Aberrations in Energetic Metabolism and Stress-Related Pathways Contribute to Pathophysiology in the Neb Conditional Knockout Mouse Model of Nemaline Myopathy.
Study found that adult nebulin-deficient mice displayed severe muscle atrophy and weakness in vivo related to a low nebulin content but an improved fatigue resistance due to a slower contractile phenotype.
To study the functions of nebulin's C-terminus we generated a mouse model deleting the final two unique C-terminal domains the serine-rich region (SRR) and the SH3 domain (NebDelta163-165).
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