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Showing 1 to 2 of 2 for “"Myopathies, Nemaline"”.
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Myogenic Effectors and Disease
… the Kelch protein Klhl41 in mice causes severe nemaline myopathy, including neonatal lethality and aggregation of contractile proteins in muscle, particularly Nebulin. Molecularly, Klhl41 acts as a chaperone for Nebulin, and N-terminal poly-ubiquitination of Klhl41 acts as a signal to regulate …
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Discovery of New Regulatory Proteins and Mechanisms in Muscle Biology and Disease
… Genetic deletion of Klhl40 in mice results in a nemaline myopathy-like phenotype with disruption of sarcomere function causing neonatal lethality. Nemaline myopathy (NM) typically results from sarcomere thin filament dysfunction, but the molecular function of Klhl40 is not known. We found that …