Ontology highlight
ABSTRACT:
SUBMITTER: Tyzack GE
PROVIDER: S-EPMC8370440 | biostudies-literature | 2021 Aug
REPOSITORIES: biostudies-literature
Tyzack Giulia E GE Neeves Jacob J Crerar Hamish H Klein Pierre P Ziff Oliver O Taha Doaa M DM Luisier Raphaëlle R Luscombe Nicholas M NM Patani Rickie R
Brain : a journal of neurology 20210801 7
We recently described aberrantly increased cytoplasmic SFPQ intron-retaining transcripts (IRTs) and concurrent SFPQ protein mislocalization as new hallmarks of amyotrophic lateral sclerosis (ALS). However, the generalizability and potential roles of cytoplasmic IRTs in health and disease remain unclear. Here, using time-resolved deep sequencing of nuclear and cytoplasmic fractions of human induced pluripotent stem cells undergoing motor neurogenesis, we reveal that ALS-causing VCP gene mutations ...[more]