Article
Molecular Mechanisms of the Deregulation of Muscle Contraction Induced by the R90P Mutation in Tpm3.12 and the Weakening of This Effect by BDM and W7.
International journal of molecular sciences - 12 Jun 2021
Borovikov Yurii S, Andreeva Daria D, Avrova Stanislava V, Sirenko Vladimir V, Simonyan Armen O, Redwood Charles S, Karpicheva Olga E
Abstract excerpt
Point mutations in the genes encoding the skeletal muscle isoforms of tropomyosin can cause a range of muscle diseases. The amino acid substitution of Arg for Pro residue in the 90th position (R90P) in γ-tropomyosin (Tpm3.12) is associated with congenital fiber type disproportion and muscle weakness. The molecular mechanisms underlying muscle dysfunction in this disease remain unclear. Here, we observed that this...
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