Pseudo-obstruction–inducing ACTG2(R257C) alters actin organization and function

Actin γ 2, smooth muscle (ACTG2) R257C mutation is the most common genetic cause of visceral myopathy. Individuals with ACTG2 mutations endure prolonged hospitalizations and surgical interventions, become dependent on intravenous nutrition and bladder catheterization, and often die in childhood. Cur...

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Detalles Bibliográficos
Autores principales: Hashmi, Sohaib Khalid, Barka, Vasia, Yang, Changsong, Schneider, Sabine, Svitkina, Tatyana M., Heuckeroth, Robert O.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7455133/
https://www.ncbi.nlm.nih.gov/pubmed/32814715
http://dx.doi.org/10.1172/jci.insight.140604

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7455133/
https://www.ncbi.nlm.nih.gov/pubmed/32814715
http://dx.doi.org/10.1172/jci.insight.140604

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