Indra Niehaus

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.

XPOT Deficiency causes a human disorder through impaired tRNA nuclear export

This study identifies XPOT deficiency as a human disorder causing immune defects, hearing loss, and developmental issues through impaired tRNA nuclear export.

Cerebral organoids expressing mutant actin genes reveal cellular mechanism underlying microcephalic cortical malformation

The paper uses cerebral organoids from patients with actin mutations to show that altered cleavage plane orientation in ventricular zone progenitors leads to microcephaly.

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.