Article
ALS-associated C21ORF2 variant disrupts DNA damage repair, mitochondrial metabolism, neuronal excitability and NEK1 levels in human motor neurons.
Acta neuropathologica communications - 4 Sept 2024
Zelina Pavol, de Ruiter Anna Aster, Kolsteeg Christy, van Ginneken Ilona, Vos Harmjan R, Supiot Laura F, Burgering Boudewijn M T, Meye Frank J, Veldink Jan H, van den Berg Leonard H, Pasterkamp R Jeroen
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is an adult-onset neurodegenerative disease leading to motor neuron loss. Currently mutations in > 40 genes have been linked to ALS, but the contribution of many genes and genetic mutations to the ALS pathogenic process remains poorly understood. Therefore, we first performed comparative interactome analyses of five recently discovered ALS-associated proteins (C21ORF2, KIF5A,...
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