Article
A Restrictive Cardiomyopathy Mutation in an Invariant Proline at the Myosin Head/Rod Junction Enhances Head Flexibility and Function, Yielding Muscle Defects in Drosophila.
Journal of molecular biology - 5 Jun 2016
Achal Madhulika, Trujillo Adriana S, Melkani Girish C, Farman Gerrie P, Ocorr Karen, Viswanathan Meera C, Kaushik Gaurav, Newhard Christopher S, Glasheen Bernadette M, Melkani Anju, Suggs Jennifer A, Moore Jeffrey R, Swank Douglas M, Bodmer Rolf, Cammarato Anthony, Bernstein Sanford I
Abstract excerpt
An "invariant proline" separates the myosin S1 head from its S2 tail and is proposed to be critical for orienting S1 during its interaction with actin, a process that leads to muscle contraction. Mutation of the invariant proline to leucine (P838L) caused dominant restrictive cardiomyopathy in a pediatric patient (Karam et al., Congenit. Heart Dis. 3:138-43, 2008). Here, we use Drosophila melanogaster to model...
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