Associated Papers
Energy landscapes reveal the myopathic effects of tropomyosin mutations.
Orzechowski M et al.
Archives of Biochemistry and Biophysics, 2014
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
Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations.
Marttila M et al.
Skeletal Muscle, 2014
Alterations at the cross-bridge level are associated with a paradoxical gain of muscle function in vivo in a mouse model of nemaline myopathy.
Gineste C et al.
Plos One, 2014
Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients.
Marston S et al.
Human Molecular Genetics, 2013
Skeletal muscle myopathy mutations at the actin tropomyosin interface that cause gain- or loss-of-function.
Memo M et al.
Journal of Muscle Research and Cell Motility, 2013
Myopathies associated with β-tropomyosin mutations.
Tajsharghi H et al.
Neuromuscular Disorders : Nmd, 2012
Abnormal actin binding of aberrant β-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy.
Marttila M et al.
The Biochemical Journal, 2012
The effect of the Asp175Asn and Glu180Gly TPM1 mutations on actin-myosin interaction during the ATPase cycle.
Rysev NA et al.
Biochimica Et Biophysica Acta, 2012
Defective regulation of contractile function in muscle fibres carrying an E41K beta-tropomyosin mutation.
Ochala J et al.
The Journal of Physiology, 2008
Skeletal muscle disease due to mutations in tropomyosin, troponin and cofilin.
Clarke NF
Advances in Experimental Medicine and Biology, 2008
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