Carsten Drepper

TL;DR: The results indicate that mutations in FUS/TLS are not a major cause of sporadic ALS in the German population, and three patients with a synonymous mutation at codon 522 were identified.

TL;DR: This study provides a proteomics resource for motoneuron research and presents a paradigm of how mass-spectrometry-based proteomics can be used to evaluate disease model systems.

TL;DR: In this article, three whole-exome sequencing was performed to identify the disease-associated gene in a case series of unrelated patients diagnosed with juvenile ALS and severe growth retardation, and three de novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient) were identified in 3 unrelated patients and failure to thrive.

TL;DR: Evidence is provided that elevated expression of IGFBP5 in diabetic nerves reduces the availability of IGF1 for IGF1R on motor axons, thus leading to progressive neurodegeneration, and inhibition of IGF BP5 could offer novel treatment strategies for DNP.

TL;DR: Findings indicate that altered expression and localization of these ER proteins and autophagy markers are part of the dynamic response of muscle fibres to denervation, which could contribute to the selective build‐up of degenerative changes in the neuromuscular axis in MNDs.