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Raw data used to generate the structure of WT ACTG2 F-actin


ABSTRACT:

SUBMITTER: Roberto Dominguez 

PROVIDER: EMPIAR-12117 | biostudies-other |

REPOSITORIES: biostudies-other

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Publications

Molecular mechanisms linking missense ACTG2 mutations to visceral myopathy.

Ceron Rachel H RH   Báez-Cruz Faviolla A FA   Palmer Nicholas J NJ   Carman Peter J PJ   Boczkowska Malgorzata M   Heuckeroth Robert O RO   Ostap E Michael EM   Dominguez Roberto R  

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]

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