Nicol Birsa

TL;DR: Interestingly, it is found that mutations within the C‐terminal domain of TDP‐43 lead to a gain of splicing function, which causes an adult‐onset neuromuscular phenotype accompanied by motor neuron loss and neurodegenerative changes in ALS patient‐derived cells.

TL;DR: expression of the translation initiation factor eIF1A uniquely rescued DPR-induced toxicity in vivo, indicating that restoring translation is a potential therapeutic strategy and directly implicate translational repression in C9orf72 repeat-induced neurodegeneration.

TL;DR: The most recent advances in understanding TDP-43 and FUS functions in the cytoplasm are reviewed, including mRNA stability and transport, translation, the stress response, mitochondrial function and autophagy regulation.

TL;DR: It is shown that this novel autoregulation mechanism is altered by FUS mutations, and it is found that mutant FUS directly alters intron retention levels in RNA-binding proteins, supporting the concept that multiple ALS genes interact in a regulatory network.

TL;DR: The role of ubiquitination by the E3 ligases: Parkin, MARCH5 and Mul1 and how they regulate mitochondrial homeostasis is discussed, ensuring the functionality of the mitochondrial network thus preserving neuronal health.