Claudia Colombrita

TL;DR: It is proved that TDP‐43 is not necessary for SG formation, and its gene silencing does not impair cell survival during stress, and an altered control of mRNA translation in stressful conditions may trigger motor neuron degeneration at early stages of the disease.

TL;DR: Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia and Charcot-Marie-Tooth type 2.

TL;DR: In this paper, an exome-wide rare variant burden analysis of 363 index cases with familial ALS (FALS) was performed and the results revealed an excess of patient variants within TUBA4A, the gene encoding the Tubulin, Alpha 4A protein.

TL;DR: The RNA-binding proteins TDP-43 and FUS form abnormal cytoplasmic aggregates in affected tissues of patients with amyotrophic lateral sclerosis and frontotemporal lobar dementia as discussed by the authors.

TL;DR: In a new screening strategy, gene-burden analyses trained with established ALS genes are performed and a significant association between loss-of-function (LOF) NEK1 variants and FALS risk is identified.