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amyotrophic lateral sclerosis

University of Wisconsin Ophthalmology Professor Receives $75,000 Grant to Support International Collaborations on Eye Research

[Ophthalmology Times] Dr. Steven DeVries, a professor of Ophthalmology at the University of Wisconsin, has received an International Research Collaborators Award from Research to Prevent Blindnes that will allow him to learn from scientists at Ritsumeikan University in Japan about the process of growing 3D retinal organoids from stem cells.

Novel Chemical Inhibitor against SOD1 Misfolding and Aggregation Protects Neuron-Loss and Ameliorates Disease Symptoms in ALS Mouse Model

[Communications Biology] Using ELISA-based chemical screening with wild and mutant superoxide dismutase (SOD1) proteins, the authors screened a new small molecule, PRG-A01, which could block the misfolding/aggregation of SOD1 or TDP-43. The drug rescued the cell death induced by mutant SOD1 in human neuroblastoma cell line.

Axonal TDP-43 Condensates Drive Neuromuscular Junction Disruption through Inhibition of Local Synthesis of Nuclear Encoded Mitochondrial Proteins

[Nature Communications] The authors showed TDP-43 accumulation in intra-muscular nerves from amyotrophic lateral sclerosis (ALS) patients and in axons of human iPSC-derived motor neurons of ALS patients, as well as in motor neurons and neuromuscular junctions of a TDP-43 mislocalization mouse model.

A Selectable All-in-One CRISPR Prime Editing piggyBac Transposon Allows for Highly Efficient Gene Editing in Human Cell Lines

[Scientific Reports] Investigators demonstrated proof-of-concept for piggyBac prime-editing in a newly designed lentiviral traffic light reporter, which allowed for estimation of gene correction and defective editing resulting in indels, based on expression of two different fluorophores.

Gain-of-Function Cardiomyopathic Mutations in RBM20 Rewire Splicing Regulation and Re-Distribute Ribonucleoprotein Granules within Processing Bodies

[Nature Communications] To understand the mechanism of RBM20-associated dilated cardiomyopathy (DCM), researchers engineered isogenic iPSCs with DCM-associated missense mutations in RBM20 as well as RBM20 knockout iPSCs.

Ribonuclease Recruitment Using a Small Molecule Reduced c9ALS/FTD r(G4C2) Repeat Expansion In Vitro and In Vivo ALS Models

[Science Translational Medicine] Scientists demonstrated that targeted small-molecule degradation of an expanded G4C2 RNA repeat [r(G4C2)exp] was a strategy for mitigating amyotrophic lateral sclerosis and frontotemporal dementia (c9ALS/FTD)-associated pathologies and studying disease-associated pathways in preclinical models.

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