Articles with "mutant fus" as a keyword



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Proteomics analysis of FUS mutant human motoneurons reveals altered regulation of cytoskeleton and other ALS-linked proteins via 3′UTR binding

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Published in 2020 at "Scientific Reports"

DOI: 10.1038/s41598-020-68794-6

Abstract: Increasing evidence suggests that in Amyotrophic Lateral Sclerosis (ALS) mutated RNA binding proteins acquire aberrant functions, leading to altered RNA metabolism with significant impact on encoded protein levels. Here, by taking advantage of a human… read more here.

Keywords: cytoskeleton; mutant fus; fus; proteomics analysis ... See more keywords
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Early Alterations in Structural and Functional Properties in the Neuromuscular Junctions of Mutant FUS Mice

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Published in 2023 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms24109022

Abstract: Amyotrophic lateral sclerosis (ALS) is manifested as skeletal muscle denervation, loss of motor neurons and finally severe respiratory failure. Mutations of RNA-binding protein FUS are one of the common genetic reasons of ALS accompanied by… read more here.

Keywords: neuromuscular junctions; mutant fus; neurotransmitter release; structural functional ... See more keywords