amyotrophic lateral sclerosis

[Nature Reviews Neuroscience] Over the past decade, the number of genes associated with ALS has risen dramatically and, with each new genetic variant, there is a drive to develop associated animal models. The authors summarize the full spectrum of ALS rodent models developed to date.

[Proceedings of the National Academy of Sciences of the United States of America] Researchers showed that proline-arginine poly-dipeptides generated from C9orf72 repeat expansions increased the intrinsic excitability in pyramidal neurons of the motor cortex but not in the principal neurons of the visual cortex, somatosensory cortex, or hippocampus.

[Nature] Loss of TDP-43 from the nucleus in human brain, neuronal cell lines and motor neurons derived from induced pluripotent stem cells resulted in the inclusion of a cryptic exon in UNC13A mRNA and reduced UNC13A protein expression.

[Cell Death & Differentiation] Scientists established a sequenced motor neurons (MN)-muscle co-differentiation system to engineer an in vitro functional 3D NMJ model for molecular studies and demonstrated that Cellular retinoic acid-binding protein 1 (CRABP1) in MNs contributes to NMJ formation and maintenance.

[Aquinnah Pharmaceuticals] Aquinnah Pharmaceuticals announced that it has signed an agreement with Roche to advance the development of brain penetrant oral small molecules to treat ALS and other neurodegenerative diseases.

[Journal of Neuropathology and Experimental Neurology] Scientists investigated fused in sarcoma (FUS) protein distribution in skeletal muscle fibers in amyotrophic lateral sclerosis-FUS.