Johannes N. Greve

The distinct role of actin isoforms on mechanosensing-based maturation of hiPSC-derived neurons unveiled by isoform-specific mutations

This study investigates the role of beta- and gamma-actin isoforms in neuronal mechanotransduction using mutations linked to BWCFF syndrome, revealing distinct functional consequences.

The Baraitser-Winter Cerebrofrontofacial Syndrome recurrent R196H variant in cytoplasmic β-actin impairs its cellular polymerization and stability

This study investigates the R196H mutation in β-actin, showing it reduces F-actin content and cell stiffness, weakens actin-membrane attachment, and impairs cofilin interaction.

Multiscale characterization of Caenorhabditis elegans mutants to probe functional mechanisms of human actin pathological variants

The paper uses C. elegans actin mutants to study human actinopathies, finding that mutation severity correlates with phenotypic defects in the worm model.

The SH3BGRL protein family nucleates and caps actin filaments via its conserved thioredoxin fold

This study identifies SH3BGRL proteins as non-enzymatic regulators of actin dynamics, promoting nucleation and inhibiting depolymerization through their thioredoxin fold structure.

Baraitser-Winter Syndrome Hotspot Mutation R196H in Cytoskeletal β-actin Reduces F-actin Stability and Perturbs Interaction with the Arp2/3 Complex

This paper investigates the effect of the R196H mutation in β-actin on F-actin stability and its interaction with the Arp2/3 complex, linking these changes to BWCFF pathogenesis.

Genomic and biological panoramas of non-muscle actinopathies

The paper analyzes clinical and mechanistic data from individuals with ACTB/ACTG1 variants to identify distinct disease phenotypes and molecular mechanisms of non-muscle actinopathies.