Associated Papers
Molecular Mechanisms of Pathologies of Skeletal and Cardiac Muscles Caused by Point Mutations in the Tropomyosin Genes.
Matyushenko AM et al.
Biochemistry. Biokhimiia, 2020
Cullin-3 dependent deregulation of ACTN1 represents a new pathogenic mechanism in nemaline myopathy.
Blondelle J et al.
Jci Insight, 2019
Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families.
Li S et al.
Bmc Medical Genetics, 2018
Myopathy-causing Q147P TPM2 mutation shifts tropomyosin strands further towards the open position and increases the proportion of strong-binding cross-bridges during the ATPase cycle.
Karpicheva OE et al.
Biochimica Et Biophysica Acta, 2016
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.
Marttila M et al.
Human Mutation, 2014
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