Article
Human disease-causing mutations result in loss of leiomodin 2 through nonsense-mediated mRNA decay.
PLoS genetics - 1 May 2024
Pappas Christopher T, Mayfield Rachel M, Dickerson Ava E, Mi-Mi Lei, Gregorio Carol C
Abstract excerpt
The leiomodin (Lmod) family of actin-binding proteins play a critical role in muscle function, highlighted by the fact that mutations in all three family members (LMOD1-3) result in human myopathies. Mutations in the cardiac predominant isoform, LMOD2 lead to severe neonatal dilated cardiomyopathy. Most of the disease-causing mutations in the LMOD gene family are nonsense, or frameshift, mutations predicted to...
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