Key result
Rapid degradation of truncated slow TnT protein, rather than nonsense mRNA instability, protects against the potential dominant negative effect of the mutant TnT fragment in Amish nemaline myopathy.
Population
Amish nemaline myopathy patient muscle, Escherichia coli, non-muscle eukaryotic cells, C2C12 myotubes, and…
Comparison
Expression of mutant slow skeletal muscle… vs Intact exogenous TnT
Design
Preclinical
Authors
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Protective TnT degradation in animal models suggests limited dominant-negative risk; leaves open human therapeutic targeting pending validation.
Rapid degradation of truncated slow TnT protein in ANM muscle provides a protective mechanism against potential dominant negative effects of the mutant fragment.
Wang et al. (2005) studied Amish nemaline myopathy. Rapid degradation of truncated slow TnT protein, rather than nonsense mRNA instability, protects against the potential dominant negative effect of the mutant TnT fragment in Amish nemaline myopathy.
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