Johanna Ganssauge

This study identifies a functional interaction between SNRNP70 and TDP-43 that is essential for motor neuron development and regulates RNP granule assembly.

The paper uses single-cell RNA sequencing to show that TDP-43 mislocalisation disrupts chromatin remodelling in spinal neurons, identifying ACTL6B as a key inhibited factor in ALS.

This study develops a human model of TDP43 proteinopathy by inducing endogenous TDP43 mislocalization in iPSC-derived neurons, revealing its role in neurodegeneration and splicing defects.

The paper identifies CCDC146 as a modifier of ALS survival through primary cilia dysfunction and shows ASO targeting of CCDC146 rescues ALS phenotypes in human and mouse models.