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An Intricate Connection between Alternative Splicing and Phenotypic Plasticity in Development and Cancer
Open AccessArticle

Splicing Players Are Differently Expressed in Sporadic Amyotrophic Lateral Sclerosis Molecular Clusters and Brain Regions

1
Institute for Biomedical Research and Innovation, National Research Council, 95126 Catania, Italy
2
Department of (Neuro)Pathology, Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, Meibergdreef 9, 1105 Amsterdam, The Netherlands
*
Author to whom correspondence should be addressed.
Cells 2020, 9(1), 159; https://doi.org/10.3390/cells9010159 (registering DOI)
Received: 26 November 2019 / Revised: 23 December 2019 / Accepted: 4 January 2020 / Published: 8 January 2020
Splicing is a tightly orchestrated process by which the brain produces protein diversity over time and space. While this process specializes and diversifies neurons, its deregulation may be responsible for their selective degeneration. In amyotrophic lateral sclerosis (ALS), splicing defects have been investigated at the singular gene level without considering the higher-order level, involving the entire splicing machinery. In this study, we analyzed the complete spectrum (396) of genes encoding splicing factors in the motor cortex (41) and spinal cord (40) samples from control and sporadic ALS (SALS) patients. A substantial number of genes (184) displayed significant expression changes in tissue types or disease states, were implicated in distinct splicing complexes and showed different topological hierarchical roles based on protein–protein interactions. The deregulation of one of these splicing factors has a central topological role, i.e., the transcription factor YBX1, which might also have an impact on stress granule formation, a pathological marker associated with ALS. View Full-Text
Keywords: amyotrophic lateral sclerosis; spliceosome; splicing factors; SALS molecular subtypes; motor cortex; spinal cord; tissue-specific program; hub-bottlenecks; non hub-bottlenecks; YBX1 amyotrophic lateral sclerosis; spliceosome; splicing factors; SALS molecular subtypes; motor cortex; spinal cord; tissue-specific program; hub-bottlenecks; non hub-bottlenecks; YBX1
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MDPI and ACS Style

La Cognata, V.; Gentile, G.; Aronica, E.; Cavallaro, S. Splicing Players Are Differently Expressed in Sporadic Amyotrophic Lateral Sclerosis Molecular Clusters and Brain Regions. Cells 2020, 9, 159.

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