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Intron retention and nuclear loss of SFPQ are molecular hallmarks of ALS

16 May 2018

Abstract excerpt

Mutations causing amyotrophic lateral sclerosis (ALS) strongly implicate ubiquitously expressed regulators of RNA processing. To understand the molecular impact of ALS-causing mutations on neuronal development and disease, we analysed transcriptomes during in vitro differentiation of motor neurons (MNs) from human control and patient-specific VCP mutant induced-pluripotent stem cells (iPSCs). We identify...

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PMID: 29789581
DOI: 10.1038/s41467-018-04373-8

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