scholarly journals Resolution of pathogenic R-loops rescues motor neuron degeneration in spinal muscular atrophy

Brain ◽  
2019 ◽  
Vol 143 (1) ◽  
pp. 2-5
Author(s):  
Niko Hensel ◽  
Nora Tula Detering ◽  
Lisa Marie Walter ◽  
Peter Claus
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Neuron ◽  
Muscular Atrophy ◽  
Motor Neuron Degeneration ◽  
Neuron Degeneration

This scientific commentary refers to ‘ZPR1 prevents R-loop accumulation, upregulates SMN2 expression and rescues spinal muscular atrophy’, by Kannan et al. (doi: 10.1093/brain/awz373).

scholarly journals Converging Mechanisms of p53 Activation Drive Motor Neuron Degeneration in Spinal Muscular Atrophy

Cell Reports ◽  
2017 ◽  
Vol 21 (13) ◽  
pp. 3767-3780 ◽  
Author(s):  
Christian M. Simon ◽  
Ya Dai ◽  
Meaghan Van Alstyne ◽  
Charalampia Koutsioumpa ◽  
John G. Pagiazitis ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Neuron ◽  
Muscular Atrophy ◽  
Motor Neuron Degeneration ◽  
Neuron Degeneration ◽  
Drive Motor ◽  
P53 Activation

scholarly journals Multi-Study Proteomic and Bioinformatic Identification of Molecular Overlap between Amyotrophic Lateral Sclerosis (ALS) and Spinal Muscular Atrophy (SMA)

2018 ◽  
Vol 8 (12) ◽  
pp. 212 ◽  
Author(s):  
Darija Šoltić ◽  
Melissa Bowerman ◽  
Joanne Stock ◽  
Hannah Shorrock ◽  
Thomas Gillingwater ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Spinal Muscular Atrophy ◽  
Calcium Binding ◽  
Bioinformatics Analysis ◽  
Muscular Atrophy ◽  
Molecular Pathways ◽  
Motor Neuron Degeneration ◽  
Neuron Degeneration ◽  
Therapeutic Development ◽  
Lateral Sclerosis

Unravelling the complex molecular pathways responsible for motor neuron degeneration in amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) remains a persistent challenge. Interest is growing in the potential molecular similarities between these two diseases, with the hope of better understanding disease pathology for the guidance of therapeutic development. The aim of this study was to conduct a comparative analysis of published proteomic studies of ALS and SMA, seeking commonly dysregulated molecules to be prioritized as future therapeutic targets. Fifteen proteins were found to be differentially expressed in two or more proteomic studies of both ALS and SMA, and bioinformatics analysis identified over-representation of proteins known to associate in vesicles and molecular pathways, including metabolism of proteins and vesicle-mediated transport—both of which converge on endoplasmic reticulum (ER)-Golgi trafficking processes. Calreticulin, a calcium-binding chaperone found in the ER, was associated with both pathways and we independently confirm that its expression was decreased in spinal cords from SMA and increased in spinal cords from ALS mice. Together, these findings offer significant insights into potential common targets that may help to guide the development of new therapies for both diseases.

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