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).
Muscle fibers are weak in the absence of Neb in particular when large tension develops which may structurally damage the thin filament when Neb is absent.
Pnn downregulation in skeletal muscle causes a muscular dystrophic phenotype associated with NEB deficiency and the CCD domain is incapable of replacing full length Pnn in terms of functional capacity.
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