Dataset Information
Raw data used to generate the structure of R257C ACTG2 F-actin
Ontology highlight
ABSTRACT:
SUBMITTER: Roberto Dominguez
PROVIDER: EMPIAR-12118 | biostudies-other |
REPOSITORIES: biostudies-other
Publications
Molecular mechanisms linking missense ACTG2 mutations to visceral myopathy.
Science advances 20240531 22
Visceral myopathy is a life-threatening disease characterized by muscle weakness in the bowel, bladder, and uterus. Mutations in smooth muscle γ-actin (ACTG2) are the most common cause of the disease, but the mechanisms by which the mutations alter muscle function are unknown. Here, we examined four prevalent ACTG2 mutations (R40C, R148C, R178C, and R257C) that cause different disease severity and are spread throughout the actin fold. R178C displayed premature degradation, R148C disrupted intera ...[more]
