraman Ravi ◽  
Sneha Mishra ◽  
Nagalingam R. Sundaresan ◽  
...  

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