Publications by authors named "Fabio Piaser"
Article Synopsis
- Nemaline myopathy (NM) is a congenital muscle disorder affecting about 1 in 150,000 live births, primarily caused by mutations in the nebulin protein, which is crucial for muscle structure and function.
- Recent research indicates that the SH3 domain of nebulin plays a significant role in muscle function, particularly in the formation of actin filaments within the muscle cell structure, known as the Z-line.
- In a study using a mouse model lacking the SH3 domain of nebulin, no major structural muscle abnormalities were found, but the muscle was more vulnerable to injuries from eccentric contractions, highlighting the importance of this domain in protecting muscles during strenuous activities.
This study investigated the stability of the measurement of respiratory variables during rest, walking and running using the K4b(2) portable metabolic analyser in ten active males (age 31 ± 11 years; VO₂ peak 42.1 ± 2.6 ml · min(-1) · kg(-1)).
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