Ewout J N Groen

TL;DR: Recent advances in the understanding of the molecular make-up, formation, and mechanism-of-action of protein aggregates in ALS are discussed.

TL;DR: A genome-wide association study among 2,323 individuals with sporadic amyotrophic lateral sclerosis and 9,013 control subjects and evaluated all SNPs with P < 1.0 × 10−4 revealed genome- wide significance for one SNP, rs12608932, which maps to a haplotype block within the boundaries of UNC13A, which regulates the release of neurotransmitters at neuromuscular synapses.

TL;DR: This work investigated whether ANG variants could predispose to both ALS and PD, and found a few ALS patients carrying ANG variants also showed signs of Parkinson disease.

TL;DR: An overview of the rapidly evolving therapeutic landscape for SMA is provided, highlighting current achievements and future opportunities and how these developments are providing important lessons for the emerging second generation of combinatorial ('SMN-plus') therapies that are likely to be required to generate robust treatments that are effective across a patient's lifespan.

TL;DR: It is demonstrated that therapeutic targeting of ubiquitin pathways disrupted as a consequence of SMN depletion, by increasing levels of one key ubiquitination enzyme (ubiquitin-like modifier activating enzyme 1 [UBA1]), represents a viable approach for treating SMA.