Missense Mutation Lys18Asn in Dystrophin that Triggers X-Linked Dilated Cardiomyopathy Decreases Protein Stability, Increases Protein Unfolding, and Perturbs Protein Structure, but Does Not Affect Protein Function

Genetic mutations in a vital muscle protein dystrophin trigger X-linked dilated cardiomyopathy (XLDCM). However, disease mechanisms at the fundamental protein level are not understood. Such molecular knowledge is essential for developing therapies for XLDCM. Our main objective is to understand the e...

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Detalles Bibliográficos
Autores principales: Singh, Surinder M., Bandi, Swati, Shah, Dinen D., Armstrong, Geoffrey, Mallela, Krishna M. G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4207752/
https://www.ncbi.nlm.nih.gov/pubmed/25340340
http://dx.doi.org/10.1371/journal.pone.0110439

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4207752/
https://www.ncbi.nlm.nih.gov/pubmed/25340340
http://dx.doi.org/10.1371/journal.pone.0110439

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