Ontology highlight
ABSTRACT:
SUBMITTER: Marrone L
PROVIDER: S-EPMC6570784 | biostudies-literature | 2019 Jul
REPOSITORIES: biostudies-literature
Marrone Lara L Drexler Hannes C A HCA Wang Jie J Tripathi Priyanka P Distler Tania T Heisterkamp Patrick P Anderson Eric Nathaniel EN Kour Sukhleen S Moraiti Anastasia A Maharana Shovamayee S Bhatnagar Rajat R Belgard T Grant TG Tripathy Vadreenath V Kalmbach Norman N Hosseinzadeh Zohreh Z Crippa Valeria V Abo-Rady Masin M Wegner Florian F Poletti Angelo A Troost Dirk D Aronica Eleonora E Busskamp Volker V Weis Joachim J Pandey Udai Bhan UB Hyman Anthony A AA Alberti Simon S Goswami Anand A Sterneckert Jared J
Acta neuropathologica 20190401 1
Amyotrophic lateral sclerosis (ALS) is a lethal disease characterized by motor neuron degeneration and associated with aggregation of nuclear RNA-binding proteins (RBPs), including FUS. How FUS aggregation and neurodegeneration are prevented in healthy motor neurons remain critically unanswered questions. Here, we use a combination of ALS patient autopsy tissue and induced pluripotent stem cell-derived neurons to study the effects of FUS mutations on RBP homeostasis. We show that FUS' tendency t ...[more]