RNA-binding proteins

Neuro_iPSC Lab

Neuro_iPSC Lab

RNA-binding proteins (RBPs) play multiple roles in RNA metabolism and their mutation, delocalization and/or altered expression have been proposed to cause familial and sporadic amyotrophic latrla sclerosis (ALS). In our lab, human iPSC-derived motor neurons, skeletal muscle cells and neuromuscular organoids are used as in vitro model systems to study the role of the RBPs FUS, HuD/ELAVL4 and TDP-43 in ALS. To this aim, we have developed protocols for rapid and efficient conversion of human iPSCs into motor neurons and skeletal muscle cells.

Sam68 splicing regulation contributes to motor unit establishment in the postnatal skeletal muscle

RNA-binding proteins orchestrate the composite life of RNA molecules and impact most physiological processes, thus underlying complex phenotypes. The RNA-binding protein Sam68 regulates differentiation processes by modulating splicing, polyadenylation, and stability of select transcripts. Herein, we found that Sam68-/- mice display altered regulation of alternative splicing in the spinal cord of key target genes involved in synaptic functions.

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